Biotinidase Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

BTD DEFICIENCY MCID: BTN003 MIFTS: 61	Biotinidase Deficiency (BTD DEFICIENCY) Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases
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Aliases & Classifications for Biotinidase Deficiency

MalaCards integrated aliases for Biotinidase Deficiency:

Name: Biotinidase Deficiency ⁵⁶ ¹² ⁷⁴ ²⁴ ⁵² ²⁵ ⁵⁸ ⁷³ ³⁶ ²⁹ ¹³ ⁵⁴ ⁶ ⁴³ ¹⁵ ⁷¹

Late-Onset Multiple Carboxylase Deficiency ¹² ²⁴ ⁵² ²⁵ ⁵⁸ ⁷³

Btd Deficiency ⁵⁶ ¹² ⁵² ²⁵ ⁵⁸ ⁷³

Multiple Carboxylase Deficiency, Juvenile-Onset ⁵⁶ ⁷³ ⁷¹

Multiple Carboxylase Deficiency, Late-Onset ⁵⁶ ²⁵ ⁷³

Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency ⁵² ²⁵

Juvenile-Onset Multiple Carboxylase Deficiency ¹² ⁵⁸

Biotin Deficiency ⁵² ⁷¹

Carboxylase Deficiency, Multiple, Late-Onset ²⁵

Deficiency of Biotinidase ¹²

Biotin Deficiency Disease ⁷¹

Deficiency, Biotinidase ³⁹

Mcd Juvenile Form ⁷³

Late-Onset Mcd ⁷³

Biot ²⁵

Characteristics:

Orphanet epidemiological data:

⁵⁸

biotinidase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
age of onset usually 1 week to 2 years

HPO:

³¹

biotinidase deficiency:
Inheritance autosomal recessive inheritance

GeneReviews:

²⁴

Penetrance Almost all children with profound biotinidase deficiency become symptomatic or are at risk of becoming symptomatic if not treated....

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Skin diseases Eye diseases Respiratory diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Other nutritional deficiencies

Deficiency of other B group vitamins

Deficiency of other specified B group vitamins

Orphanet: ⁵⁸

Rare neurological diseases

Rare skin diseases

Inborn errors of metabolism

External Ids:

Disease Ontology ¹² DOID:856

OMIM ⁵⁶ 253260

KEGG ³⁶ H01182

MeSH ⁴³ D028921

NCIt ⁴⁹ C84598

SNOMED-CT ⁶⁷ 8808004

ICD10 ³² D81.810

MESH via Orphanet ⁴⁴ D028921

ICD10 via Orphanet ³³ E53.8

UMLS via Orphanet ⁷² C0220754 C1854698

Orphanet ⁵⁸ ORPHA79241

MedGen ⁴¹ C0220754 C1854698

UMLS ⁷¹ C0220754 C0268680 C1854698 more

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Summaries for Biotinidase Deficiency

NIH Rare Diseases : ⁵² Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin . The disorder may become apparent in the first few months of life, or later in childhood. The more severe form of the disorder is called 'profound biotinidase deficiency' and may cause delayed development, seizures , weak muscle tone (hypotonia ), breathing problems, hearing and vision loss, problems with movement and balance (ataxia ), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. The milder form is called 'partial biotinidase deficiency'; without treatment, affected children may experience hypotonia, skin rashes, and hair loss. In some cases, these symptoms only appear during illness, infection, or other times of stress on the body. Biotinidase deficiency is caused by mutations in the BTD gene and is inherited in an autosomal recessive manner. Lifelong treatment with biotin can prevent symptoms and complications from occurring or improve them if they have already developed.

MalaCards based summary : Biotinidase Deficiency, also known as late-onset multiple carboxylase deficiency, is related to holocarboxylase synthetase deficiency and biotin deficiency, and has symptoms including seizures, vomiting and ataxia. An important gene associated with Biotinidase Deficiency is BTD (Biotinidase), and among its related pathways/superpathways are Biotin metabolism and Vitamin digestion and absorption. The drugs Clotrimazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and brain, and related phenotypes are muscular hypotonia and metabolic ketoacidosis

Disease Ontology : ¹² A multiple carboxylase deficiency that involves a deficiency in biotinidase.

Genetics Home Reference : ²⁵ Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood. Profound biotinidase deficiency, the more severe form of the condition, can cause seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. Affected children also have delayed development. Lifelong treatment can prevent these complications from occurring or improve them if they have already developed. Partial biotinidase deficiency is a milder form of this condition. Without treatment, affected children may experience hypotonia, skin rashes, and hair loss, but these problems may appear only during illness, infection, or other times of stress.

OMIM : ⁵⁶ Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder characterized primarily by cutaneous and neurologic abnormalities. Symptoms result from the patient's inability to reutilize biotin, a necessary nutrient. Sweetman (1981) recognized that multiple carboxylase deficiency could be classified into early (see 253270) and late forms. The early form showed higher urinary excretion of 3-hydroxyisovaleric acid and 3-hydroxypropionic acid than the late form and was associated with normal plasma biotin concentrations. Sweetman (1981) proposed a defect in holocarboxylase synthetase and intestinal biotin absorption, respectively. Some patients with biotinidase deficiency present in infancy (Baumgartner et al., 1985; Kalayci et al., 1994), and some individuals with this deficiency are asymptomatic (Wolf et al., 1997). (253260)

KEGG : ³⁶ Biotinidase deficiency is an autosomal recessive metabolic disorder in which the biotinidase is defective and the biotin is not recycled. Patients often exhibit feeding or breathing difficulties, skin rash, alopecia, hypotonia and seizures. Biotin treatment can ameliorate or prevent symptoms.

UniProtKB/Swiss-Prot : ⁷³ Biotinidase deficiency: A juvenile form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. Biotinidase deficiency is characterized by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and optic atrophy. If untreated, symptoms usually become progressively worse, and coma and death may occur.

Wikipedia : ⁷⁴ Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from... more...

GeneReviews: NBK1322

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Related Diseases for Biotinidase Deficiency

Diseases related to Biotinidase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 182, show less)

#	Related Disease	Score	Top Affiliating Genes
1	holocarboxylase synthetase deficiency	32.7	SLC5A6 PNPO PC HLCS BTD
2	biotin deficiency	32.4	SLC5A6 PCCB PC HLCS BTD
3	metabolic acidosis	31.0	PC HLCS BTD
4	multiple carboxylase deficiency	30.7	SUOX SLC5A6 PNPO PCCB PC MOCS1
5	abdominal obesity-metabolic syndrome 1	30.6	PAH LPL BTD
6	inherited metabolic disorder	30.6	PAH MMD LPL
7	phenylketonuria	30.1	POLG PAH BTD
8	organic acidemia	30.0	PCCB MMD HLCS BTD ACADS
9	3-methylglutaconic aciduria, type iii	29.9	POLG PC HIBCH BTD ACADS
10	3-methylcrotonyl-coa carboxylase deficiency	28.9	PCCB MMD HLCS HADH BTD ACADS
11	propionic acidemia	28.6	PCCB PC MMD HLCS HIBCH ACADS
12	maple syrup urine disease	28.5	SUOX PCCB PAH MMD HADH BTD
13	leigh syndrome	28.4	SUOX POLG PCCB HIBCH
14	alopecia	10.7
15	ataxia and polyneuropathy, adult-onset	10.6
16	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.6
17	exanthem	10.6
18	hypotonia	10.6
19	autosomal recessive disease	10.5
20	seizure disorder	10.5
21	visual epilepsy	10.5
22	sensorineural hearing loss	10.4
23	encephalopathy	10.4
24	monocarboxylate transporter 1 deficiency	10.4	PC HLCS
25	thiamine metabolism dysfunction syndrome 2	10.4	SLC5A6 BTD
26	branchiootic syndrome 1	10.4
27	pyridoxamine 5-prime-phosphate oxidase deficiency	10.4	PNPO BTD
28	dermatitis	10.3
29	molybdenum cofactor deficiency, complementation group c	10.3	SUOX MOCS1
30	methylmalonic aciduria, cblb type	10.3	PC HLCS
31	optic nerve disease	10.3
32	fatty liver disease	10.3
33	brain edema	10.3
34	sulfite oxidase deficiency, isolated	10.3	SUOX MOCS1
35	molybdenum cofactor deficiency, complementation group a	10.3	SUOX MOCS1
36	candidiasis	10.3
37	cerebral creatine deficiency syndrome	10.2	SUOX PNPO BTD
38	phosphoserine aminotransferase deficiency	10.2	SUOX PNPO BTD
39	multiple sclerosis	10.2
40	galactosemia i	10.2
41	quadriplegia	10.2
42	epilepsy	10.2
43	lactic acidosis	10.2
44	neuropathy	10.2
45	neuromyelitis optica	10.2
46	spastic paraparesis	10.2
47	hyperinsulinemic hypoglycemia, familial, 6	10.2	PC HADH
48	glycine encephalopathy	10.2	SUOX PNPO BTD
49	encephalopathy, ethylmalonic	10.2	SUOX ACADS
50	carbonic anhydrase va deficiency, hyperammonemia due to	10.2
51	paraplegia	10.2
52	conjunctivitis	10.2
53	seborrheic dermatitis	10.2
54	spasticity	10.2
55	hyperekplexia	10.1	SUOX SLC5A6 MOCS1
56	molybdenum cofactor deficiency	10.1	SUOX PNPO MOCS1
57	l-2-hydroxyglutaric aciduria	10.1	SUOX BTD
58	acyl-coa dehydrogenase deficiency	10.1	PC ACADS
59	acyl-coa dehydrogenase, short-chain, deficiency of	10.1	HADH ACADS
60	encephalomalacia	10.1	SUOX MOCS1 HECTD4
61	pancreas, annular	10.1
62	galactosemia iii	10.1
63	hydrocephalus, congenital, 1	10.1
64	ocular motor apraxia	10.1
65	yemenite deaf-blind hypopigmentation syndrome	10.1
66	west syndrome	10.1
67	congenital hypothyroidism	10.1
68	spastic diplegia	10.1
69	optic neuritis	10.1
70	hypothyroidism	10.1
71	neuritis	10.1
72	gastroenteritis	10.1
73	spinal cord disease	10.1
74	demyelinating disease	10.1
75	myelitis	10.1
76	severe combined immunodeficiency	10.1
77	hypoglycemia	10.1
78	transverse myelitis	10.1
79	cerebral atrophy	10.1
80	hypertonia	10.1
81	asphyxia neonatorum	10.1	HECTD4 HADH
82	acyl-coa dehydrogenase, very long-chain, deficiency of	10.1	HADH ACADS
83	homocystinuria	10.0	SUOX MMD BTD
84	carnitine deficiency, systemic primary	10.0	PC HADH ACADS
85	vitamin metabolic disorder	10.0	PNPO MMD
86	alkaptonuria	10.0	PAH MOCS1
87	carnitine palmitoyltransferase ii deficiency, infantile	10.0	HADH ACADS
88	methylmalonic acidemia	10.0	PCCB MMD ACADS
89	glutaric acidemia i	9.9	MMD HADH
90	argininemia	9.9	PAH HLCS
91	cryptorchidism, unilateral or bilateral	9.9
92	protein-energy malnutrition	9.9
93	exencephaly	9.9
94	sotos syndrome 1	9.9
95	cleft palate, isolated	9.9
96	coffin-siris syndrome 1	9.9
97	laryngomalacia	9.9
98	tracheoesophageal fistula with or without esophageal atresia	9.9
99	acrodermatitis enteropathica, zinc-deficiency type	9.9
100	autism	9.9
101	celiac disease 1	9.9
102	hyper-beta-alaninemia	9.9
103	hyperlipoproteinemia, type i	9.9
104	immune deficiency disease	9.9
105	adrenoleukodystrophy	9.9
106	juvenile myelomonocytic leukemia	9.9
107	epileptic encephalopathy, early infantile, 3	9.9
108	psoriasis 14, pustular	9.9
109	striatal degeneration, autosomal dominant 2	9.9
110	hemophagocytic lymphohistiocytosis	9.9
111	early infantile epileptic encephalopathy	9.9
112	esophageal atresia	9.9
113	microcephaly	9.9
114	respiratory failure	9.9
115	amenorrhea	9.9
116	vacterl association	9.9
117	neonatal jaundice	9.9
118	wernicke encephalopathy	9.9
119	blepharoconjunctivitis	9.9
120	acrodermatitis	9.9
121	bronchiolitis	9.9
122	early myoclonic encephalopathy	9.9
123	lysosomal storage disease	9.9
124	skin disease	9.9
125	myopathy	9.9
126	pustulosis of palm and sole	9.9
127	psoriasis	9.9
128	blepharitis	9.9
129	episodic ataxia	9.9
130	mitochondrial dna-associated leigh syndrome and narp	9.9
131	nuclear gene-encoded leigh syndrome	9.9
132	polg-related disorders	9.9
133	adrenomyeloneuropathy	9.9
134	auditory neuropathy spectrum disorder	9.9
135	enteropathica	9.9
136	pustular psoriasis	9.9
137	ohtahara syndrome	9.9
138	renal dysplasia	9.9
139	infantile epilepsy syndrome	9.9
140	metabolic myopathy	9.9
141	mitochondrial dna depletion syndrome 5	9.9	POLG ACADS
142	isovaleric acidemia	9.8	PCCB MMD BTD ACADS
143	autoimmune disease	9.8
144	hair whorl	9.8
145	macroglossia	9.8
146	papillomatosis, confluent and reticulated	9.8
147	triiodothyronine receptor auxiliary protein	9.8
148	volvulus of midgut	9.8
149	3-methylcrotonyl-coa carboxylase 1 deficiency	9.8
150	glycogen storage disease ia	9.8
151	pyruvate carboxylase deficiency	9.8
152	insulin-like growth factor i	9.8
153	wernicke-korsakoff syndrome	9.8
154	alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity	9.8
155	hypogonadotropic hypogonadism	9.8
156	short bowel syndrome	9.8
157	neutropenia	9.8
158	marasmus	9.8
159	kwashiorkor	9.8
160	beriberi	9.8
161	keratosis	9.8
162	hypogonadism	9.8
163	telogen effluvium	9.8
164	glycogen storage disease	9.8
165	histiocytosis	9.8
166	infertility	9.8
167	eosinophilic pneumonia	9.8
168	crohn's disease	9.8
169	chronic eosinophilic pneumonia	9.8
170	allergic encephalomyelitis	9.8
171	alopecia totalis	9.8
172	granulocytopenia	9.8
173	leiner disease	9.8
174	glycogen storage disease due to glucose-6-phosphatase deficiency	9.8
175	amino acid metabolic disorder	9.8	PCCB PAH MMD BTD
176	cerebral creatine deficiency syndrome 2	9.8	SUOX POLG PNPO BTD
177	urea cycle disorder	9.8	PC PAH MMD HLCS
178	alpha-methylacetoacetic aciduria	9.7	MMD HIBCH HADH
179	pyruvate dehydrogenase e1-alpha deficiency	9.6	SUOX POLG PC HIBCH
180	mitochondrial metabolism disease	9.4	SUOX POLG HIBCH ACADS
181	acyl-coa dehydrogenase, medium-chain, deficiency of	9.4	PAH MMD HADH BTD ACADS
182	dystonia	9.2	SUOX POLG PAH HIBCH BTD

Graphical network of the top 20 diseases related to Biotinidase Deficiency:

Sources

Symptoms & Phenotypes for Biotinidase Deficiency

Human phenotypes related to Biotinidase Deficiency:

⁵⁸ ³¹ (showing 44, show less)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	muscular hypotonia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001252
2	metabolic ketoacidosis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0005979
3	generalized myoclonic seizure ³¹	hallmark (90%)		HP:0002123
4	hearing impairment ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000365
5	global developmental delay ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001263
6	optic atrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000648
7	ataxia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001251
8	alopecia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001596
9	keratoconjunctivitis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001096
10	desquamation of skin soon after birth ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007549
11	perioral eczema ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011127
12	hypertonia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001276
13	muscle weakness ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001324
14	growth delay ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001510
15	myopia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000545
16	apnea ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002104
17	abnormal cerebellum morphology ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001317
18	lethargy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001254
19	iris hypopigmentation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0007730
20	visual field defect ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001123
21	coma ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001259
22	laryngeal stridor ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0006511
23	recurrent fungal infections ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002841
24	hyperventilation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002883
25	splenomegaly ³¹			HP:0001744
26	hepatomegaly ³¹			HP:0002240
27	sensorineural hearing impairment ³¹			HP:0000407
28	feeding difficulties in infancy ³¹			HP:0008872
29	vomiting ³¹			HP:0002013
30	generalized myoclonic seizures ⁵⁸		Very frequent (99-80%)
31	skin rash ³¹			HP:0000988
32	seborrheic dermatitis ³¹			HP:0001051
33	conjunctivitis ³¹			HP:0000509
34	hyperammonemia ³¹			HP:0001987
35	tachypnea ³¹			HP:0002789
36	diarrhea ³¹			HP:0002014
37	visual loss ³¹			HP:0000572
38	generalized hypotonia ³¹			HP:0001290
39	recurrent skin infections ³¹			HP:0001581
40	organic aciduria ³¹			HP:0001992
41	diffuse cerebellar atrophy ³¹			HP:0100275
42	diffuse cerebral atrophy ³¹			HP:0002506
43	seizure ³¹			HP:0001250
44	decreased biotinidase level ³¹			HP:0410145

Symptoms via clinical synopsis from OMIM:

⁵⁶

Abdomen Spleen:
splenomegaly

Neurologic Central Nervous System:
seizures
ataxia
lethargy
diffuse cerebellar atrophy
diffuse cerebral atrophy
more

Abdomen Gastrointestinal:
vomiting
feeding difficulties
diarrhea

Skin Nails Hair Hair:
alopecia

Metabolic Features:
organic aciduria
metabolic ketoacidosis

Laboratory Abnormalities:
organic aciduria (elevated beta-hydroxyisovalerate, lactate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate)
mild hyperammonemia
biotinidase deficiency

Abdomen Liver:
hepatomegaly

Head And Neck Eyes:
optic atrophy
conjunctivitis
vision loss

Skin Nails Hair Skin:
skin rash
seborrheic dermatitis
skin infections

Respiratory:
apnea
tachypnea
breathing problems

Head And Neck Ears:
hearing loss, sensorineural

Clinical features from OMIM:

253260

UMLS symptoms related to Biotinidase Deficiency:

seizures, vomiting, ataxia, apnea, lethargy, diarrhea, exanthema, unspecified visual loss

GenomeRNAi Phenotypes related to Biotinidase Deficiency according to GeneCards Suite gene sharing:

²⁶ (showing 5, show less)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00240-S-1	9.6	HIBCH
2	Decreased viability	GR00249-S	9.6	EIF2B4 HADH HECTD4 HLCS MOCS1 PCCB
3	Decreased viability	GR00381-A-1	9.6	MOCS1 PCCB
4	Decreased viability	GR00386-A-1	9.6	ACADS LPL MOCS1 POLG SLC5A6
5	Decreased viability	GR00402-S-2	9.6	ACADS PC

Sources

Drugs & Therapeutics for Biotinidase Deficiency

Drugs for Biotinidase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 20, show less)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Clotrimazole

Approved, Vet_approved

Phase 2

23593-75-1

2812

Synonyms:

(Chlorotrityl)imidazole

1-((2-Chlorophenyl)diphenylmethyl)-1H-imidazole

1-(a-(2-Chlorophenyl)benzhydryl)imidazole

1-(alpha-(2-Chlorophenyl)benzhydryl)imidazole

1-(O-chloro-a,a-Diphenylbenzyl)imidazole

1-(O-chloro-alpha,alpha-Diphenylbenzyl)imidazole

1-(o-Chlorotrityl)imidazole

1-(O-Chlorotrityl)imidazole

1-(o-Chloro-α,α-diphenylbenzyl)imidazole

1-(O-chloro-α,α-diphenylbenzyl)imidazole

1-(α-(2-chlorophenyl)benzhydryl)imidazole

1-(α-(2-Chlorophenyl)benzhydryl)imidazole

117829-71-7

23593-75-1

33894_FLUKA

33894_RIEDEL

3ACDFDF8-38E3-4368-85D0-BDF8AE1E6591

AB00051951

AC1L1EIW

AC-279

B 5097

BAY 5097

Bay b 5097

BAY b 5097

Bay b 9057

BAY b5097

BAY-5097

Bay-B 5097

BAYb 5097

Bayer brand 1 OF clotrimazole

Bayer Brand 1 of Clotrimazole

Bayer brand 2 OF clotrimazole

Bayer Brand 2 of Clotrimazole

BIDD:GT0450

BIDD:PXR0036

Bio-0442

BPBio1_000126

BRN 0622318

BSPBio_000114

BSPBio_002057

C 6019

C06922

C22H17ClN2

C6019_SIGMA

Canesten

Canesten 1-day cream combi-pak

Canesten 1-Day Cream Combi-Pak

Canesten 1-day therapy

Canesten 1-Day Therapy

Canesten 3-day therapy

Canesten 3-Day Therapy

Canesten 6-day therapy

Canesten 6-Day Therapy

Canesten combi-pak 1-day therapy

Canesten Combi-Pak 1-Day Therapy

Canesten combi-pak 3-day therapy

Canesten Combi-Pak 3-Day Therapy

Canesten cream

Canesten Cream

Canesten solution

Canesten Solution

Canestene

Canestine

Canifug

CAS-23593-75-1

CCRIS 6245

CHEBI:3764

CHEMBL104

Chlotrimazole

CID2812

Cimitidine

Clomatin

Clotrimaderm

Clotrimaderm cream

Clotrimazol

Clotrimazol [INN-Spanish]

clotrimazole

Clotrimazole

Clotrimazole (JP15/USP/INN)

Clotrimazole [USAN:INN:BAN:JAN]

Clotrimazole schering brand

Clotrimazole Schering Brand

Clotrimazolum

Clotrimazolum [INN-Latin]

clotrimeizol

CPD000058306

CPD-8926

Cutistad

D00282

D003022

DB00257

Desamix F

DivK1c_000665

DRG-0072

EINECS 245-764-8

Empecid

Esparol

EU-0100315

FB 5097

FB b 5097

Fem care

Fem Care

FemCare

Gino-Lotremine

Gyne lotrimin

Gyne-lotrimin

Gyne-Lotrimin

Gyne-lotrimin 3

Gyne-Lotrimin 3

Gyne-lotrimin 3 combination pack

Gyne-Lotrimin 3 Combination Pack

Gyne-lotrimin combination pack

Gyne-Lotrimin Combination Pack

Gyne-lotrimin3

Gyne-lotrimin3 combination pack

Gynix

HMS1568F16

HMS1920O21

HMS2051E11

HMS2091G10

HMS502B07

HSDB 3266

I01-3474

IDI1_000665

Kanesten

KBio1_000665

KBio2_001823

KBio2_004391

KBio2_006959

KBio3_001277

KBioGR_000850

KBioSS_001823

Klotrimazole

Lopac0_000315

Lopac-C-6019

Lotrimax

Lotrimin

Lotrimin (TN)

Lotrimin af

Lotrimin Af

Lotrimin af cream

Lotrimin AF Cream

Lotrimin af jock-itch cream

Lotrimin AF Jock-Itch Cream

Lotrimin af lotion

Lotrimin AF Lotion

Lotrimin af solution

Lotrimin AF Solution

Lotrimin cream

Lotrimin Cream

Lotrimin lotion

Lotrimin Lotion

Lotrimin solution

Lotrimin Solution

Lotrisone

LS-78271

MLS000028502

MLS000758243

MLS001423972

MolPort-002-557-756

mono-Baycuten

Monobaycuten

Mono-baycuten

Mycelax

Mycelex

Mycelex (TN)

Mycelex 7

Mycelex cream

Mycelex Cream

Mycelex g

Mycelex G

Mycelex otc

Mycelex OTC

Mycelex solution

Mycelex Solution

Mycelex troches

Mycelex Troches

Mycelex twin pack

Mycelex Twin Pack

Mycelex: mycosporinrimazole

Mycelex: MycosporinRimazole

Mycelex-7

Mycelex-7 combination pack

Mycelex-7 Combination Pack

Mycelex-g

Mycelex-G

myclo Cream

Myclo Cream

myclo Solution

Myclo Solution

myclo Spray solution

Myclo Spray Solution

myclo-Gyne

Myclo-Gyne

Mycofug

Mycosporin

Mykosporin

Nalbix

NCGC00015251-01

NCGC00015251-02

NCGC00015251-03

NCGC00015251-09

NCGC00093761-01

NCGC00093761-02

NCGC00093761-03

NCGC00093761-04

NCGC00093761-05

NCGC00093761-06

nchembio.65-comp9

nchembio790-comp30

NCIMech_000609

neo-Zol cream

Neo-Zol Cream

NINDS_000665

NSC 257473

NSC257473

Otomax

Pan-Fungex

Pedisafe

Prestwick_120

Prestwick0_000267

Prestwick1_000267

Prestwick2_000267

Prestwick3_000267

QTL1_000024

Rimazole

S1606_Selleck

SAM001247056

Schering brand OF clotrimazole

Schering Brand of Clotrimazole

SMR000058306

SPBio_000176

SPBio_002333

Spectrum_001343

SPECTRUM1500200

Spectrum2_000128

Spectrum3_000359

Spectrum4_000295

Spectrum5_000781

Stiemazol

STK700023

Tibatin

Trimysten

Trivagizole 3

UNII-G07GZ97H65

Veltrim

ZINC03807804

Miconazole

Approved, Investigational, Vet_approved

Phase 2

22916-47-8

4189

Synonyms:

(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole

1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole

1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole

1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole

1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole

1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole

1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole

1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole

1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole

1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole

22832-87-7 (NITRATE)

22916-47-8

75319-47-0

AB00053500

AC1L1HM1

Aflorix(nitrate)

AKOS001574474

Albistat(nitrate)

Andergin(nitrate)

BPBio1_000279

BRD-A82396632-001-03-0

BRD-A82396632-008-02-7

Brentan

BRN 0965511

BSPBio_000253

BSPBio_002033

CCRIS 7924

CHEBI:6923

CHEMBL91

CID4189

Conofite(nitrate)

CPD-4501

D00416

Dactarin

Daktarin IV

DB01110

DivK1c_000156

EINECS 245-324-5

Epi-Monistat(nitrate)

Esteve brand OF miconazole

Femizol-M

Florid(nitrate)

Gyno-Daktar(nitrate)

HMS1568M15

HMS2090B21

I14-14342

IDI1_000156

imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)

Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)

Janssen cilag brand OF miconazole

Janssen-cilag brand OF miconazole

Johnston and johnston brand OF miconazole nitrate

KBio1_000156

KBio2_001445

KBio2_004013

KBio2_006581

KBio3_001533

KBioGR_000581

KBioSS_001445

Lotrimin AF(nitrate)

LS-78378

MCZ

Micantin (nitrate)

Miconasil nitrate

Miconasil Nitrate

Miconazol

Miconazol [INN-Spanish]

miconazole

Miconazole

Miconazole (JP15/USP/INN)

Miconazole [USAN:BAN:INN:JAN]

Miconazole 3

Miconazole 3 Combination Pack

Miconazole 7 Combination Pack

Miconazole esteve brand

Miconazole janssen-cilag brand

Miconazole nitrate

Miconazole nitrate salt

Miconazole-7

Miconazolo

Miconazolo [DCIT]

Miconazolum

Miconazolum [INN-Latin]

Micozole

Minostate

MJR 1762

MLS002222203

MolPort-002-557-553

Monazole 7

Monista (nitrate)

Monistat

Monistat (TN)

Monistat 1 Combination Pack

Monistat 3 Dual-Pak

Monistat 3 Vaginal Ovules

Monistat 5 Tampon

Monistat 7 Dual-Pak

Monistat 7 Vaginal Suppositories

Monistat Dual- PAK

Monistat IV

Monistat iv (TN)

Monistat-Derm

NCI60_001353

NCI60_001380

NINDS_000156

Nitrate, miconasil

Nitrate, miconazole

Novo-Miconazole Vaginal Ovules

NSC 170986

NSC169434

NSC170986

Oprea1_091955

Prestwick_335

Prestwick0_000067

Prestwick1_000067

Prestwick2_000067

Prestwick3_000067

R 18134

R-14,889

SMR001307249

SPBio_000976

SPBio_002174

Spectrum_000965

Spectrum2_001048

Spectrum3_000507

Spectrum4_000061

Spectrum5_001297

STK834405

STOCK1S-93556

UNII-7NNO0D7S5M

Vusion

Zimycan

Immunologic Factors

Phase 2

Anti-Infective Agents

Phase 2

Cyclosporins

Phase 2

Immunosuppressive Agents

Phase 2

Antifungal Agents

Phase 2

Dermatologic Agents

Phase 2

Calcineurin Inhibitors

Phase 2

Antirheumatic Agents

Phase 2

Folic acid

Approved, Nutraceutical, Vet_approved

59-30-3

6037

Synonyms:

(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid

01769_FLUKA

2d0k

33609-88-0

36653-55-1 (mono-potassium salt)

59-30-3

6484-89-5 (mono-hydrochloride salt)

AC-11682

AC1L1LNX

Acfol (Spain)

Acide folique

Acide folique [INN-French]

Acido folico

ácido fólico

Acido folico [INN-Spanish]

Acidum folicum

Acidum folicum [INN-Latin]

Acifolic

AI3-26387

AKOS000503224

Antianemia factor

Apo-Folic

ARONIS014410

b9, Vitamin

BIDD:ER0563

BIDD:GT0641

BIF0608

bmse000299

BPBio1_000654

BSPBio_000594

BSPBio_002338

C00504

C20H20N6O6

CAS-59-30-3

CCRIS 666

CHEBI:27470

CHEMBL1622

CID6037

CPD000471860

Cytofol

D00070

DB00158

DivK1c_000494

Dosfolat b activ

Dosfolat B activ

EINECS 200-419-0

F0043

F7876_SIAL

F7876_SIGMA

F8758_SIGMA

F8798_SIAL

F8890_SIGMA

Facid

Factor U

FOL

Folacid

Folacin

Folaemin

Folaemin [Netherlands]

Folan

Folasic (Australia)

Folate

Folbal

Folcidin

Folcidin (VAN)

Folcysteine

Foldine

Foldine [France]

Folettes

Foliamin

Folic

folic acid

Folic acid

Folic acid (JP15/USP/INN)

Folic acid (TN)

Folic acid [BAN:INN:JAN]

Folic acid [INN:BAN:JAN]

Folic acid dihydrate

Folic acid, (D)-isomer

Folic acid, (DL)-isomer

Folic acid, calcium salt (1:1)

Folic acid, monopotassium salt

Folic acid, monosodium salt

Folic acid, potassium salt

Folic acid, sodium salt

Folicet

Folicet (TN)

Folico

Folico (Italy)

Folina

Folina (Italy)

Folipac

Folsaeure

Folsan

Folsaure

Folsäure

Folsav

Folvite

Folvron

Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L

HMS1921D20

HMS2092N17

HMS501I16

HSDB 2002

IDI1_000494

Incafolic

InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s

KBio1_000494

KBio2_001861

KBio2_004429

KBio2_006997

KBio3_001558

KBioGR_002222

KBioSS_001861

Kyselina listova

Kyselina listova [Czech]

Liver lactobacillus casei factor

Liver Lactobacillus casei factor

LS-2157

Millafol

Mission prenatal

Mittafol

MLS001304016

MLS001335861

MolPort-004-285-551

N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid

N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid

N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid

N-(4-{[(2-amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid

N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid

N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamate

N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid

N-[4-[[(2-amino-3,4-dihydro-4-oxo-6-Pteridinyl)methyl]amino]benzoyl]-L-glutamic acid

NCGC00016265-01

NCGC00142391-01

nchembio.108-comp10

Nifolin

Nifolin [Denmark]

NINDS_000494

Novofolacid

Novofolacid [Canada]

N-Pteroyl-L-glutamate

N-pteroyl-L-glutamic acid

N-Pteroyl-L-glutamic acid

NSC 3073

PGA

PGA (VAN)

Prestwick_230

Prestwick3_000627

PteGlu

Pteroylglutamate

Pteroylglutamic acid

Pteroyl-L-glutamate

Pteroyl-L-glutamic acid

Pteroyl-L-monoglutamate

Pteroyl-L-monoglutamic acid

Pteroylmonoglutamate

Pteroylmonoglutamic acid

SAM002264616

SDCCGMLS-0066738.P001

Serum Folate Level

SMP2_000137

SMR000471860

SPBio_001357

Spectrum_001381

SPECTRUM1502020

Spectrum2_001459

Spectrum3_000749

Spectrum4_001751

Spectrum5_000602

UNII-935E97BOY8

Usaf cb-13

Vitamin B11

Vitamin b9

Vitamin B9

Vitamin Bc

Vitamin BC

Vitamin be

Vitamin Be

Vitamin m

Vitamin M

Biotin

Approved, Investigational, Nutraceutical

58-85-5

171548

Synonyms:

(+)-Biotin

-(+)-Biotin

(+)-cis-hexahydro-2-oxo-1H-thieno[3,4]Imidazole-4-valerate

(+)-cis-hexahydro-2-oxo-1H-thieno[3,4]Imidazole-4-valeric acid

(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid

(3AS,4S,6ar)-hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valerate

(3aS,4S,6aR)-Hexahydro-2-oxo-1H-thieno[3,4-d]imidazole-4-valeric acid

(3AS,4S,6ar)-hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valeric acid

1SWK

1SWN

1SWR

5-(2-oxohexahydro-1H-thieno[3,4-D]Imidazol-4-yl)pentanoate

5-(2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl)pentanoic acid

5-(2-oxohexahydro-1H-thieno[3,4-D]Imidazol-4-yl)pentanoic acid

Biocur brand OF biotin

Biodermatin

Bioepiderm

Biokur

Bios H

Bios II

Biotin

Biotin biocur brand

Biotin dermapharm brand

Biotin gelfert

Biotin hermes

Biotin hermes brand

Biotin medopharm brand

Biotin ratiopharm

Biotin ratiopharm brand

Biotin roche brand

Biotin simons brand

Biotin strathmann brand

Biotin ziethen brand

Biotina

Biotine

Biotine roche

Biotinratiopharm

Biotin-ratiopharm

Biotinum

cis-(+)-tetrahydro-2-oxothieno[3,4]Imidazoline-4-valerate

cis-(+)-tetrahydro-2-oxothieno[3,4]Imidazoline-4-valeric acid

cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valeric acid

cis-hexahydro-2-oxo-1H-thieno(3,4)Imidazole-4-valerate

cis-hexahydro-2-oxo-1H-thieno(3,4)Imidazole-4-valeric acid

cis-Hexahydro-2-oxo-1H-thieno(3,4)imidazole-4-valeric acid

cis-tetrahydro-2-oxothieno(3,4-D)Imidazoline-4-valerate

cis-tetrahydro-2-oxothieno(3,4-D)Imidazoline-4-valeric acid

cis-Tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid

Coenzyme R

D-(+)-biotin

D(+)-Biotin

D-(+)-Biotin

D-Biotin

D-Biotin factor S

Deacura

delta-(+)-Biotin

delta-Biotin

delta-Biotin factor S

Dermapharm brand OF biotin

E+b pharma brand OF biotin

Factor S

Factor S (vitamin)

Gabunat

Gelfert, biotin

H, Vitamin

Hermes brand OF biotin

Hermes, biotin

hexahydro-2-oxo-[3AS-(3aa,4b,6aa)]-1H-thieno[3,4-D]imidazole-4-pentanoate

hexahydro-2-oxo-[3AS-(3aa,4b,6aa)]-1H-thieno[3,4-D]imidazole-4-pentanoic acid

hexahydro-2-oxo-[3As-(3alpha,4beta,6alpha)]-1H-thieno[3,4-D]imidazole-4-pentanoate

hexahydro-2-oxo-[3As-(3alpha,4beta,6alpha)]-1H-thieno[3,4-D]imidazole-4-pentanoic acid

hexahydro-2-oxo-1H-thieno(3,4-D)Imidazole-4-pentanoate

hexahydro-2-oxo-1H-thieno(3,4-D)Imidazole-4-pentanoic acid

Lutavit H2

Medea brand OF biotin sodium salt

Medebiotin

Medobiotin

Medopharm brand OF biotin

Meribin

Ratiopharm brand OF biotin

Roche brand OF biotin

Roche, biotine

Rombellin

Rovimix H 2

Simons brand OF biotin

Strathmann brand OF biotin

Vitamin b7

Vitamin B7

Vitamin H

Vitamin-H

Ziethen brand OF biotin

Trace Elements

Vitamins

Vitamin B Complex

Nutrients

Folate

Vitamin B7

Micronutrients

Vitamin B9

Interventional clinical trials:

(showing 6, show less)

#	Name	Status	NCT ID	Phase	Drugs
1	An Open-label, Single-arm, Phase 2 Study of ORL-1B in Patients With Biotinidase Deficiency	Completed	NCT03269045	Phase 1, Phase 2	ORL-1B
2	A Single Center, Investigator-blinded Study of the Efficacy of Topical Cyclosporine 0.05% Ophthalmic Suspension (RESTASIS®) Under Occlusion Versus Vehicle in the Treatment of Brittle Nail Syndrome	Completed	NCT01064830	Phase 2	topical cyclosporine ophthalmic suspension 0.05%;vehicle
3	BIOtinidase Test In Optic-Neuropathy	Completed	NCT03268681
4	Biotin Status in Pregnancy	Completed	NCT00894920
5	Biotin Deficiency and Restless Legs Syndrome: Evidence for a Causal Relationship From Randomized, Double-Blind, Placebo-Controlled Trial	Completed	NCT02011191
6	Studies of Disorders With Increased Susceptibility to Fungal Infections	Recruiting	NCT01222741

Search NIH Clinical Center for Biotinidase Deficiency

Cochrane evidence based reviews: biotinidase deficiency

Sources

Genetic Tests for Biotinidase Deficiency

Genetic tests related to Biotinidase Deficiency:

#	Genetic test	Affiliating Genes
1	Biotinidase Deficiency ²⁹	BTD

Sources

Anatomical Context for Biotinidase Deficiency

MalaCards organs/tissues related to Biotinidase Deficiency:

⁴⁰

Skin, Testes, Brain, Cerebellum, Spinal Cord, Liver, Eye

Sources

Publications for Biotinidase Deficiency

Articles related to Biotinidase Deficiency:

(showing 435, show less)

#	Title	Authors	PMID	Year
1	Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. ⁶ ⁵⁶ ⁶¹ ⁵⁴ ²⁴	Swango KL...Wolf B	9654207	1998
2	Profound biotinidase deficiency in two asymptomatic adults. ⁶¹ ⁵⁴ ⁶ ⁵⁶ ²⁴	Wolf B...Hymes J	9375914	1997
3	Novel mutations cause biotinidase deficiency in Turkish children. ⁵⁴ ⁶ ⁵⁶ ⁶¹	Pomponio RJ...Wolf B	10801053	2000
4	Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children. ⁶ ⁵⁶ ⁶¹ ⁵⁴	Norrgard KJ...Wolf B	10400129	1999
5	Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency. ⁶¹ ⁵⁴ ⁵⁶ ⁶	Pomponio RJ...Wolf B	7550325	1995
6	Hearing loss in biotinidase deficiency: genotype-phenotype correlation. ⁶¹ ⁵⁴ ⁵⁶ ²⁴	Sivri HS...Wolf B	17382128	2007
7	Statistical approaches for the detection of heterozygotes for biotinidase deficiency. ⁶¹ ⁵⁴ ⁵⁶ ²⁴	Weissbecker KA...Wolf B	1877614	1991
8	Human serum biotinidase. cDNA cloning, sequence, and characterization. ²⁴ ⁶ ⁶¹	Cole H...Wolf B	7509806	1994
9	Biotinidase deficiency: a survey of 10 cases. ⁶¹ ²⁴ ⁵⁶	Wastell HJ...Shein A	3196050	1988
10	Biotinidase deficiency: initial clinical features and rapid diagnosis. ²⁴ ⁶¹ ⁵⁶	Wolf B...Leshner RT	4073853	1985
11	Biotinidase deficiency: a novel vitamin recycling defect. ⁶¹ ⁵⁶ ²⁴	Wolf B...Heard GS	3930841	1985
12	Hearing loss in biotinidase deficiency. ²⁴ ⁶¹ ⁵⁶		6139700	1983
13	Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation. ⁶¹ ⁵⁴ ⁵⁶	Muhl A...Stockler-Ipsiroglu S	11313766	2001
14	Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency. ⁶ ⁵⁴ ⁶¹	Pomponio RJ...Wolf B	9705240	1998
15	Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis. ⁵⁴ ⁶¹ ⁵⁶	Pomponio RJ...Wolf B	9396567	1997
16	Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene. ⁶ ⁶¹ ⁵⁴	Pomponio RJ...Wolf B	9158148	1997
17	Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children. ⁶ ⁵⁴ ⁶¹	Pomponio RJ...Wolf B	9099842	1997
18	Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure. ⁶ ⁶¹ ⁵⁴	Pomponio RJ...Wolf B	8894703	1996
19	Infantile spasms as the initial symptom of biotinidase deficiency. ⁶¹ ⁵⁶ ⁵⁴	Kalayci O...Ozalp I	8283357	1994
20	Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency. ⁵⁴ ⁵⁶ ⁶¹	Hart PS...Wolf B	1729884	1992
21	Comparison of patients with complete and partial biotinidase deficiency: biochemical studies. ⁵⁶ ⁵⁴ ⁶¹	Suormala TM...Schweitzer S	2109151	1990
22	Clinical utility gene card for: biotinidase deficiency. ⁶¹ ⁶	Kury S...Wolf B	22378278	2012
23	Clinical issues and frequent questions about biotinidase deficiency. ⁵⁴ ⁶¹ ²⁴	Wolf B	20129807	2010
24	Profound biotinidase deficiency in a child with predominantly spinal cord disease. ⁶¹ ⁵⁴ ²⁴	Chedrawi AK...Wolf B	18645204	2008
25	Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases. ⁶¹ ²⁴ ⁵⁴	Baykal T...Wolf B	16435182	2005
26	Biotinidase deficiency: a treatable leukoencephalopathy. ²⁴ ⁶¹ ⁵⁴	Grunewald S...Morris AA	15328559	2004
27	Outcome in patients with profound biotinidase deficiency: relevance of newborn screening. ⁵⁴ ⁶¹ ²⁴	Weber P...Baumgartner ER	15230462	2004
28	Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations. ²⁴ ⁵⁴ ⁶¹	Neto EC...Wolf B	15060693	2004
29	Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies. ²⁴ ⁶¹ ⁵⁴	Moslinger D...Stockler-Ipsiroglu S	14628140	2003
30	Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency. ⁵⁴ ²⁴ ⁶¹	Wolf B...Gleason T	11865279	2002
31	Mutations in BTD causing biotinidase deficiency. ⁵⁶ ⁶¹	Hymes J...Wolf B	11668630	2001
32	Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. ⁵⁴ ⁶¹ ²⁴	Moslinger D...Baumgartner ER	11388594	2001
33	Biotinidase Deficiency ⁶¹ ⁶	Wolf B	20301497	2000
34	Delayed-onset profound biotinidase deficiency. ²⁴ ⁶¹ ⁵⁴	Wolf B...Hymes J	9506660	1998
35	Biotinidase deficiency in Scotland. ⁵⁶ ⁶¹	Minns RA...Kirk J	8050627	1994
36	Characterization of seizures associated with biotinidase deficiency. ⁵⁴ ⁶¹ ²⁴	Salbert BA...Wolf B	8327137	1993
37	Ophthalmologic findings in biotinidase deficiency. ²⁴ ⁵⁴ ⁶¹	Salbert BA...Wolf B	8278163	1993
38	Cerebral metabolic change after treatment in biotinidase deficiency. ²⁴ ⁵⁴ ⁶¹	Lott IT...Buchsbaum MJ	8412000	1993
39	A biotinidase Km variant causing late onset bilateral optic neuropathy. ⁶¹ ²⁴ ⁵⁴	Ramaekers VT...Baumgartner ER	1739323	1992
40	Worldwide survey of neonatal screening for biotinidase deficiency. ⁵⁴ ²⁴ ⁶¹	Wolf B	1779651	1991
41	Neonatal screening for biotinidase deficiency. A pilot study in Scotland. ⁶¹ ⁵⁶	Kennedy R...King MD	2515386	1989
42	Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn. ⁵⁶ ⁶¹	Dunkel G...Laberge C	2502673	1989
43	Basal ganglia calcifications in a case of biotinidase deficiency. ⁵⁶ ⁶¹	Schulz PE...Fishman MA	3399084	1988
44	Neonatal screening for biotinidase deficiency in north eastern Italy. ⁵⁶ ⁶¹	Burlina AB...Gaburro D	3391228	1988
45	Multiple carboxylase deficiency due to deficiency of biotinidase. ⁶¹ ⁵⁶	Thuy LP...Nyhan WL	3783319	1986
46	Neonatal screening for biotinidase deficiency: results of a 1-year pilot study. ⁵⁶ ⁶¹	Heard GS...Linyear AS	3944695	1986
47	Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program. ⁶¹ ⁵⁶	Wolf B...Weissbecker KA	4000223	1985
48	Biotinidase deficiency: presymptomatic treatment. ⁵⁶ ⁶¹	Wallace SJ	4015175	1985
49	Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency. ⁵⁶ ⁶¹	Suormala T...Baumgartner ER	3926500	1985
50	Biotinidase deficiency: factors responsible for the increased biotin requirement. ⁶¹ ⁵⁶	Baumgartner ER...Bonjour JP	3930842	1985
51	Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency. ⁶¹ ⁵⁶	Greter J...Koivikko M	3930850	1985
52	Biotinidase deficiency and the eye and ear. ⁶¹ ⁵⁶	Taitz LS...Bennet M	6137736	1983
53	Biotinidase deficiency in juvenile multiple carboxylase deficiency. ⁶¹ ⁵⁶	Thoene J...Wolf B	6135890	1983
54	Deficient biotinidase activity in late-onset multiple carboxylase deficiency. ⁶¹ ⁵⁶	Wolf B...Allen RJ	6848914	1983
55	First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice. ⁶¹ ²⁴	Wolf B	27014582	2016
56	Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss. ²⁴ ⁶¹	Wolf B	26358973	2015
57	First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children. ²⁴ ⁶¹	Senanayake DN...Wolf B	28649532	2015
58	The Biotinidase Gene Variants Registry: A Paradigm Public Database. ⁶¹ ²⁴	Procter M...Mao R	23550138	2013
59	Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. ²⁴ ⁶¹	Cowan TM...Schrijver I	22698809	2012
60	Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have". ⁶¹ ²⁴	Wolf B	22241090	2012
61	Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. ⁶	Centers for Disease Control and Prevention (CDC)	22475884	2012
62	The neurology of biotinidase deficiency. ⁶¹ ²⁴	Wolf B	21696988	2011
63	Carrier testing for severe childhood recessive diseases by next-generation sequencing. ⁶	Bell CJ...Kingsmore SF	21228398	2011
64	Technical standards and guidelines for the diagnosis of biotinidase deficiency. ²⁴ ⁶¹	Cowan TM...Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee	20539236	2010
65	Biotinidase Deficiency: New Directions and Practical Concerns. ²⁴ ⁶¹	Wolf B	12791199	2003
66	Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype. ⁶¹ ²⁴	Wolf B	11998918	2002
67	Structure of the human biotinidase gene. ⁶¹ ²⁴	Knight HC...Wolf B	9530634	1998
68	Biotinidase deficiency with neurological features resembling multiple sclerosis. ⁶¹ ²⁴	Tokatli A...Ozalp I	9323568	1997
69	Biotinidase and its roles in biotin metabolism. ⁶¹ ²⁴	Hymes J...Wolf B	8930409	1996
70	Biotinidase mutational "hotspot'. ⁶	Gordon A	8640218	1996
71	First trimester prenatal exclusion of biotinidase deficiency. ⁶¹ ²⁴	Chalmers RA...Stratton D	7707701	1994
72	Recovery from neurological deficits following biotin treatment in a biotinidase Km variant. ⁶¹ ²⁴	Ramaekers VT...Heimann G	8352834	1993
73	The major presenting symptom in a biotinidase-deficient patient: laryngeal stridor. ⁵⁶	Tokatli A...Gunay M	1527996	1992
74	Laryngeal stridor as a leading symptom in a biotinidase-deficient patient. ⁵⁶	Dionisi-Vici C...Sabetta G	3148078	1988
75	Sudden death associated with biotinidase deficiency. ²⁴ ⁶¹	Burton BK...Weissbecker KA	3822661	1987
76	Inheritable biotin-treatable disorders and associated phenomena. ⁵⁶	Sweetman L...Nyhan WL	3089241	1986
77	Long-term auditory and visual complications of biotinidase deficiency. ⁶¹ ²⁴	Taitz LS...Bartlett K	4054050	1985
78	Potential for prenatal diagnosis of biotinidase deficiency. ⁶¹ ²⁴	Secor McVoy JR...Wolf B	6483793	1984
79	Deficient liver biotinidase activity in multiple carboxylase deficiency. ⁵⁶	Gaudry M...Frezal J	6135889	1983
80	Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. ⁶¹ ²⁴	Wolf B...Kien CL	6883721	1983
81	Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency. ⁵⁶	Fischer A...Griscelli C	6212592	1982
82	Defective biotin absorption in multiple carboxylase deficiency. ⁵⁶	Munnich A...Frezal J	6114319	1981
83	Two forms of biotin-responsive multiple carboxylase deficiency. ⁵⁶	Sweetman L	6790844	1981
84	Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder. ⁵⁶	Sander JE...Wara DW	7436398	1980
85	A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduria. ⁵⁶	Bartlett K...Leonard JV	6766095	1980
86	A case of biotin-responsive 3-methylcrotonylglycin- and 3-hydroxyisovaleric aciduria. ⁵⁶	Lehnert W...Frasch W	499258	1979
87	Biotin-responsive alopecia and developmental regression. ⁵⁶	Charles BM...Taitz LS	88555	1979
88	Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria. ⁵⁶	Sweetman L...Nyhan WL	917614	1977
89	Evidence for the enzymic defect in beta-methylcrotonylglycinuria. ⁵⁶	Gompertz D...Bartlett K	4715674	1973
90	Biotin-responsive beta-methylcrotonylglycinuria. ⁵⁶	Gompertz D...Hull D	4103667	1971
91	[The importance of a law on time: presentation of a girl with biotinidase deficiency who was not picked up through the neonatal screening]. ⁶¹ ⁵⁴	Bay LB...Rodriguez R	20204226	2010
92	Neonatal screening for biotidinidase deficiency: results of a 1-year pilot study in four cities in central Anatolia. ⁶¹ ⁵⁴	Tanzer F...Buyukkayhan D	20333870	2009
93	Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency. ⁵⁴ ⁶¹	Perez-Monjaras A...Leon-Del-Rio A	18845537	2008
94	Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients. ⁶¹ ⁵⁴	Desai S...Hegde A	18545994	2008
95	Biotinidase deficiency and juvenile myelomonocytic leukemia in a Turkish infant of consanguineous parents. ⁶¹ ⁵⁴	Yetgin S...Niemeyer C	17710663	2007
96	Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary. ⁶¹ ⁵⁴	Milankovics I...Schuler A	17185019	2007
97	Spinal cord demyelination associated with biotinidase deficiency in 3 Chinese patients. ⁶¹ ⁵⁴	Yang Y...Wu XR	17621476	2007
98	Audiologic findings in children with biotinidase deficiency in Turkey. ⁶¹ ⁵⁴	Genc GA...Coskun T	17161472	2007
99	Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation. ⁶¹ ⁵⁴	Mikati MA...Rahi AC	17092467	2006
100	[Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency]. ⁵⁴ ⁶¹	Li D...Zhou R	17274881	2006
101	Qualitative colorimetric ultramicroassay for the detection of biotinidase deficiency in newborns. ⁶¹ ⁵⁴	Gonzalez EC...Perez PL	16480705	2006
102	[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]. ⁵⁴ ⁶¹	Bolhuis PA...Page-Christiaens GC	16398167	2005
103	Biotinidase: its role in biotinidase deficiency and biotin metabolism. ⁵⁴ ⁶¹	Wolf B	15992688	2005
104	Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result. ⁶¹ ⁵⁴	Hoffman TL...Ficicioglu C	15711955	2005
105	Successful pregnancy in a treated patient with biotinidase deficiency. ⁵⁴ ⁶¹	Hendriksz CJ...Chakrapani A	16151912	2005
106	Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency. ⁵⁴ ⁶¹	Santer R...Lukacs Z	15877202	2005
107	[Optic neuropathy in biotinidase deficiency]. ⁵⁴ ⁶¹	Puertas Bordallo D...Valls Ferran MI	15306966	2004
108	A boy with spastic paraparesis and dyspnea. ⁶¹ ⁵⁴	Kalkanoglu HS...Topaloglu H	15224716	2004
109	Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis. ⁵⁴ ⁶¹	Hou JW	15095958	2004
110	A case of partial biotinidase deficiency associated with autism. ⁵⁴ ⁶¹	Zaffanello M...Tato L	13680408	2003
111	Biotinidase deficiency: clinical and MRI findings consistent with myelopathy. ⁶¹ ⁵⁴	Wiznitzer M...Bangert BA	13679123	2003
112	[Screening for congenital hypothyroidism, phenylketonuria, galactosemia and biotinidase deficiency in a sample of mentally retarded patients in the city of Havana]. ⁵⁴ ⁶¹	Marrero-Gonzalez N...Lantigua-Cruz A	12766862	2003
113	[Diagnosis and treatment of biotinidase deficiency-clinical study of six patients]. ⁶¹ ⁵⁴	Yang YL...Wu X	14754524	2003
114	Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency. ⁵⁴ ⁶¹	Dobrowolski SF...Naylor EW	12618081	2003
115	Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies. ⁶¹ ⁵⁴	Laszlo A...Wolf B	14707518	2003
116	Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency. ⁶¹ ⁵⁴	Heller AJ...Wolf B	12372635	2002
117	Seventeen novel mutations that cause profound biotinidase deficiency. ⁵⁴ ⁶¹	Wolf B...Sykut-Cegielska J	12359137	2002
118	Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening. ⁶¹ ⁵⁴	Funghini S...Zammarchi E	12227467	2002
119	Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness. ⁵⁴ ⁶¹	Tsao CY...Kien CL	11952077	2002
120	[Biotinidase deficiency--a case report]. ⁶¹ ⁵⁴	Mrugacz M...Bakunowicz-Lazarczyk A	12608316	2002
121	[Biotinidase deficiency and eye]. ⁶¹ ⁵⁴	Mrugacz M...Sredzinska-Kita D	12608322	2002
122	Conservation of biotindase in mammals and identification of the putative biotinidase gene in Drosophila melanogaster. ⁶¹ ⁵⁴	Swango KL...Wolf B	11749055	2001
123	A new quantitative analytical method of serum biotinidase activity using biocytin as a substrate and its clinical significance in Japan. ⁵⁴ ⁶¹	Kumasaka K...Hashizume N	11282096	2001
124	Reversible deafness caused by biotinidase deficiency. ⁶¹ ⁵⁴	Straussberg R...Amir J	11033293	2000
125	The magnitude and challenge of false-positive newborn screening test results. ⁵⁴ ⁶¹	Kwon C...Farrell PM	10891024	2000
126	Biotinidase deficiency--a treatable entity. ⁶¹ ⁵⁴	Gulati S...Verma IC	10932969	2000
127	Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation. ⁶¹ ⁵⁴	Hwu WL...Tsai WY	10770035	2000
128	Biotinidase deficiency: a treatable genetic disorder in the Saudi population. ⁶¹ ⁵⁴	Joshi S...Ozand PT	11924114	1999
129	Chronic vaginal candidiasis responsive to biotin therapy in a carrier of biotinidase deficiency. ⁶¹ ⁵⁴	Strom CM...Levine EM	9764646	1998
130	[Prevalence study of biotinidase deficiency in newborns]. ⁶¹ ⁵⁴	Pinto AL...Antoniuk SA	9713119	1998
131	Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses. ⁵⁴ ⁶¹	Pomponio RJ...Wolf B	9516011	1998
132	[Multiple carboxylase deficiency]. ⁶¹ ⁵⁴	Andersen JB...Christensen E	9492625	1998
133	Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online. ⁵⁴ ⁶¹	Norrgard KJ...Wolf B	10206677	1998
134	Late presentation of biotinidase deficiency with acute visual loss and gait disturbance. ⁶¹ ⁵⁴	Rahman S...Pike MG	9433860	1997
135	Biotinidase deficiency: two cases of very early presentation. ⁶¹ ⁵⁴	Haagerup A...Christensen MF	9433861	1997
136	Cerebral metabolic changes in biotinidase deficiency. ⁶¹ ⁵⁴	Schurmann M...Gartner J	9427142	1997
137	Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States. ⁵⁴ ⁶¹	Norrgard KJ...Wolf B	9232193	1997
138	Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism. ⁶¹ ⁵⁴	Baumgartner ER...Suormala T	9350481	1997
139	Biotinidase deficiency: result of treatment with biotin from age 12 years. ⁶¹ ⁵⁴	Casado de Frias E...Perez Cerda C	10728214	1997
140	Biotinylation of histones by human serum biotinidase: assessment of biotinyl-transferase activity in sera from normal individuals and children with biotinidase deficiency. ⁶¹ ⁵⁴	Hymes J...Wolf B	8593541	1995
141	Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia. ⁶¹ ⁵⁴	Bay CA...Kaplan P	8750607	1995
142	Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases. ⁶¹ ⁵⁴	Coskun T...Ozalp I	7825232	1994
143	Biotinidase deficiency: early neurological presentation. ⁶¹ ⁵⁴	Collins JE...Leonard JV	8138076	1994
144	Screening for biotinidase deficiency in some skin diseases. ⁶¹ ⁵⁴	Marklova E...Nozickova M	7761790	1994
145	[Biotinidase deficiency. Progressive encephalopathy curable with biotin]. ⁵⁴ ⁶¹	Heron B...Ponsot G	8053766	1993
146	Biotinidase activity in patients with liver disease. ⁶¹ ⁵⁴	Nagamine T...Fukui T	8266019	1993
147	Combined pedigree and twin family study to determine the sources of variation in serum biotinidase activity: the usefulness of multiple study designs. ⁵⁴ ⁶¹	Weissbecker KA...Nance WE	8213911	1993
148	Reversal of brain atrophy with biotin treatment in biotinidase deficiency. ⁵⁴ ⁶¹	Bousounis DP...Wolf B	8232780	1993
149	Deteriorating neurological and neuroradiological course in treated biotinidase deficiency. ⁶¹ ⁵⁴	Ginat-Israeli T...Amir N	8327062	1993
150	Comparison of profound biotinidase deficiency in children ascertained clinically and by newborn screening using a simple method of accurately determining residual biotinidase activity. ⁶¹ ⁵⁴	Hart PS...Wolf B	1524870	1992
151	Biotinidase deficiency: a rare cause of laryngeal stridor. ⁶¹ ⁵⁴	Ataman M...Ozalp I	1592565	1992
152	[Juvenile optic neuropathy caused by Km variants of biotinidase]. ⁶¹ ⁵⁴	Brab M...Reim M	1315891	1992
153	Biochemical and immunologic characterization of serum biotinidase in partial biotinidase deficiency. ⁶¹ ⁵⁴	Hart PS...Wolf B	1561012	1992
154	Lipoamidase and biotinidase deficiency: evidence that lipoamidase and biotinidase are the same enzyme in human serum. ⁶¹ ⁵⁴	Nilsson L...Ronge E	1599976	1992
155	Neuropathology of biotinidase deficiency. ⁶¹ ⁵⁴	Honavar M...Chalmers RA	1441928	1992
156	Skin manifestations of biotin deficiency. ⁶¹ ⁵⁴	Mock DM	1764357	1991
157	[Biotinidase deficiency. Results of neonatal screening 1985-1989 in Lower Saxony]. ⁵⁴ ⁶¹	Schweitzer S...Brodehl J	1896047	1991
158	Isoforms of human serum biotinidase. ²⁴	Hart PS...Wolf B	2049867	1991
159	Screening for biotinidase deficiency in children with unexplained neurologic or developmental abnormalities. ⁶¹ ⁵⁴	Sutherland SJ...O'Brien JF	1706649	1991
160	Neonatal screening for biotinidase deficiency in east-Hungary. ⁶¹ ⁵⁴	Havass Z	1779652	1991
161	Partial biotinidase deficiency associated with Coffin-Siris syndrome. ⁶¹ ⁵⁴	Burlina AB...Zacchello F	2373113	1990
162	Screening for biotinidase deficiency in newborns: worldwide experience. ⁵⁴ ⁶¹	Wolf B...Heard GS	2314964	1990
163	Partial biotinidase deficiency: clinical and biochemical features. ⁶¹ ⁵⁴	McVoy JR...Wolf B	2295967	1990
164	Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample. ²⁴	Suormala T...Baumgartner ER	3918814	1985
165	Biotinidase deficiency in differential diagnosis of neuromyelitis optica spectrum disorder. ⁶¹	Bilge N...Yevgi R	32559702	2020
166	Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome. ⁶¹	Battini R...Servidei S	32209270	2020
167	The novel homozygous p.Asn197_Ser201del mutation in BTD gene is associated with profound biotinidase deficiency in an Iranian consanguineous family. ⁶¹	Torkamandi S...Gholami M	32281057	2020
168	Biotinidase Deficiency With Suspected Sotos Syndrome: A Rare Entity. ⁶¹	Ghazal S...Malik L	32523854	2020
169	Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population. ⁶¹	Hernandez-Nieto C...Sandler B	32003480	2020
170	Any individual with multiple sclerosis who markedly improves neurologically with high-doses of biotin should be evaluated for biotinidase deficiency. ⁶¹	Wolf B	32440355	2020
171	Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency. ⁶¹	Kellom ER...Stepien KE	32235217	2020
172	Health-care providers' perspectives on uncertainty generated by variant forms of newborn screening targets. ⁶¹	Azzopardi PJ...Hayeems RZ	31597957	2020
173	Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population. ⁶¹	Mardhiah M...Habib A	32300527	2020
174	Acrodermatitis enteropathica-like skin eruption with neonatal seizures in a child with biotinidase deficiency. ⁶¹	Patra S...Bhari N	31323123	2020
175	[A case of brain liquefaction caused by biotinidase deficiency]. ⁶¹	Niu HH...Shen YP	32102155	2020
176	Biotinidase Deficiency: Prevalence, Impact And Management Strategies. ⁶¹	Canda E...Coker M	32440248	2020
177	Biotinidase deficiency in a newborn. ⁶¹	El Moussaoui S...Maoulainine FMR	31594257	2020
178	Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency. ⁶¹	Al-Eitan LN...Haddad H	31973013	2020
179	Frequency of biotinidase gene variants and incidence of biotinidase deficiency in the Newborn Screening Program in Minas Gerais, Brazil. ⁶¹	Carvalho NO...Viana MB	31801038	2019
180	[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]. ⁶¹	Han XD...Deng J	31665838	2019
181	Biotin interference in immunoassays based on biotin-strept(avidin) chemistry: An emerging threat. ⁶¹	Luong JHT...Glennon JD	30872068	2019
182	Effect of BTD gene variants on in vitro biotinidase activity. ⁶¹	Borsatto T...Schwartz IVD	31337602	2019
183	Biotinidase deficiency: A treatable cause of opticospinal syndrome in young adults✰. ⁶¹	Van Iseghem V...Laureys G	31035122	2019
184	Genetic defect of the sodium-dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency. ⁶¹	Schwantje M...Visser G	31392107	2019
185	Epidemiology of rare diseases detected by newborn screening in the Czech Republic. ⁶¹	David J...Votava F	31241292	2019
186	Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil. ⁶¹	Carvalho NO...Viana MB	30912303	2019
187	Biotinidase Deficiency: A Treatable Neurological Inborn Error of Metabolism. ⁶¹	Hayek W...Spiegel R	30905112	2019
188	Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders. ⁶¹	Wolf B	30551056	2019
189	Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population. ⁶¹	Hsu RH...Lee NC	30616616	2019
190	Congenital biotinidase deficiency - MRI findings in two cases. ⁶¹	Ranjan RS...Gupta V	31000952	2019
191	Serum Level of Biotin Rather than the Daily Dosage Is the Main Determinant of Interference on Thyroid Function Assays. ⁶¹	Paketci A...Bober E	31655813	2019
192	Epilepsy in Biotinidase Deficiency Is Distinct from Early Myoclonic Encephalopathy. ⁶¹	Guliyeva U...Guliyeva S	30001564	2018
193	Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated. ⁶¹	Schiergens KA...Maier EM	29954013	2018
194	Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy. ⁶¹	Deschamps R...Gout O	29025919	2018
195	Single center experience of biotinidase deficiency: 259 patients and six novel mutations. ⁶¹	Canda E...Coker M	29995633	2018
196	Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. ⁶¹	Murry JB...BabySeq Project Team	29728376	2018
197	Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers. ⁶¹	Hong X...Gelb MH	29680633	2018
198	Are we missing patients with biotinidase deficiency in France? ⁶¹	Deschamps R...Gout O	29778138	2018
199	Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey. ⁶¹	Seker Yilmaz B...Ceylaner S	29353266	2018
200	Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China. ⁶¹	Liu Z...Liu L	29359854	2018
201	ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics. ⁶¹	Strovel ET...Wolf B	29240078	2018
202	Biotinidase deficiency masquerading as multiple sclerosis? ⁶¹	Wolf B	28337933	2018
203	Reply to the letter: Biotinidase deficiency masquerading as multiple sclerosis? ⁶¹	Tourbah A...Sedel F	28337934	2018
204	Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review. ⁶¹	Althonaian N...Alfadhel M	29445937	2018
205	Could nodding syndrome in Northern Uganda be a form of autism spectrum disorder? an observational study design. ⁶¹	Arony DA...Kitara DL	30364427	2018
206	Characterizing the Biotinidase Deficiency in a Child When Considering a Possible Disease Association. ⁶¹	Wolf B	28991128	2018
207	Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor β1 and biotinidase deficiencies. ⁶¹	Dogruel D...Altintas DU	30968642	2018
208	Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy. ⁶¹	Mastrangelo M	29899766	2018
209	Neonatal screening for biotinidase deficiency: A 30-year single center experience. ⁶¹	Porta F...Spada M	28971021	2017
210	"Think metabolic" in adults with diagnostic challenges: Biotinidase deficiency as a paradigm disorder. ⁶¹	Wolf B	29431165	2017
211	Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics. ⁶¹	Strovel ET...Wolf B	28682309	2017
212	Developmental window of sensorineural deafness in biotinidase-deficient mice. ⁶¹	Maheras KJ...Gow A	28516283	2017
213	Corrigendum to "First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children" [Mol. Genet. Metab. Rep. 2 (2016) 81-84]. ⁶¹	Senanayake DN...Wolf B	28653700	2017
214	A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency. ⁶¹	Yilmaz S...Serdaroglu G	28281033	2017
215	[Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up]. ⁶¹	Hong F...Zhao Z	29039164	2017
216	Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. ⁶¹	Wolf B	27657684	2017
217	Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease. ⁶¹	Landau YE...Levy HL	28054209	2017
218	Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease. ⁶¹	Girard B...Bilbault C	27207447	2017
219	Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency. ⁶¹	Ferreira P...Wolf B	28220409	2017
220	Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. ⁶¹	Borsatto T...D Schwartz IV	28498829	2017
221	Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. ⁶¹	Borsatto T...Schwartz IVD	28640880	2017
222	Differential gene expression during early development in brains of wildtype and biotinidase-deficient mice. ⁶¹	Brigolin C...Wolf B	27752475	2016
223	Subcortical DNET in a Patient With an Enzymatic Deficiency: A Rare Case and Review of the Literature. ⁶¹	Infinger LK...Bredlau AL	27271814	2016
224	Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population. ⁶¹	Asgari A...Khatami S	27845546	2016
225	Diagnostic Dilemma Of Biotinidase Deficiency: Case Of A Child From Pakistan. ⁶¹	Shoaib M...Aijaz Z	28586590	2016
226	Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations. ⁶¹	Wiltink RC...Williams M	27329734	2016
227	A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit. ⁶¹	Demirturk Z...Telci L	27761288	2016
228	Biotinidase deficiency and our champagne legacy. ⁶¹	Wolf B	26456103	2016
229	Comment on: Childhood optic atrophy in biotinidase deficiency. ⁶¹	Venugopal N...Kummararaj S	27688290	2016
230	Clinical utility gene card for: Biotinidase deficiency-update 2015. ⁶¹	Kury S...Wolf B	26577040	2016
231	Celiac Disease Presenting with Biotinidase Deficiency and Paraplegia. ⁶¹	Erdol S...Okan MS	26830281	2016
232	Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency. ⁶¹	Talebi H...Yaghini O	27144235	2016
233	Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency. ⁶¹	Iseri-Erten SO...Ulusu NN	28356871	2016
234	Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn. ⁶¹	Thodi G...Loukas YL	26656798	2016
235	Forty-eight novel mutations causing biotinidase deficiency. ⁶¹	Procter M...Mao R	26810761	2016
236	Inherited metabolic disorders in Turkish patients with autism spectrum disorders. ⁶¹	Kiykim E...Aydin A	26055667	2016
237	Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014). ⁶¹	Al-Jasmi FA...Souid AK	26589311	2016
238	[The criteria of early detection of biotinidase deficiency-based epilepsy]. ⁶¹	Malov AG...Serebrennikova EB	27240052	2016
239	Outcomes of oral biotin treatment in patients with biotinidase deficiency - Twenty years follow-up. ⁶¹	Szymanska E...Tylki-Szymanska A	28649539	2015
240	Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India. ⁶¹	Singh A...Kapoor S	26816961	2015
241	Neurometabolic Disorders-Related Early Childhood Epilepsy: A Single-Center Experience in Saudi Arabia. ⁶¹	Mohamed S...Abu-Amero KK	26117549	2015
242	Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014). ⁶¹	Gannavarapu S...Rupar CA	26361991	2015
243	Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder. ⁶¹	Bhat MD...Verma A	26037171	2015
244	Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood. ⁶¹	Bottin L...Stankoff B	26203071	2015
245	Nuclear Gene-Encoded Leigh Syndrome Overview ⁶¹	Rahman S...Thorburn D	26425749	2015
246	Quantitative Analytical Method for the Determination of Biotinidase Activity in Dried Blood Spot Samples. ⁶¹	Szabo E...Takats Z	26400555	2015
247	Newborn Screening: What Does the Emergency Physician Need to Know? ⁶¹	Lavin LR...Abramo T	26335232	2015
248	Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency. ⁶¹	Vallejo-Torres L...Serrano-Aguilar P	26169436	2015
249	Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening. ⁶¹	Karaca M...Sivri HS	25754625	2015
250	Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. ⁶¹	Tonin R...Morrone A	25795614	2015
251	Biotinidase deficiency mimicking primary immune deficiencies. ⁶¹	Kiykim E...Zeybek CA	25956498	2015
252	Feasibility study of an outreach program of newborn screening in Uttar Pradesh. ⁶¹	Agarwal M...Phadke SR	25366286	2015
253	Why screen newborns for profound and partial biotinidase deficiency? ⁶¹	Wolf B	25638506	2015
254	Mutations in BTD gene causing biotinidase deficiency: a regional report. ⁶¹	Kasapkara CS...Tanyalcin T	25423671	2015
255	Brainstem and spinal cord lesions associated with skin changes and hearing loss: think of biotinidase deficiency. ⁶¹	Cabasson S...Dulubac E	25556014	2015
256	Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years. ⁶¹	Jay AM...Wolf B	25144890	2015
257	A rare mutation in EIF2B4 gene in an epileptic child with vanishing white matter disease: a case report. ⁶¹	Gungor O...Aydin K	26043506	2015
258	Severe neonatal holocarboxylase synthetase deficiency in west african siblings. ⁶¹	De Castro M...Kirmse B	25690727	2015
259	Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report. ⁶¹	Koohmanaee S...Dalili S	26221165	2015
260	High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil. ⁶¹	Lara MT...Januario JN	25967232	2015
261	[Biotinidase deficiency and vascular ring malformation: case report]. ⁶¹	Gonzalez-Salazar F...Vargas-Camacho G	25192539	2014
262	Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. ⁶¹	Borsatto T...Schwartz IV	25174816	2014
263	Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India. ⁶¹	Gopalakrishnan V...Bhatia V	25228601	2014
264	Multiple carboxylase deficiency (late onset) due to deficiency of biotinidase. ⁶¹	Mukhopadhyay D...Mukhopadhyay M	25284861	2014
265	Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene. ⁶¹	Li H...Wolf B	24797656	2014
266	Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency. ⁶¹	Pindolia K...Wolf B	24630269	2014
267	Austrian Newborn Screening Program: a perspective of five decades. ⁶¹	Pollak A...Kasper DC	24225125	2014
268	Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011. ⁶¹	Al Hosani H...Hertecant J	24932929	2014
269	Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates. ⁶¹	Al-Shamsi A...Al-Jasmi F	24516753	2014
270	Optic neuropathy due to biotinidase deficiency in a 19-year-old man. ⁶¹	Haines SR...Longmuir RA	24525934	2014
271	Biotinidase deficiency: novel mutations in Algerian patients. ⁶¹	Tiar A...Abdelhak S	23481307	2014
272	Management of anesthesia in biotinidase deficiency. ⁶¹	Goktas U...Palabiyik O	24574621	2014
273	Abnormal cerebrospinal fluid biochemistry in biotinidase deficiency causing diagnostic conundrum. ⁶¹	Krishnakumar D...Parker AP	23220796	2014
274	Role of optic microscopy for early diagnosis of Menkes disease. ⁶¹	Craiu D...Craiu M	25329126	2014
275	The development and organization of newborn screening programs in Turkey. ⁶¹	Tezel B...Dilmen U	24375520	2014
276	NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates. ⁶¹	Aygen S...Tuncer O	25012580	2014
277	Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns. ⁶¹	Graham C...Pamula VK	24036022	2013
278	Biotinidase knockout mice show cellular energy deficit and altered carbon metabolism gene expression similar to that of nutritional biotin deprivation: clues for the pathogenesis in the human inherited disorder. ⁶¹	Hernandez-Vazquez A...Velazquez-Arellano A	24075304	2013
279	[Vitamin-responsive epilepsies: an update]. ⁶¹	Tabarki B...Thabet F	24080039	2013
280	Diagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan. ⁶¹	Afroze B...Wasay M	24169397	2013
281	Etiology and outcome of inborn errors of metabolism. ⁶¹	Choudhry S...Khan EA	24601187	2013
282	Biotinidase deficiency in childhood. ⁶¹	Venkataraman V...Jamal R	24005734	2013
283	High incidence of partial biotinidase deficiency cases in newborns of Greek origin. ⁶¹	Thodi G...Biti S	23644139	2013
284	Hair-shaft abnormality in a 7-year-old girl. Trichorrhexis nodosa dueto biotinidase deficiency. ⁶¹	Lunnemann L...Garcia Bartels N	23552716	2013
285	Biotinidase deficiency: a reversible neurometabolic disorder (an Iranian pediatric case series). ⁶¹	Karimzadeh P...Tonekaboni SH	24665318	2013
286	Biotinidase Deficiency, Bilateral Optic Atrophy, and a Visual Field Defect. ⁶¹	Chamney S...McLoone E	28167995	2013
287	Biotinidase deficiency: an atypical presentation. ⁶¹	Jagadeesh S...Suzuki Y	24066991	2013
288	Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E. ⁶¹	Baumgartner MR	23622402	2013
289	Ataxia. ⁶¹	Winchester S...Mikati MA	23622331	2013
290	[Expanded newborn screening in the Region of Murcia, Spain. Three-years experience]. ⁶¹	Juan-Fita MJ...Fernandez-Sanchez A	22137990	2012
291	Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration. ⁶¹	Pindolia K...Wolf B	22579707	2012
292	A microsphere-based assay for mutation analysis of the biotinidase gene using dried blood spots. ⁶¹	Lindau-Shepard B...Pass KA	27625817	2012
293	Hemophagocytic syndrome in a 4-month-old infant with biotinidase deficiency. ⁶¹	Kardas F...Kendirci M	22605457	2012
294	Biotinidase deficiency in Pakistani children; what needs to be known and done. ⁶¹	Afroze B...Wasay M	22755269	2012
295	Optic neuritis in a child with biotinidase deficiency: case report and literature review. ⁶¹	Hayati AA...Shatriah I	22457589	2012
296	Biotinidase deficiency. ⁶¹	Tomar R...Vasudevan R	24623922	2012
297	Epilepsy in biotinidase deficiency after biotin treatment. ⁶¹	Mico SI...Fernandez CC	23430899	2012
298	VACTERL association: a new case with biotinidase deficiency and annular pancreas. ⁶¹	Sezer RG...Aydinoz S	22010814	2012
299	Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening. ⁶¹	Thodi G...Doulgerakis E	22011816	2011
300	A girl with spastic tetraparesis associated with biotinidase deficiency. ⁶¹	Komur M...Atici A	21571559	2011
301	[Biotinidase deficiency: the two faces of metabolic screening]. ⁶¹	Pintos-Morell G	21764085	2011
302	[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease]. ⁶¹	Couce ML...Ugarte M	21752405	2011
303	Biotinidase deficiency presenting as recurrent myelopathy in a 7-year-old boy and a review of the literature. ⁶¹	Raha S...Udani V	21907891	2011
304	Biotinidase deficiency--clinching the diagnosis rapidly can make all the difference! ⁶¹	Rajendiran A...Sampath S	22679321	2011
305	Ohtahara syndrome with biotinidase deficiency. ⁶¹	Singhi P...Ray M	21115748	2011
306	Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder. ⁶¹	Pindolia K...Wolf B	21051254	2011
307	Peculiar neuroimaging and electrophysiological findings in a patient with biotinidase deficiency. ⁶¹	Bunch M...Singh A	21123088	2011
308	Profound biotinidase deficiency: a rare disease among native Swedes. ⁶¹	Ohlsson A...von Dobeln U	20224900	2010
309	Newborn screening conditions: What we know, what we do not know, and how we will know it. ⁶¹	Levy HL	21150366	2010
310	Expanded newborn screening in Greece: 30 months of experience. ⁶¹	Loukas YL...Papadopoulos K	20721692	2010
311	High frequencies of biotinidase (BTD) gene mutations in the Hungarian population. ⁶¹	Milankovics I...Fekete G	20549359	2010
312	The national Austrian newborn screening program - eight years experience with mass spectrometry. past, present, and future goals. ⁶¹	Kasper DC...Herkner KR	20938748	2010
313	Two unusual clinical and radiological presentations of biotinidase deficiency. ⁶¹	Mc Sweeney N...Hemingway C	20153672	2010
314	Analysis of mutations causing biotinidase deficiency. ⁶¹	Pindolia K...Wolf B	20556795	2010
315	Holocarboxylase synthetase deficiency: novel clinical and molecular findings. ⁶¹	Tammachote R...Shotelersuk V	20095979	2010
316	The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC). ⁶¹	Iqbal F...Bodamer OA	20083419	2010
317	[Epilepsy onset between one month and three months of life: our 11 years experience]. ⁶¹	Perez Delgado R...Pena Segura JL	20487708	2010
318	[Epileptic encephalopathy due to partial biotinidase deficiency]. ⁶¹	Lafuente-Hidalgo M...Baldellou Vazquez A	20171151	2010
319	Biotin responsive seizures and encephalopathy due to biotinidase deficiency. ⁶¹	Joshi SN...Bayoumi R	20508364	2010
320	Biotinidase deficiency: A treatable cause of infantile seizures. ⁶¹	Bhardwaj P...Chandel A	21042519	2010
321	Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency. ⁶¹	Ye J...Gu XF	19728141	2009
322	High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota. ⁶¹	Sarafoglou K...Berry SA	19757147	2009
323	Brain diffusion-weighted and diffusion tensor imaging findings in an infant with biotinidase deficiency. ⁶¹	Soares-Fernandes JP...Barkovich AJ	19509076	2009
324	The effects of biotin supplementation on serum and liver tissue biotinidase enzyme activity and alopecia in rats which were administrated to valproic acid. ⁶¹	Arslan M...Ozcan O	18814980	2009
325	Current trends in the treatment of infantile spasms. ⁶¹	Tsao CY	19557123	2009
326	Biotinidase deficiency with hypertonia as unusual feature. ⁶¹	Rathi N...Rathi M	19179722	2009
327	[Updating neonatal neurometabolic screening]. ⁶¹	Alfonso I...Charria G	19240000	2009
328	Biotin and biotinidase deficiency. ⁶¹	Zempleni J...Wijeratne SS	19727438	2008
329	Biotinidase deficiency. ⁶¹	Dahiphale R...Agrawal M	18820388	2008
330	[Prevalence of diseases diagnosed by the Program of Neonatal Screening in Maringá, Paraná, Brazil: 2001-2006]. ⁶¹	Luz Gdos S...Higarashi IH	19068582	2008
331	Determination of biotin (vitamin H) by the high-performance affinity chromatography with a trypsin-treated avidin-bound column. ⁶¹	Hayakawa K...Nagamine T	18514598	2008
332	[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children]. ⁶¹	Xie LJ...Gu XF	18289467	2008
333	[Values of tandem mass spectrometry in etiologic diagnosis of cerebral developmental retardation]. ⁶¹	Zhang JM...Wang MX	18339284	2007
334	Three dimensional structure of human biotinidase: computer modeling and functional correlations. ⁶¹	Pindolia K...Wolf B	17629531	2007
335	Long-term follow-up of hearing loss in biotinidase deficiency. ⁶¹	Welling DB	17761663	2007
336	Neonatal screening in Europe; the situation in 2004. ⁶¹	Loeber JG	17616847	2007
337	Newborn screening fact sheets. ⁶¹	Kaye CI...Michele A LP	16950973	2006
338	Introduction to the newborn screening fact sheets. ⁶¹	Kaye CI...Schaefer GB	16960984	2006
339	Serum and liver tissue biotinidase enzyme activity in rats which were administrated to valproic acid. ⁶¹	Korkmazer N...Gokcay E	16682156	2006
340	Comprehensive cost-utility analysis of newborn screening strategies. ⁶¹	Carroll AE...Downs SM	16735255	2006
341	Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. ⁶¹	Sass JO...Omran H	16465618	2006
342	Community genetics and dignity in diversity in the Quebec Network of Genetic Medicine. ⁶¹	Scriver CR	16741343	2006
343	An overview of hereditary hearing loss. ⁶¹	Bayazit YA...Yilmaz M	16428895	2006
344	Biotinidase reveals the morphogenetic sequence in cochlea and cochlear nucleus of mice. ⁶¹	Brumwell CL...Wolf B	16107307	2005
345	Evolutionary conservation of biotinidase: implications for the enzyme's structure and subcellular localization. ⁶¹	Wolf B...Jensen K	16150625	2005
346	Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. ⁶¹	Wolf B...Slonim AE	15776412	2005
347	Emergency department presentation of biotinidase deficiency: fulminant sepsis in a 4-year-old Hispanic male. ⁶¹	Reed JJ...Rupp T	14716165	2004
348	[West's syndrome. Analysis, aetiological factors and therapeutic options]. ⁶¹	Campistol J...Garcia-Cazorla A	14533111	2003
349	Biotinidase deficiency-Diagnosis by enzyme assay and a follow-up study. ⁶¹	Ananth N...Praveen Kumar GS	23105388	2003
350	The effect of neonatal jaundice on biotinidase activity. ⁶¹	Schulpis KH...Costalos C	12706308	2003
351	Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia. ⁶¹	Wolf B...Ward JC	14739685	2003
352	Newborn screening compared to clinical identification of biochemical genetic disorders. ⁶¹	Waisbren SE...New England Consortium of Metabolic Programs	12638945	2002
353	Biotin-dependent carboxylase activities in different CNS and skin-derived cells, and their sensitivity to biotin-depletion. ⁶¹	Suormala T...Baumgartner ER	12214565	2002
354	Biocytin and biotin uptake into NB2a neuroblastoma and C6 astrocytoma cells. ⁶¹	Baur B...Baumgartner ER	11792359	2002
355	Neonatal biochemical screening for disease. ⁶¹	Clague A...Thomas A	11728413	2002
356	Low serum biotinidase activity in children with valproic acid monotherapy. ⁶¹	Schulpis KH...Tsakiris S	11737173	2001
357	[Biotinidase deficiency]. ⁶¹	Suzuki Y	11462434	2001
358	Cutaneous and neurologic manifestations of biotinidase deficiency. ⁶¹	Navarro PC...Ortiz FJ	10849128	2000
359	[Model project for updating neonatal screening in Bavaria: concept and initial results]. ⁶¹	Liebl B...Roscher AA	10844815	2000
360	Biotin and biocytin uptake into cultured primary calf brain microvessel endothelial cells of the blood-brain barrier. ⁶¹	Baur B...Baumgartner ER	10708686	2000
361	Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations. ⁶¹	Blanton SH...Wolf B	10799968	2000
362	Novel mutations in children with profound biotinidase deficiency from Saudi Arabia. ⁶¹	Pomponio RJ...Wolf B	10801060	2000
363	Amino acid homologies between human biotinidase and bacterial aliphatic amidases: putative identification of the active site of biotinidase. ⁶¹	Swango KL...Wolf B	10720437	2000
364	Sickle-cell disease not identified by newborn screening because of prior transfusion. ⁶¹	Reed W...Vichinsky EP	10657834	2000
365	Examination of the signal peptide region of human biotinidase using a baculovirus expression system. ⁶¹	Norrgard KJ...Wolf B	10655158	2000
366	[Biotinidase deficiency: importance of its neonatal diagnosis and early treatment]. ⁶¹	Couce Pico ML...Fraga JM	10394193	1999
367	The effect of isotretinoin on biotinidase activity. ⁶¹	Schulpis KH...Karikas GA	10325581	1999
368	Incidence of biotinidase deficiency in Turkish newborns. ⁶¹	Baykal T...Demirkol M	9825985	1998
369	A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism. ⁶¹	Thomason MJ...Seymour CA	9793900	1998
370	Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy. ⁶¹	Suormala T...Baumgartner ER	9686819	1998
371	[Programs of systematic screening in neonatology. Pharmaco-economic aspects]. ⁶¹	Schoos R...Koulischer L	9689890	1998
372	[Biotinidase deficiency (late-onset multiple carboxylase deficiency)]. ⁶¹	Sakamoto O...Narisawa K	9645048	1998
373	[Biotinidase deficiency]. ⁶¹	Casado de Frias E	9616944	1997
374	A colorimetric assay of lipoyl-N-epsilon-lysine hydrolysis activity using 2,6-dibromoquinone-4-chlorimide. ⁶¹	Garganta CL...Wolf B	8811903	1996
375	[Biotinidase deficiency. Its form of presentation and response to treatment]. ⁶¹	Campistol J...Riudor E	8796946	1996
376	Plasma total odd-chain fatty acids in the monitoring of disorders of propionate, methylmalonate and biotin metabolism. ⁶¹	Coker M...Duran M	8982947	1996
377	Late-onset holocarboxylase synthetase deficiency. ⁶¹	Gibson KM...Mize CE	8982946	1996
378	Current approaches to genetic metabolic screening in newborns. ⁶¹	Levy HL...Cornier AS	7849819	1994
379	Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism. ⁶¹	Worthen HG...Rashed M	7726385	1994
380	Normalisation of severe cranial CT scan abnormalities after biotin in a case of biotinidase deficiency. ⁶¹	Bakker HD...van Gennip AH	7843204	1994
381	Biocytin-specific 110-kDa biotinidase from human serum. ⁶¹	Oizumi J...Hayakawa K	8513569	1993
382	Cerebrospinal fluid organic acids in biotinidase deficiency. ⁶¹	Duran M...Poll-The BT	7609439	1993
383	Neonatal screening for biotinidase deficiency. ⁶¹	Forman DT...Highsmith WE	1503382	1992
384	[National screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia]. ⁶¹	Osorio RV...Soares JP	1595380	1992
385	Skin signs of nutritional disorders. ⁶¹	Prendiville JS...Manfredi LN	1550720	1992
386	[25 years Austrian screening program for inborn errors of metabolism at the Vienna University]. ⁶¹	Widhalm K	1413809	1992
387	Chromosomal and biochemical screening on mentally retarded school children in Taiwan. ⁶¹	Wuu KD...Hsiao KJ	1753440	1991
388	Rat as a potential model for hearing loss in biotinidase deficiency. ⁶¹	Rybak LP...Bhardwaj B	2018287	1991
389	Effects of age and biotin status on postnatal development of plasma biotinidase activity in rats. ⁶¹	Heard GS...Wolf B	2015113	1991
390	Biotinidase deficiency. ⁶¹	Wolf B...Heard GS	1927696	1991
391	Lipoamidase activity in human serum is due to biotinidase. ⁶¹	Garganta CL...Wolf B	2225462	1990
392	Biotinidase deficiency in black children. ⁶¹	Lara EB...Snyderman SE	2329428	1990
393	Na(+)-dependent biotin transport into brush-border membrane vesicles from rat kidney. ⁶¹	Baur B...Baumgartner ER	2330980	1990
394	[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]. ⁶¹	Anger H...Cobet G	2356250	1990
395	Fatty acid transport in multiple carboxylase deficiency fibroblasts. ⁵⁴	Packman S...Whitney S	2123277	1990
396	[Biotinidase deficiency: a congenital metabolic disease which can be successfully treatment with vitamin H]. ⁶¹	Nothjunge J...Baumgartner ER	2608075	1989
397	Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome. ⁶¹	Baumgartner ER...Vest M	2587127	1989
398	Biotinidase deficiency associated with severe combined immunodeficiency. ⁶¹	Hurvitz H...Amir N	2568564	1989
399	The quantitation of biotinidase activity in dried blood spots using microtiter transfer plates: identification of biotinidase-deficient and heterozygous individuals. ⁶¹	Pettit DA...Wolf B	2774184	1989
400	Requirement of high biotin doses in a case of biotinidase deficiency. ⁶¹	Riudor E...Ballabriga A	2515382	1989
401	Nutritional therapy for selected inborn errors of metabolism. ⁶¹	Levy HL	2681328	1989
402	[Changes in the hair in a case of biotinidase deficiency]. ⁶¹	Calvieri S...Innocenzi D	2619167	1989
403	[The hair in a case of biotinidase deficiency]. ⁶¹	Calvieri S...Farnetani MA	3254327	1988
404	Simon has biotinidase deficiency. ⁶¹	Monsma M...Eleniak D	3195302	1988
405	"Cerebral" lactic acidosis and biotinidase deficiency. ⁶¹	Jaeken J...Casaer P	3234447	1988
406	Quantitative determination of biocytin in urine of patients with biotinidase deficiency using high-performance liquid chromatography (HPLC). ⁶¹	Suormala TM...Wick H	3148376	1988
407	Low biotinidase activity in plasma of some preterm infants: possible source of false-positive screening results. ⁶¹	Suormala T...Baumgartner ER	3409923	1988
408	Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities. ⁶¹	Holme E...Kristiansson B	3148068	1988
409	Inborn errors of biotin metabolism. ⁶¹	Nyhan WL	3318710	1987
410	A qualitative assessment of biotinidase deficiency. ⁶¹	Bankson DD...Forman DT	3500673	1987
411	[Biotinidase deficiency: disease with mainly neurocutaneous manifestations responding to biotin]. ⁶¹	Marandian MH...Fallah A	3426084	1987
412	A simple method for quantification of biotinidase activity in dried blood spot and its application to screening of biotinidase deficiency. ⁶¹	Yamaguchi A...Takasugi N	3660404	1987
413	Ocular aspects in biotinidase deficiency. Clinical and genetic original studies. ⁶¹	Campana G...Pavari E	3658339	1987
414	Determination of biocytin. ⁶¹	Ebrahim H...Dakshinamurti K	3111297	1987
415	Immunological comparison of biotinidase in serum from normal and biotinidase-deficient individuals. ⁶¹	Wolf B...Shapira E	3107856	1987
416	[Results of a pilot study of neonatal screening for congenital biotinidase deficiency]. ⁶¹	Sander J...Niehaus C	3796633	1986
417	A new solid-phase assay for biotin and biocytin and its application to the study of patients with biotinidase deficiency. ⁶¹	Chan PW...Bartlett K	3095002	1986
418	Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin. ⁶¹	Diamantopoulos N...Roe C	3736876	1986
419	Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease. ⁶¹	Mitchell G...Rocchiccioli F	3762868	1986
420	Screening for biotinidase deficiency. ⁶¹	Lyon IC...Webster DR	3702961	1986
421	Biotinidase deficiency: metabolites in CSF. ⁶¹	Fois A...Bachmann C	3099073	1986
422	Biotin-responsive encephalopathy with myoclonus, ataxia, and seizures. ⁶¹	Bressman S...Maltese W	3946108	1986
423	Neurologic symptoms of biotinidase deficiency: possible explanation. ⁶¹	Suchy SF...Wolf B	4033935	1985
424	Biotinidase deficiency. ⁶¹	Wolf B...Grier RE	3925856	1985
425	Biotinidase deficiency associated with renal loss of biocytin and biotin. ⁶¹	Baumgartner ER...Bonjour JP	3925858	1985
426	Enzyme studies in biotin-responsive disorders. ⁶¹	Bartlett K...Wastell H	2864473	1985
427	Phenotypic variability in biotinidase deficiency. ⁶¹		6726540	1984
428	A screening method for biotinidase deficiency in newborns. ⁶¹	Heard GS...Wolf B	6690118	1984
429	The management and long term outcome of organic acidaemias. ⁶¹	Leonard JV...Bartlett K	6434837	1984
430	Biotinidase deficiency: clinical course and biochemical findings. ⁶¹	Schubiger G...Bachmann C	6438396	1984
431	Detection of biocytin in urine of children with congenital biotinidase deficiency. ⁶¹	Bonjour JP...Baumgartner ER	6438010	1984
432	Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency. ⁶¹	Di Rocco M...Baumgartner R	6434860	1984
433	Biotinidase deficiency: the possible role of biotinidase in the processing of dietary protein-bound biotin. ⁶¹	Wolf B...Raetz HM	6434861	1984
434	A sensitive radioassay for biotinidase activity: deficient activity in tissues of serum biotinidase-deficient individuals. ⁶¹	Wolf B...Secor McVoy J	6661819	1983
435	Phenotypic variation in biotinidase deficiency. ⁶¹	Wolf B...Hurst DL	6875714	1983

Sources

Genes for Biotinidase Deficiency

Genes related to Biotinidase Deficiency (1 elite genes):

(showing 18, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	BTD	Biotinidase	Protein Coding	1712.54	Molecular basis known ⁵⁶ Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	9654207 10400129 9705240 (more) 7550325 7509806 21228398 20301497 22378278 9158148 10801053 8640218 22475884 9375914 9099842 8894703 12618081 7550325 1896047 18545994 9350481 2314964 2295967 15060693 1561012 17161472 9375914 20333870 1779651 11388594 9654207 1779652 13680408 1706649 11952077 15711955 9099842 8053766 17621476 13679123 9713119 9516011 14707518 9764646 18645204 9433861 10400129 9433860 1729884 8327137 8750607 1877614 2109151 11033293 10932969 7825232 8138076 8232780 8412000 10206677 9492625 14628140 9506660 9396567 1739323 15328559 12227467 11749055 9427142 8283357 1599976 15306966 14754524 9232193 16480705 11924114 15877202 12608316 12359137 8593541 10891024 1524870 8327062 9705240 10728214 8894703 8278163 1315891 20129807 20204226 18845537 17710663 12608322 16435182 15224716 9158148 7761790 8213911 1441928 17382128 16151912 11865279 15992688 15230462 17185019 2373113 17092467 12372635 11313766 11282096 10801053 8266019 1764357 12766862 1592565
2	HLCS	Holocarboxylase Synthetase	Protein Coding	25.14	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	18845537 9492625 2123277 (more) 7825232 9764646 15095958 10770035 1779652 17274881 8053766 16398167
3	PCCB	Propionyl-CoA Carboxylase Subunit Beta	Protein Coding	11.38	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
4	PC	Pyruvate Carboxylase	Protein Coding	6.38	DISEASES inferred ¹⁵
5	SLC5A6	Solute Carrier Family 5 Member 6	Protein Coding	6.38	DISEASES inferred ¹⁵
6	LPL	Lipoprotein Lipase	Protein Coding	6.22	GeneCards inferred via : Publications (show sections)
7	SUOX	Sulfite Oxidase	Protein Coding	6.06	DISEASES inferred ¹⁵
8	PNPO	Pyridoxamine 5'-Phosphate Oxidase	Protein Coding	6.03	DISEASES inferred ¹⁵
9	MOCS1	Molybdenum Cofactor Synthesis 1	Protein Coding	5.93	DISEASES inferred ¹⁵
10	VNN2	Vanin 2	Protein Coding	5.82	DISEASES inferred ¹⁵
11	ACADS	Acyl-CoA Dehydrogenase Short Chain	Protein Coding	5.76	DISEASES inferred ¹⁵
12	HECTD4	HECT Domain E3 Ubiquitin Protein Ligase 4	Protein Coding	5.69	DISEASES inferred ¹⁵
13	PAH	Phenylalanine Hydroxylase	Protein Coding	5.65	DISEASES inferred ¹⁵
14	HADH	Hydroxyacyl-CoA Dehydrogenase	Protein Coding	5.63	DISEASES inferred ¹⁵
15	MMD	Monocyte To Macrophage Differentiation Associated	Protein Coding	5.62	DISEASES inferred ¹⁵
16	POLG	DNA Polymerase Gamma, Catalytic Subunit	Protein Coding	5.47	DISEASES inferred ¹⁵
17	EIF2B4	Eukaryotic Translation Initiation Factor 2B Subunit Delta	Protein Coding	5.47	DISEASES inferred ¹⁵
18	HIBCH	3-Hydroxyisobutyryl-CoA Hydrolase	Protein Coding	5.46	DISEASES inferred ¹⁵

Sources

Variations for Biotinidase Deficiency

ClinVar genetic disease variations for Biotinidase Deficiency:

⁶ (showing 316, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	BTD	NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter)	SNV	Pathogenic	552232	rs760612966	3:15686489-15686489	3:15644982-15644982
2	BTD	NM_000060.4(BTD):c.246_254del (p.Leu83_Leu85del)	deletion	Pathogenic	587750	rs397514346	3:15677132-15677140	3:15635625-15635633
3	BTD	NM_001370658.1(BTD):c.261_262TA[3] (p.Val89Ter)	short repeat	Pathogenic	587708	rs1559596792	3:15683425-15683426	3:15641918-15641919
4	BTD	NM_001370658.1(BTD):c.266dup (p.Phe90fs)	duplication	Pathogenic	587709	rs1559596828	3:15683430-15683431	3:15641923-15641924
5	BTD	NM_000060.4(BTD):c.393del (p.Phe131Leufs)	deletion	Pathogenic	587746	rs397514356	3:15683498-15683498	3:15641991-15641991
6	BTD	NM_001370658.1(BTD):c.346del (p.Gln116fs)	deletion	Pathogenic	587711	rs1404904752	3:15683508-15683508	3:15642001-15642001
7	BTD	NM_001370658.1(BTD):c.1419del (p.Tyr474fs)	deletion	Pathogenic	574460	rs1559600938	3:15686841-15686841	3:15645334-15645334
8	BTD	NM_000060.4(BTD):c.490_491del (p.Arg164Glyfs)	deletion	Pathogenic	587747	rs397514365	3:15685853-15685854	3:15644346-15644347
9	BTD	NM_000060.4(BTD):c.544del (p.Ser182Valfs)	deletion	Pathogenic	587748	rs397514368	3:15685907-15685907	3:15644400-15644400
10	BTD	NM_000060.4(BTD):c.594_596del (p.Val199del)	deletion	Pathogenic	587749	rs397514373	3:15685957-15685959	3:15644450-15644452
11	BTD	NM_000060.4(BTD):c.594del (p.Val199Cysfs)	deletion	Pathogenic	587754	rs397514374	3:15685957-15685957	3:15644450-15644450
12	BTD	NM_001370658.1(BTD):c.571del (p.Arg191fs)	deletion	Pathogenic	587719	rs1559599230	3:15685993-15685993	3:15644486-15644486
13	BTD	NM_001370658.1(BTD):c.586T>A (p.Tyr196Asn)	SNV	Pathogenic	587720	rs1559599267	3:15686009-15686009	3:15644502-15644502
14	BTD	NM_001370658.1(BTD):c.633del (p.Phe212fs)	deletion	Pathogenic	587721	rs1559599378	3:15686055-15686055	3:15644548-15644548
15	BTD	NM_001370658.1(BTD):c.635T>C (p.Phe212Ser)	SNV	Pathogenic	587722	rs768097543	3:15686058-15686058	3:15644551-15644551
16	BTD	NM_001370658.1(BTD):c.710T>A (p.Val237Asp)	SNV	Pathogenic	587723	rs1190721481	3:15686133-15686133	3:15644626-15644626
17	BTD	NM_001370658.1(BTD):c.723C>G (p.Tyr241Ter)	SNV	Pathogenic	587724	rs372687866	3:15686146-15686146	3:15644639-15644639
18	BTD	NM_001370658.1(BTD):c.776T>A (p.Leu259Ter)	SNV	Pathogenic	587726	rs397514390	3:15686199-15686199	3:15644692-15644692
19	BTD	NM_001370658.1(BTD):c.796A>G (p.Lys266Glu)	SNV	Pathogenic	587727	rs1559599682	3:15686219-15686219	3:15644712-15644712
20	BTD	NM_000060.4(BTD):c.1049del (p.Ala350Glufs)	deletion	Pathogenic	587742	rs397514397	3:15686412-15686412	3:15644905-15644905
21	BTD	NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs)	duplication	Pathogenic	587729	rs1004027979	3:15686458-15686459	3:15644951-15644952
22	BTD	NM_000060.4(BTD):c.1191_1192del (p.Glu397Aspfs)	deletion	Pathogenic	587743	rs397514403	3:15686554-15686555	3:15645047-15645048
23	BTD	NM_000060.4(BTD):c.1239del (p.Tyr414Ilefs)	deletion	Pathogenic	587745	rs397514407	3:15686602-15686602	3:15645095-15645095
24	BTD	NM_000060.4(BTD):c.1264dup (p.Leu422Profs)	duplication	Pathogenic	587744	rs397514411	3:15686627-15686627	3:15645120-15645120
25	BTD	NM_000060.4(BTD):c.1384del (p.Arg462Glyfs)	deletion	Pathogenic	587751	rs397514420	3:15686747-15686747	3:15645240-15645240
26	BTD	NM_001370658.1(BTD):c.1398del (p.Trp467fs)	deletion	Pathogenic	587736	rs1559600895	3:15686821-15686821	3:15645314-15645314
27	BTD	NM_001370658.1(BTD):c.1466C>G (p.Pro489Arg)	SNV	Pathogenic	587738	rs1559601041	3:15686889-15686889	3:15645382-15645382
28	BTD	NM_001370658.1(BTD):c.1497T>G (p.Tyr499Ter)	SNV	Pathogenic	587739	rs1559601106	3:15686920-15686920	3:15645413-15645413
29	BTD	NM_001370658.1(BTD):c.1568A>T (p.Asp523Val)	SNV	Pathogenic	587741	rs1050035768	3:15686991-15686991	3:15645484-15645484
30	BTD	NM_000060.3:c.*159G>A	SNV	Pathogenic	641134
31	BTD	NG_008019.2:g.5542del	deletion	Pathogenic	641018
32	BTD	NM_001370658.1(BTD):c.44_45del (p.Cys15fs)	deletion	Pathogenic	801942		3:15676989-15676990	3:15635482-15635483
33	BTD	NM_001370658.1(BTD):c.203del (p.Gln68fs)	deletion	Pathogenic	801943		3:15677149-15677149	3:15635642-15635642
34	BTD	NM_001370658.1(BTD):c.798del (p.Ala267fs)	deletion	Pathogenic	801947		3:15686219-15686219	3:15644712-15644712
35	BTD	NM_001370658.1(BTD):c.1465C>T (p.Pro489Ser)	SNV	Pathogenic	801948		3:15686888-15686888	3:15645381-15645381
36	BTD	NC_000003.12:g.(?_15601831)_(15601914_?)del	deletion	Pathogenic	833362		3:15643338-15643421
37	BTD	NM_000060.3:c.1085T>A	SNV	Pathogenic	844380
38	BTD	NM_000060.3:c.1410dup	duplication	Pathogenic	834119
39	BTD	NM_000060.3:c.1447G>T	SNV	Pathogenic	859384
40	BTD	NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)	indel	Pathogenic	1895	rs80338684	3:15676984-15676990	3:15635477-15635483
41	BTD	BTD, 15-BP DEL/11-BP INS	indel	Pathogenic	1896
42	BTD	NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)	SNV	Pathogenic	1897	rs104893688	3:15686958-15686958	3:15645451-15645451
43	BTD	NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)	SNV	Pathogenic	1898	rs80338686	3:15686975-15686975	3:15645468-15645468
44	BTD	NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)	SNV	Pathogenic	1901	rs28934601	3:15686118-15686118	3:15644611-15644611
45	BTD	NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	SNV	Pathogenic	1902	rs80338685	3:15686731-15686731	3:15645224-15645224
46	BTD	NM_001370658.1(BTD):c.100G>T (p.Glu34Ter)	SNV	Pathogenic	242759	rs397514338	3:15677046-15677046	3:15635539-15635539
47	BTD	NM_001370658.1(BTD):c.111T>G (p.Tyr37Ter)	SNV	Pathogenic	24978	rs397514339	3:15677057-15677057	3:15635550-15635550
48	BTD	NM_001370658.1(BTD):c.124G>T (p.Val42Leu)	SNV	Pathogenic	24979	rs397507170	3:15677070-15677070	3:15635563-15635563
49	BTD	NM_001370658.1(BTD):c.130G>A (p.Glu44Lys)	SNV	Pathogenic	24980	rs397514340	3:15677076-15677076	3:15635569-15635569
50	BTD	NM_001370658.1(BTD):c.134A>G (p.His45Arg)	SNV	Pathogenic	24982	rs397514341	3:15677080-15677080	3:15635573-15635573
51	BTD	NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)	SNV	Pathogenic	1905	rs104893687	3:15677121-15677121	3:15635614-15635614
52	BTD	NM_001370658.1(BTD):c.1097G>A (p.Trp366Ter)	SNV	Pathogenic	24841	rs397514401	3:15686520-15686520	3:15645013-15645013
53	BTD	NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser)	SNV	Pathogenic	25076	rs397514335	3:15686634-15686634	3:15645127-15645127
54	BTD	NM_001370658.1(BTD):c.76G>T (p.Glu26Ter)	SNV	Pathogenic	24976	rs397514336	3:15677022-15677022	3:15635515-15635515
55	BTD	NM_001370658.1(BTD):c.223C>T (p.Gln75Ter)	SNV	Pathogenic	242758	rs397514349	3:15677169-15677169	3:15635662-15635662
56	BTD	NM_001370658.1(BTD):c.238G>A (p.Ala80Thr)	SNV	Pathogenic	24995	rs397514350	3:15677184-15677184	3:15635677-15635677
57	BTD	NM_001370658.1(BTD):c.250G>T (p.Asp84Tyr)	SNV	Pathogenic	24996	rs397514351	3:15683415-15683415	3:15641908-15641908
58	BTD	NM_001370658.1(BTD):c.274G>A (p.Glu92Lys)	SNV	Pathogenic	24998	rs397514352	3:15683439-15683439	3:15641932-15641932
59	BTD	NM_001370658.1(BTD):c.322T>G (p.Phe108Val)	SNV	Pathogenic	25002	rs397514355	3:15683487-15683487	3:15641980-15641980
60	BTD	NM_001370658.1(BTD):c.385T>C (p.Phe129Leu)	SNV	Pathogenic	25007	rs397514359	3:15683550-15683550	3:15642043-15642043
61	BTD	NM_001370658.1(BTD):c.394A>C (p.Thr132Pro)	SNV	Pathogenic	25008	rs374681173	3:15683559-15683559	3:15642052-15642052
62	BTD	NM_001370658.1(BTD):c.202C>T (p.Gln68Ter)	SNV	Pathogenic	24992	rs151071780	3:15677148-15677148	3:15635641-15635641
63	BTD	NM_001370658.1(BTD):c.406C>T (p.Gln136Ter)	SNV	Pathogenic	25011	rs397514362	3:15685829-15685829	3:15644322-15644322
64	BTD	NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)	SNV	Pathogenic	25018	rs397514367	3:15685891-15685891	3:15644384-15644384
65	BTD	NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)	SNV	Pathogenic	25027	rs397514376	3:15685968-15685968	3:15644461-15644461
66	BTD	NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)	SNV	Pathogenic	25028	rs372844636	3:15685994-15685994	3:15644487-15644487
67	BTD	NM_001370658.1(BTD):c.524A>G (p.Asn175Ser)	SNV	Pathogenic	25022	rs397514371	3:15685947-15685947	3:15644440-15644440
68	BTD	NM_001370658.1(BTD):c.527C>G (p.Thr176Arg)	SNV	Pathogenic	25023	rs397514372	3:15685950-15685950	3:15644443-15644443
69	BTD	NM_001370658.1(BTD):c.583C>T (p.Leu195Phe)	SNV	Pathogenic	25031	rs190386869	3:15686006-15686006	3:15644499-15644499
70	BTD	NM_001370658.1(BTD):c.649G>A (p.Ala217Thr)	SNV	Pathogenic	25036	rs397514381	3:15686072-15686072	3:15644565-15644565
71	BTD	NM_001370658.1(BTD):c.592G>C (p.Glu198Gln)	SNV	Pathogenic	25033	rs397514378	3:15686015-15686015	3:15644508-15644508
72	BTD	NM_001370658.1(BTD):c.594G>C (p.Glu198Asp)	SNV	Pathogenic	25034	rs397514379	3:15686017-15686017	3:15644510-15644510
73	BTD	NM_001370658.1(BTD):c.734A>T (p.His245Leu)	SNV	Pathogenic	25041	rs397514385	3:15686157-15686157	3:15644650-15644650
74	BTD	NM_001370658.1(BTD):c.873T>G (p.Ser291Arg)	SNV	Pathogenic	25053	rs397514386	3:15686296-15686296	3:15644789-15644789
75	BTD	NM_001370658.1(BTD):c.772C>G (p.Leu258Val)	SNV	Pathogenic	25044	rs397514388	3:15686195-15686195	3:15644688-15644688
76	BTD	NM_001370658.1(BTD):c.776T>G (p.Leu259Trp)	SNV	Pathogenic	25046	rs397514390	3:15686199-15686199	3:15644692-15644692
77	BTD	NM_001370658.1(BTD):c.827T>G (p.Val276Gly)	SNV	Pathogenic	25048	rs397514391	3:15686250-15686250	3:15644743-15644743
78	BTD	NM_001370658.1(BTD):c.836C>T (p.Ala279Val)	SNV	Pathogenic	25049	rs397514392	3:15686259-15686259	3:15644752-15644752
79	BTD	NM_001370658.1(BTD):c.869G>A (p.Gly290Glu)	SNV	Pathogenic	25050	rs397514393	3:15686292-15686292	3:15644785-15644785
80	BTD	NM_001370658.1(BTD):c.872G>A (p.Ser291Asn)	SNV	Pathogenic	25051	rs397514394	3:15686295-15686295	3:15644788-15644788
81	BTD	NM_000060.2(BTD):c.1052delC (p.Thr351Lysfs)	deletion	Pathogenic	25057	rs397514398	3:15686415-15686415	3:15644908-15644908
82	BTD	NM_001370658.1(BTD):c.1036T>C (p.Ser346Pro)	SNV	Pathogenic	25058	rs397514399	3:15686459-15686459	3:15644952-15644952
83	BTD	NM_001370658.1(BTD):c.1274G>T (p.Gly425Val)	SNV	Pathogenic	25082	rs397514402	3:15686697-15686697	3:15645190-15645190
84	BTD	NM_001370658.1(BTD):c.1154T>C (p.Leu385Pro)	SNV	Pathogenic	25066	rs397514406	3:15686577-15686577	3:15645070-15645070
85	BTD	NM_001370658.1(BTD):c.1189G>T (p.Val397Phe)	SNV	Pathogenic	25070	rs397514409	3:15686612-15686612	3:15645105-15645105
86	BTD	NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser)	SNV	Pathogenic	25071	rs397514410	3:15686616-15686616	3:15645109-15645109
87	BTD	NM_001370658.1(BTD):c.1215T>G (p.Tyr405Ter)	SNV	Pathogenic	25077	rs397514414	3:15686638-15686638	3:15645131-15645131
88	BTD	NM_001370658.1(BTD):c.1224C>A (p.Tyr408Ter)	SNV	Pathogenic	25078	rs35145938	3:15686647-15686647	3:15645140-15645140
89	BTD	NM_001370658.1(BTD):c.1253A>G (p.Tyr418Cys)	SNV	Pathogenic	25079	rs397514415	3:15686676-15686676	3:15645169-15645169
90	BTD	NM_001370658.1(BTD):c.1208G>C (p.Cys403Ser)	SNV	Pathogenic	25074	rs397514413	3:15686631-15686631	3:15645124-15645124
91	BTD	NM_001370658.1(BTD):c.1273G>A (p.Gly425Arg)	SNV	Pathogenic	25081	rs397514417	3:15686696-15686696	3:15645189-15645189
92	BTD	NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp)	SNV	Pathogenic	25084	rs397514419	3:15686715-15686715	3:15645208-15645208
93	BTD	NM_001370658.1(BTD):c.1309G>A (p.Val437Met)	SNV	Pathogenic	25085	rs146600671	3:15686732-15686732	3:15645225-15645225
94	BTD	NM_001370658.1(BTD):c.1399T>C (p.Trp467Arg)	SNV	Pathogenic	25091	rs397514422	3:15686822-15686822	3:15645315-15645315
95	BTD	NM_001370658.1(BTD):c.1403G>A (p.Gly468Asp)	SNV	Pathogenic	25093	rs397514424	3:15686826-15686826	3:15645319-15645319
96	BTD	NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)	SNV	Pathogenic	25094	rs138818907	3:15686852-15686852	3:15645345-15645345
97	BTD	NM_001370658.1(BTD):c.1433dup (p.Leu478fs)	duplication	Pathogenic	587752	rs397514425	3:15686853-15686854	3:15645346-15645347
98	BTD	NM_001370658.1(BTD):c.1451T>A (p.Met484Lys)	SNV	Pathogenic	25096	rs397514426	3:15686874-15686874	3:15645367-15645367
99	BTD	NM_001370658.1(BTD):c.1550G>A (p.Gly517Glu)	SNV	Pathogenic	25098	rs397514428	3:15686973-15686973	3:15645466-15645466
100	BTD	NM_001370658.1(BTD):c.1553G>A (p.Arg518His)	SNV	Pathogenic	25099	rs397514429	3:15686976-15686976	3:15645469-15645469
101	BTD	NM_001370658.1(BTD):c.1556dup (p.Leu519fs)	duplication	Pathogenic	587753	rs397514430	3:15686977-15686978	3:15645470-15645471
102	BTD	NM_001370658.1(BTD):c.1567G>C (p.Asp523His)	SNV	Pathogenic	25102	rs397514432	3:15686990-15686990	3:15645483-15645483
103	BTD	NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)	SNV	Pathogenic	25103	rs146136265	3:15686992-15686992	3:15645485-15645485
104	BTD	NM_001370658.1(BTD):c.604G>C (p.Asp202His)	SNV	Pathogenic	25105	rs200337373	3:15686027-15686027	3:15644520-15644520
105	BTD	NM_001370658.1(BTD):c.941T>A (p.Ile314Asn)	SNV	Pathogenic	25106	rs397514433	3:15686364-15686364	3:15644857-15644857
106	BTD	NM_001370658.1(BTD):c.499C>T (p.Pro167Ser)	SNV	Pathogenic	38274	rs397507173	3:15685922-15685922	3:15644415-15644415
107	BTD	NM_001370658.1(BTD):c.266T>G (p.Val89Gly)	SNV	Pathogenic	38289	rs397507172	3:15683431-15683431	3:15641924-15641924
108	BTD	NM_001370658.1(BTD):c.410G>A (p.Arg137His)	SNV	Pathogenic	38290	rs146015592	3:15685833-15685833	3:15644326-15644326
109	BTD	NM_001370658.1(BTD):c.124G>A (p.Val42Met)	SNV	Pathogenic	38487	rs397507170	3:15677070-15677070	3:15635563-15635563
110	BTD	NM_001370658.1(BTD):c.805G>C (p.Ala269Pro)	SNV	Pathogenic	50884	rs397514334	3:15686228-15686228	3:15644721-15644721
111	BTD	NM_001370658.1(BTD):c.185C>A (p.Ala62Asp)	SNV	Pathogenic	38484	rs397507171	3:15677131-15677131	3:15635624-15635624
112	BTD	NM_000060.4(BTD):c.407dup (p.Val137Glyfs)	duplication	Pathogenic	38578	rs397514439	3:15683511-15683512	3:15642004-15642005
113	BTD	NM_001370658.1(BTD):c.132G>C (p.Glu44Asp)	SNV	Pathogenic	38574	rs397514436	3:15677078-15677078	3:15635571-15635571
114	BTD	NM_001370658.1(BTD):c.458T>G (p.Leu153Arg)	SNV	Pathogenic	38575	rs397514437	3:15685881-15685881	3:15644374-15644374
115	BTD	NM_001370658.1(BTD):c.698C>T (p.Pro233Leu)	SNV	Pathogenic	38576	rs397514438	3:15686121-15686121	3:15644614-15644614
116	BTD	NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs)	deletion	Pathogenic	92399	rs398123138	3:15686870-15686874	3:15645363-15645367
117	BTD	NM_001370658.1(BTD):c.197T>G (p.Met66Arg)	SNV	Pathogenic	156000	rs587783002	3:15677143-15677143	3:15635636-15635636
118	BTD	NM_001370658.1(BTD):c.623A>G (p.Asp208Gly)	SNV	Pathogenic	156002	rs587783004	3:15686046-15686046	3:15644539-15644539
119	BTD	NM_001370658.1(BTD):c.1312dup (p.Cys438fs)	duplication	Pathogenic	156005	rs587783007	3:15686734-15686735	3:15645227-15645228
120	BTD	NM_001370658.1(BTD):c.1350dup (p.Cys451fs)	duplication	Pathogenic	280333	rs886041559	3:15686771-15686772	3:15645264-15645265
121	BTD	NM_001370658.1(BTD):c.40_41del (p.Gly14fs)	deletion	Pathogenic	373906	rs765906887	3:15676986-15676987	3:15635479-15635480
122	BTD	NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)	deletion	Pathogenic/Likely pathogenic	38573	rs397514404	3:15686602-15686613	3:15645095-15645106
123	BTD	NM_001370658.1(BTD):c.134_137ATCC[4] (p.Leu49fs)	short repeat	Pathogenic/Likely pathogenic	189072	rs1205964567	3:15677078-15677079	3:15635571-15635572
124	BTD	NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)	indel	Pathogenic/Likely pathogenic	188805	rs672601248	3:15686590-15686604	3:15645083-15645097
125	BTD	NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)	SNV	Pathogenic/Likely pathogenic	156003	rs587783005	3:15686064-15686064	3:15644557-15644557
126	BTD	NM_001370658.1(BTD):c.566G>A (p.Arg189His)	SNV	Pathogenic/Likely pathogenic	92400	rs398123139	3:15685989-15685989	3:15644482-15644482
127	BTD	NM_001370658.1(BTD):c.1399del (p.Trp467fs)	deletion	Pathogenic/Likely pathogenic	25092	rs397514423	3:15686822-15686822	3:15645315-15645315
128	BTD	NM_000060.2(BTD):c.933delT (p.Ser311Argfs)	deletion	Pathogenic/Likely pathogenic	25052	rs397514395	3:15686296-15686296	3:15644789-15644789
129	BTD	NM_001370658.1(BTD):c.535G>A (p.Val179Met)	SNV	Pathogenic/Likely pathogenic	25026	rs397514375	3:15685958-15685958	3:15644451-15644451
130	BTD	NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)	SNV	Pathogenic/Likely pathogenic	25020	rs397514369	3:15685920-15685920	3:15644413-15644413
131	BTD	NM_001370658.1(BTD):c.399G>A (p.Glu133=)	SNV	Pathogenic/Likely pathogenic	25009	rs397514360	3:15683564-15683564	3:15642057-15642057
132	BTD	NM_001370658.1(BTD):c.281G>T (p.Gly94Val)	SNV	Pathogenic/Likely pathogenic	24999	rs375712490	3:15683446-15683446	3:15641939-15641939
133	BTD	NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	SNV	Pathogenic/Likely pathogenic	1900	rs13078881	3:15686693-15686693	3:15645186-15645186
134	BTD	NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs)	deletion	Pathogenic/Likely pathogenic	558367	rs1553654142	3:15686715-15686716	3:15645208-15645209
135	BTD	NM_001370658.1(BTD):c.835G>C (p.Ala279Pro)	SNV	Pathogenic/Likely pathogenic	439039	rs1157567876	3:15686258-15686258	3:15644751-15644751
136	BTD	NM_001370658.1(BTD):c.527del (p.Thr176fs)	deletion	Pathogenic/Likely pathogenic	528478	rs1553653680	3:15685950-15685950	3:15644443-15644443
137	BTD	NM_001370658.1(BTD):c.256C>T (p.Gln86Ter)	SNV	Likely pathogenic	554090	rs1553653062	3:15683421-15683421	3:15641914-15641914
138	BTD	NM_001370658.1(BTD):c.360G>A (p.Trp120Ter)	SNV	Likely pathogenic	556694	rs1306944669	3:15683525-15683525	3:15642018-15642018
139	BTD	NM_001370658.1(BTD):c.1396_1415del (p.Leu466fs)	deletion	Likely pathogenic	553988	rs1553654178	3:15686817-15686836	3:15645310-15645329
140	BTD	NM_001370658.1(BTD):c.932_941del (p.His311fs)	deletion	Likely pathogenic	551149	rs773137513	3:15686355-15686364	3:15644848-15644857
141	BTD	NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter)	SNV	Likely pathogenic	550894	rs747548016	3:15686448-15686448	3:15644941-15644941
142	BTD	NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs)	indel	Likely pathogenic	557291	rs1553653732	3:15686012-15686014	3:15644505-15644507
143	BTD	NM_001370658.1(BTD):c.1298dup (p.Tyr433Ter)	duplication	Likely pathogenic	552997	rs1553654145	3:15686720-15686721	3:15645213-15645214
144	BTD	NM_001370658.1(BTD):c.1401G>A (p.Trp467Ter)	SNV	Likely pathogenic	550262	rs1553654186	3:15686824-15686824	3:15645317-15645317
145	BTD	NM_001370658.1(BTD):c.1495dup (p.Tyr499fs)	duplication	Likely pathogenic	556836	rs1553654220	3:15686917-15686918	3:15645410-15645411
146	BTD	NM_001370658.1(BTD):c.-17_-17+3del	deletion	Likely pathogenic	552129	rs1050514843	3:15643400-15643403	3:15601893-15601896
147	BTD	NM_001370658.1(BTD):c.58_59del (p.Leu20fs)	deletion	Likely pathogenic	550208	rs1553652080	3:15677004-15677005	3:15635497-15635498
148	BTD	NM_001370658.1(BTD):c.1400G>A (p.Trp467Ter)	SNV	Likely pathogenic	556295	rs1277029090	3:15686823-15686823	3:15645316-15645316
149	BTD	NM_001370658.1(BTD):c.250-1G>T	SNV	Likely pathogenic	551671	rs1553653053	3:15683414-15683414	3:15641907-15641907
150	BTD	NM_001370658.1(BTD):c.941_942del (p.Ile314fs)	deletion	Likely pathogenic	553614	rs749162799	3:15686364-15686365	3:15644857-15644858
151	BTD	NM_001370658.1(BTD):c.419G>T (p.Cys140Phe)	SNV	Likely pathogenic	571821	rs745343884	3:15685842-15685842	3:15644335-15644335
152	BTD	NM_001370658.1(BTD):c.368G>T (p.Cys123Phe)	SNV	Likely pathogenic	587712	rs1336386457	3:15683533-15683533	3:15642026-15642026
153	BTD	NM_001370658.1(BTD):c.1268T>C (p.Phe423Ser)	SNV	Likely pathogenic	587733	rs1559600573	3:15686691-15686691	3:15645184-15645184
154	BTD	NM_001370658.1(BTD):c.274G>C (p.Glu92Gln)	SNV	Likely pathogenic	24997	rs397514352	3:15683439-15683439	3:15641932-15641932
155	BTD	NM_001370658.1(BTD):c.528_542del (p.Val178_Asn182del)	deletion	Likely pathogenic	830047		3:15685951-15685965	3:15644444-15644458
156	BTD	NM_001370658.1(BTD):c.262A>G (p.Ile88Val)	SNV	Likely pathogenic	801944		3:15683427-15683427	3:15641920-15641920
157	BTD	NM_001370658.1(BTD):c.496T>G (p.Cys166Gly)	SNV	Likely pathogenic	801945		3:15685919-15685919	3:15644412-15644412
158	BTD	NM_001370658.1(BTD):c.705C>G (p.Ile235Met)	SNV	Likely pathogenic	801946		3:15686128-15686128	3:15644621-15644621
159	BTD	NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly)	SNV	Likely pathogenic	800903		3:15686991-15686991	3:15645484-15645484
160	BTD	NM_001370658.1(BTD):c.577del (p.His193fs)	deletion	Likely pathogenic	590811	rs780874850	3:15686000-15686000	3:15644493-15644493
161	BTD	NM_001370658.1(BTD):c.364C>A (p.Pro122Thr)	SNV	Likely pathogenic	25004	rs397514357	3:15683529-15683529	3:15642022-15642022
162	BTD	NM_001370658.1(BTD):c.383G>A (p.Arg128His)	SNV	Likely pathogenic	25005	rs367902696	3:15683548-15683548	3:15642041-15642041
163	BTD	NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)	SNV	Likely pathogenic	25012	rs397514363	3:15685832-15685832	3:15644325-15644325
164	BTD	NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)	SNV	Likely pathogenic	24993	rs397514348	3:15677164-15677164	3:15635657-15635657
165	BTD	NM_001370658.1(BTD):c.1279C>T (p.His427Tyr)	SNV	Likely pathogenic	25083	rs397514418	3:15686702-15686702	3:15645195-15645195
166	BTD	NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr)	SNV	Likely pathogenic	25075	rs397514335	3:15686634-15686634	3:15645127-15645127
167	BTD	NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter)	SNV	Likely pathogenic	25080	rs397514416	3:15686677-15686677	3:15645170-15645170
168	BTD	NM_001370658.1(BTD):c.1334dup (p.Leu446fs)	duplication	Likely pathogenic	38580	rs397514440	3:15686752-15686753	3:15645245-15645246
169	BTD	NM_001370658.1(BTD):c.838A>C (p.Asn280His)	SNV	Likely pathogenic	156004	rs587783006	3:15686261-15686261	3:15644754-15644754
170	BTD	NM_001370658.1(BTD):c.395C>G (p.Thr132Arg)	SNV	Likely pathogenic	156001	rs587783003	3:15683560-15683560	3:15642053-15642053
171	BTD	NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)	SNV	Likely pathogenic	38569	rs397514434	3:15686521-15686521	3:15645014-15645014
172	BTD	NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)	SNV	Likely pathogenic	38275	rs397507174	3:15685992-15685992	3:15644485-15644485
173	BTD	NM_001370658.1(BTD):c.-18A>T	SNV	Likely pathogenic	371272	rs143058480	3:15643400-15643400	3:15601893-15601893
174	BTD	NM_001370658.1(BTD):c.-17+1G>A	SNV	Likely pathogenic	370376	rs1057516440	3:15643402-15643402	3:15601895-15601895
175	BTD	NM_001370658.1(BTD):c.-17+1G>C	SNV	Likely pathogenic	370391	rs1057516440	3:15643402-15643402	3:15601895-15601895
176	BTD	NM_001370658.1(BTD):c.-17+1G>T	SNV	Likely pathogenic	370613	rs1057516440	3:15643402-15643402	3:15601895-15601895
177	BTD	NM_001370658.1(BTD):c.-17+1del	deletion	Likely pathogenic	371236	rs1057517114	3:15643401-15643401	3:15601894-15601894
178	BTD	NM_001370658.1(BTD):c.47dup (p.Tyr16Ter)	duplication	Likely pathogenic	370847	rs1057516812	3:15676992-15676993	3:15635485-15635486
179	BTD	NM_001370658.1(BTD):c.249+1G>T	SNV	Likely pathogenic	370921	rs373249212	3:15677196-15677196	3:15635689-15635689
180	BTD	NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs)	duplication	Likely pathogenic	370087	rs1057516223	3:15683476-15683477	3:15641969-15641970
181	BTD	NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter)	SNV	Likely pathogenic	370125	rs1057516252	3:15686492-15686492	3:15644985-15644985
182	BTD	NM_001370658.1(BTD):c.1110_1111dup (p.Pro371fs)	duplication	Likely pathogenic	371418	rs1057517256	3:15686531-15686532	3:15645024-15645025
183	BTD	NM_001370658.1(BTD):c.1245_1246AG[1] (p.Glu416fs)	short repeat	Likely pathogenic	371377	rs1057517225	3:15686668-15686669	3:15645161-15645162
184	BTD	NM_001370658.1(BTD):c.1264del (p.Val422fs)	deletion	Likely pathogenic	371553	rs1057517362	3:15686683-15686683	3:15645176-15645176
185	BTD	NM_001370658.1(BTD):c.382C>T (p.Arg128Cys)	SNV	Likely pathogenic	373539	rs137877018	3:15683547-15683547	3:15642040-15642040
186	BTD	NM_001370658.1(BTD):c.604G>A (p.Asp202Asn)	SNV	Conflicting interpretations of pathogenicity	381650	rs200337373	3:15686027-15686027	3:15644520-15644520
187	BTD	NM_001370658.1(BTD):c.806C>T (p.Ala269Val)	SNV	Conflicting interpretations of pathogenicity	379232	rs1057520533	3:15686229-15686229	3:15644722-15644722
188	BTD	NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)	SNV	Conflicting interpretations of pathogenicity	38281	rs397507175	3:15686097-15686097	3:15644590-15644590
189	BTD	NM_001370658.1(BTD):c.152T>C (p.Leu51Pro)	SNV	Conflicting interpretations of pathogenicity	38482	rs397514333	3:15677098-15677098	3:15635591-15635591
190	BTD	NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser)	SNV	Conflicting interpretations of pathogenicity	38577	rs374141881	3:15686600-15686600	3:15645093-15645093
191	BTD	NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile)	SNV	Conflicting interpretations of pathogenicity	25065	rs397514405	3:15686574-15686574	3:15645067-15645067
192	BTD	NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)	SNV	Conflicting interpretations of pathogenicity	25108	rs181396238	3:15686795-15686795	3:15645288-15645288
193	BTD	NM_001370658.1(BTD):c.339G>A (p.Pro113=)	SNV	Conflicting interpretations of pathogenicity	196203	rs181743799	3:15683504-15683504	3:15641997-15641997
194	BTD	NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)	SNV	Conflicting interpretations of pathogenicity	203642	rs80338686	3:15686975-15686975	3:15645468-15645468
195	BTD	NM_001370658.1(BTD):c.1041C>T (p.Gly347=)	SNV	Conflicting interpretations of pathogenicity	282920	rs142421934	3:15686464-15686464	3:15644957-15644957
196	BTD	NM_000060.3(BTD):c.310-15delT	deletion	Conflicting interpretations of pathogenicity	156006	rs587783008	3:15683400-15683400	3:15641893-15641893
197	BTD	NM_001370658.1(BTD):c.201C>T (p.Asn67=)	SNV	Conflicting interpretations of pathogenicity	290069	rs147057169	3:15677147-15677147	3:15635640-15635640
198	BTD	NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro)	SNV	Conflicting interpretations of pathogenicity	25089	rs181396238	3:15686795-15686795	3:15645288-15645288
199	BTD	NM_001370658.1(BTD):c.1395C>G (p.His465Gln)	SNV	Conflicting interpretations of pathogenicity	25090	rs201604102	3:15686818-15686818	3:15645311-15645311
200	BTD	NM_001370658.1(BTD):c.820A>G (p.Ile274Val)	SNV	Conflicting interpretations of pathogenicity	25047	rs35976361	3:15686243-15686243	3:15644736-15644736
201	BTD	NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)	SNV	Conflicting interpretations of pathogenicity	25073	rs397514412	3:15686630-15686630	3:15645123-15645123
202	BTD	NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg)	SNV	Conflicting interpretations of pathogenicity	25069	rs397514408	3:15686615-15686615	3:15645108-15645108
203	BTD	NM_001370658.1(BTD):c.523A>G (p.Asn175Asp)	SNV	Conflicting interpretations of pathogenicity	25021	rs397514370	3:15685946-15685946	3:15644439-15644439
204	BTD	NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)	SNV	Conflicting interpretations of pathogenicity	38298	rs13073139	3:15685874-15685874	3:15644367-15644367
205	BTD	NM_001370658.1(BTD):c.400-8dup	duplication	Conflicting interpretations of pathogenicity	25010	rs397514361	3:15685808-15685809	3:15644301-15644302
206	BTD	NM_001370658.1(BTD):c.585C>T (p.Leu195=)	SNV	Conflicting interpretations of pathogenicity	25032	rs145388314	3:15686008-15686008	3:15644501-15644501
207	BTD	NM_001370658.1(BTD):c.572G>A (p.Arg191His)	SNV	Conflicting interpretations of pathogenicity	25029	rs112195009	3:15685995-15685995	3:15644488-15644488
208	BTD	NM_001370658.1(BTD):c.754T>G (p.Trp252Gly)	SNV	Conflicting interpretations of pathogenicity	25043	rs397514387	3:15686177-15686177	3:15644670-15644670
209	BTD	NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)	SNV	Conflicting interpretations of pathogenicity	25035	rs397514380	3:15686045-15686045	3:15644538-15644538
210	BTD	NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)	SNV	Conflicting interpretations of pathogenicity	25037	rs397514382	3:15686106-15686106	3:15644599-15644599
211	BTD	NM_001370658.1(BTD):c.41_44del (p.Gly14fs)	deletion	Conflicting interpretations of pathogenicity	631911	rs1249246307	3:15676986-15676989	3:15635479-15635482
212	BTD	NM_001370658.1(BTD):c.296A>G (p.Asn99Ser)	SNV	Conflicting interpretations of pathogenicity	25000	rs397514353	3:15683461-15683461	3:15641954-15641954
213	BTD	NM_001370658.1(BTD):c.185C>T (p.Ala62Val)	SNV	Conflicting interpretations of pathogenicity	24989	rs397507171	3:15677131-15677131	3:15635624-15635624
214	BTD	NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)	SNV	Conflicting interpretations of pathogenicity, other	143949	rs104893686	3:15686570-15686570	3:15645063-15645063
215	BTD	NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)	SNV	Conflicting interpretations of pathogenicity	24973	rs34885143	3:15677019-15677019	3:15635512-15635512
216	BTD	NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)	SNV	Conflicting interpretations of pathogenicity	587716	rs750363004	3:15685945-15685945	3:15644438-15644438
217	BTD	NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)	SNV	Conflicting interpretations of pathogenicity	1899	rs119103232	3:15676986-15676986	3:15635479-15635479
218	BTD	NM_001370658.1(BTD):c.1249C>G (p.Leu417Val)	SNV	Conflicting interpretations of pathogenicity	558593	rs1553654107	3:15686672-15686672	3:15645165-15645165
219	BTD	NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu)	SNV	Conflicting interpretations of pathogenicity	556288	rs397514402	3:15686697-15686697	3:15645190-15645190
220	BTD	NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys)	SNV	Conflicting interpretations of pathogenicity	554671	rs750598655	3:15686844-15686844	3:15645337-15645337
221	BTD	NM_001370658.1(BTD):c.239C>T (p.Ala80Val)	SNV	Conflicting interpretations of pathogenicity	557611	rs1553652171	3:15677185-15677185	3:15635678-15635678
222	BTD	NM_001370658.1(BTD):c.261T>G (p.Ile87Met)	SNV	Conflicting interpretations of pathogenicity	556687	rs1024847163	3:15683426-15683426	3:15641919-15641919
223	BTD	NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys)	SNV	Conflicting interpretations of pathogenicity	422496	rs749460715	3:15686669-15686669	3:15645162-15645162
224	BTD	NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys)	SNV	Conflicting interpretations of pathogenicity	418710	rs746099217	3:15686756-15686756	3:15645249-15645249
225	BTD	NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)	SNV	Conflicting interpretations of pathogenicity	458809	rs369102875	3:15685988-15685988	3:15644481-15644481
226	BTD	NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)	SNV	Conflicting interpretations of pathogenicity	458806	rs397514345	3:15686724-15686724	3:15645217-15645217
227	BTD	NM_001370658.1(BTD):c.481A>G (p.Ser161Gly)	SNV	Uncertain significance	458807	rs541012569	3:15685904-15685904	3:15644397-15644397
228	BTD	NM_001370658.1(BTD):c.817G>C (p.Gly273Arg)	SNV	Uncertain significance	429412	rs762757117	3:15686240-15686240	3:15644733-15644733
229	BTD	NM_001370658.1(BTD):c.545A>G (p.Asn182Ser)	SNV	Uncertain significance	458808	rs397514376	3:15685968-15685968	3:15644461-15644461
230	BTD	NM_001370658.1(BTD):c.721_723del (p.Tyr241del)	deletion	Uncertain significance	551326	rs1553653835	3:15686142-15686144	3:15644635-15644637
231	BTD	NM_001370658.1(BTD):c.795G>C (p.Gln265His)	SNV	Uncertain significance	554943	rs1553653855	3:15686218-15686218	3:15644711-15644711
232	BTD	NM_001370658.1(BTD):c.862A>C (p.Met288Leu)	SNV	Uncertain significance	550822	rs757604137	3:15686285-15686285	3:15644778-15644778
233	BTD	NM_001370658.1(BTD):c.881A>G (p.His294Arg)	SNV	Uncertain significance	555546	rs1553653888	3:15686304-15686304	3:15644797-15644797
234	BTD	NM_001370658.1(BTD):c.-59T>A	SNV	Uncertain significance	552501	rs768258310	3:15643359-15643359	3:15601852-15601852
235	BTD	NM_001370658.1(BTD):c.-59T>C	SNV	Uncertain significance	558577	rs768258310	3:15643359-15643359	3:15601852-15601852
236	BTD	NM_001370658.1(BTD):c.1503del (p.Arg502fs)	deletion	Uncertain significance	553282	rs1163419871	3:15686926-15686926	3:15645419-15645419
237	BTD	NM_001370658.1(BTD):c.*159G>A	SNV	Uncertain significance	555845	rs530872564	3:15687154-15687154	3:15645647-15645647
238	BTD	NM_001370658.1(BTD):c.1309G>T (p.Val437Leu)	SNV	Uncertain significance	550861	rs146600671	3:15686732-15686732	3:15645225-15645225
239	BTD	NM_001370658.1(BTD):c.557_559TTG[1] (p.Val187del)	short repeat	Uncertain significance	558727	rs1553653699	3:15685980-15685982	3:15644473-15644475
240	BTD	NM_001370658.1(BTD):c.886C>A (p.Pro296Thr)	SNV	Uncertain significance	554651	rs1553653894	3:15686309-15686309	3:15644802-15644802
241	BTD	NM_001370658.1(BTD):c.-74G>A	SNV	Uncertain significance	550283	rs200884349	3:15643344-15643344	3:15601837-15601837
242	BTD	NM_001370658.1(BTD):c.-58G>A	SNV	Uncertain significance	555087	rs1553646827	3:15643360-15643360	3:15601853-15601853
243	BTD	NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu)	SNV	Uncertain significance	550185	rs558477960	3:15686802-15686802	3:15645295-15645295
244	BTD	NM_001370658.1(BTD):c.-60A>G	SNV	Uncertain significance	558675	rs1553646820	3:15643358-15643358	3:15601851-15601851
245	BTD	NM_001370658.1(BTD):c.506A>G (p.Asp169Gly)	SNV	Uncertain significance	587715	rs139829181	3:15685929-15685929	3:15644422-15644422
246	BTD	NM_001370658.1(BTD):c.755G>A (p.Trp252Ter)	SNV	Uncertain significance	587725	rs148031701	3:15686178-15686178	3:15644671-15644671
247	BTD	NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)	SNV	Uncertain significance	1903	rs104893692	3:15686829-15686829	3:15645322-15645322
248	BTD	NM_001370658.1(BTD):c.188T>C (p.Leu63Ser)	SNV	Uncertain significance	24991	rs397514347	3:15677134-15677134	3:15635627-15635627
249	BTD	NM_001370658.1(BTD):c.304A>G (p.Arg102Gly)	SNV	Uncertain significance	25001	rs397514354	3:15683469-15683469	3:15641962-15641962
250	BTD	NM_000060.3:c.1102G>A	SNV	Uncertain significance	664167
251	BTD	NM_000060.3:c.1136A>G	SNV	Uncertain significance	662196
252	BTD		deletion	Uncertain significance	651913
253	BTD	NM_001370658.1(BTD):c.38G>T (p.Cys13Phe)	SNV	Uncertain significance	801941		3:15676984-15676984	3:15635477-15635477
254	BTD	NM_000060.3:c.1394G>T	SNV	Uncertain significance	641268
255	BTD	NM_000060.3:c.1596G>A	SNV	Uncertain significance	647364
256	BTD	NM_000060.3:c.239A>C	SNV	Uncertain significance	657685
257	BTD	NM_000060.3:c.1324G>A	SNV	Uncertain significance	835969
258	BTD	NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)	SNV	Uncertain significance	25039	rs397514383	3:15686120-15686120	3:15644613-15644613
259	BTD	NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)	SNV	Uncertain significance	25040	rs397514384	3:15686127-15686127	3:15644620-15644620
260	BTD	NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)	SNV	Uncertain significance	38579	rs397514377	3:15686004-15686004	3:15644497-15644497
261	BTD	NM_001370658.1(BTD):c.455A>G (p.Asn152Ser)	SNV	Uncertain significance	25017	rs397514366	3:15685878-15685878	3:15644371-15644371
262	BTD	NM_001370658.1(BTD):c.425C>T (p.Ala142Val)	SNV	Uncertain significance	25014	rs397514364	3:15685848-15685848	3:15644341-15644341
263	BTD	NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)	SNV	Uncertain significance	25062	rs201023772	3:15686568-15686568	3:15645061-15645061
264	BTD	NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu)	SNV	Uncertain significance	25059	rs397514400	3:15686469-15686469	3:15644962-15644962
265	BTD	NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)	SNV	Uncertain significance	25045	rs397514389	3:15686196-15686196	3:15644689-15644689
266	BTD	NM_001370658.1(BTD):c.874G>A (p.Gly292Ser)	SNV	Uncertain significance	25054	rs397514396	3:15686297-15686297	3:15644790-15644790
267	BTD	NM_001370658.1(BTD):c.875G>A (p.Gly292Asp)	SNV	Uncertain significance	25055	rs377651057	3:15686298-15686298	3:15644791-15644791
268	BTD	NM_001370658.1(BTD):c.1328G>A (p.Cys443Tyr)	SNV	Uncertain significance	25087	rs397514421	3:15686751-15686751	3:15645244-15645244
269	BTD	NM_001370658.1(BTD):c.-148C>T	SNV	Uncertain significance	343901	rs774964227	3:15643270-15643270	3:15601763-15601763
270	BTD	NM_001370658.1(BTD):c.-105C>T	SNV	Uncertain significance	343902	rs184480128	3:15643313-15643313	3:15601806-15601806
271	BTD	NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala)	SNV	Uncertain significance	343909	rs886058115	3:15686466-15686466	3:15644959-15644959
272	BTD	NM_001370658.1(BTD):c.1427T>C (p.Phe476Ser)	SNV	Uncertain significance	343914	rs886058117	3:15686850-15686850	3:15645343-15645343
273	BTD	NM_001370658.1(BTD):c.*57T>A	SNV	Uncertain significance	343915	rs886058118	3:15687052-15687052	3:15645545-15645545
274	BTD	NM_001370658.1(BTD):c.*211G>A	SNV	Uncertain significance	343916	rs78601074	3:15687206-15687206	3:15645699-15645699
275	BTD	NM_001370658.1(BTD):c.48C>T (p.Tyr16=)	SNV	Uncertain significance	343905	rs201823743	3:15676994-15676994	3:15635487-15635487
276	BTD	NM_001370658.1(BTD):c.847C>T (p.His283Tyr)	SNV	Uncertain significance	343908	rs144084212	3:15686270-15686270	3:15644763-15644763
277	BTD	NM_001370658.1(BTD):c.1225G>A (p.Glu409Lys)	SNV	Uncertain significance	343912	rs770633850	3:15686648-15686648	3:15645141-15645141
278	BTD	NM_001370658.1(BTD):c.-87G>T	SNV	Uncertain significance	343903	rs755119589	3:15643331-15643331	3:15601824-15601824
279	BTD	NM_001370658.1(BTD):c.-65G>T	SNV	Uncertain significance	343904	rs199516128	3:15643353-15643353	3:15601846-15601846
280	BTD	NM_001370658.1(BTD):c.136C>A (p.Pro46Thr)	SNV	Uncertain significance	343906	rs778785164	3:15677082-15677082	3:15635575-15635575
281	BTD	NM_001370658.1(BTD):c.140C>G (p.Ser47Cys)	SNV	Uncertain significance	343907	rs747489101	3:15677086-15677086	3:15635579-15635579
282	BTD	NM_001370658.1(BTD):c.1112C>T (p.Pro371Leu)	SNV	Uncertain significance	343910	rs375239909	3:15686535-15686535	3:15645028-15645028
283	BTD	NM_001370658.1(BTD):c.1114C>T (p.Pro372Ser)	SNV	Uncertain significance	343911	rs886058116	3:15686537-15686537	3:15645030-15645030
284	BTD	NM_001370658.1(BTD):c.1425C>A (p.Ile475=)	SNV	Uncertain significance	343913	rs780182371	3:15686848-15686848	3:15645341-15645341
285	BTD	NM_001370658.1(BTD):c.908A>G (p.His303Arg)	SNV	Uncertain significance	38278	rs397507176	3:15686331-15686331	3:15644824-15644824
286	BTD	NM_001370658.1(BTD):c.986A>C (p.Asn329Thr)	SNV	Uncertain significance	25107	rs200327983	3:15686409-15686409	3:15644902-15644902
287	BTD	NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys)	SNV	Uncertain significance	25101	rs397514431	3:15686982-15686982	3:15645475-15645475
288	BTD	NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)	SNV	Uncertain significance	25097	rs397514427	3:15686894-15686894	3:15645387-15645387
289	BTD	NM_001370658.1(BTD):c.176G>A (p.Arg59His)	SNV	Uncertain significance	38567	rs397514343	3:15677122-15677122	3:15635615-15635615
290	BTD	NM_001370658.1(BTD):c.68A>G (p.His23Arg)	SNV	Uncertain significance	38483	rs146011150	3:15677014-15677014	3:15635507-15635507
291	BTD	NM_000060.3:c.1074T>C	SNV	Likely benign	702558
292	BTD	NM_000060.3:c.705C>A	SNV	Likely benign	706699
293	BTD	NM_000060.3:c.312T>C	SNV	Likely benign	723988
294	BTD	NM_000060.3:c.663C>T	SNV	Likely benign	721568
295	BTD	NM_000060.3:c.1032C>T	SNV	Likely benign	743074
296	BTD	NM_000060.3:c.1057G>A	SNV	Likely benign	742653
297	BTD	NM_000060.3:c.1248C>T	SNV	Likely benign	744694
298	BTD	NM_000060.3:c.1422A>G	SNV	Likely benign	750596
299	BTD	NM_000060.3:c.1588C>G	SNV	Likely benign	746480
300	BTD	NM_000060.3:c.1152C>T	SNV	Likely benign	766265
301	BTD	NM_000060.3:c.1404C>T	SNV	Likely benign	766098
302	BTD	NM_000060.3:c.1161C>T	SNV	Likely benign	794847
303	BTD	NM_001370658.1(BTD):c.39C>T (p.Cys13=)	SNV	Likely benign	24972	rs201564216	3:15676985-15676985	3:15635478-15635478
304	BTD	NM_001370658.1(BTD):c.1456C>T (p.Leu486=)	SNV	Likely benign	528479	rs774018881	3:15686879-15686879	3:15645372-15645372
305	BTD	NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)	SNV	Benign/Likely benign	38570	rs35034250	3:15686534-15686534	3:15645027-15645027
306	BTD	NM_001370658.1(BTD):c.-94C>T	SNV	Benign/Likely benign	25104	rs114567021	3:15643324-15643324	3:15601817-15601817
307	BTD	NM_001370658.1(BTD):c.1002G>A (p.Thr334=)	SNV	Benign/Likely benign	286364	rs148764524	3:15686425-15686425	3:15644918-15644918
308	BTD	NM_001370658.1(BTD):c.1224C>T (p.Tyr408=)	SNV	Benign/Likely benign	38593	rs35145938	3:15686647-15686647	3:15645140-15645140
309	BTD	NM_001370658.1(BTD):c.1353T>C (p.Cys451=)	SNV	Benign	25088	rs3817641	3:15686776-15686776	3:15645269-15645269
310	BTD	NM_001370658.1(BTD):c.384C>A (p.Arg128=)	SNV	Benign	25006	rs397514358	3:15683549-15683549	3:15642042-15642042
311	BTD	NM_001370658.1(BTD):c.142A>G (p.Ile48Val)	SNV	Benign	528480	rs114092911	3:15677088-15677088	3:15635581-15635581
312	BTD	NM_001370658.1(BTD):c.151C>T (p.Leu51=)	SNV	Benign	24983	rs397514342	3:15677097-15677097	3:15635590-15635590
313	BTD	NM_001370658.1(BTD):c.174C>T (p.Ser58=)	SNV	Benign	24985	rs397514344	3:15677120-15677120	3:15635613-15635613
314	BTD	NM_000060.3:c.262C>G	SNV	Benign	706158
315	BTD	NM_001370658.1(BTD):c.1301A>C (p.Tyr434Ser)	SNV	no interpretation for the single variant	24987	rs397514345	3:15686724-15686724	3:15645217-15645217
316	BTD	NM_001370658.1(BTD):c.99C>A (p.His33Gln)	SNV	no interpretation for the single variant	242760	rs397514337	3:15677045-15677045	3:15635538-15635538

UniProtKB/Swiss-Prot genetic disease variations for Biotinidase Deficiency:

⁷³ (showing 9, show less)

#	Symbol	AA change	Variation ID	SNP ID
1	BTD	p.Phe128Val	VAR_005113	rs397514355
2	BTD	p.Ala171Thr	VAR_005114	rs13073139
3	BTD	p.Asp228Tyr	VAR_005115	rs397514380
4	BTD	p.His323Arg	VAR_005116	rs397507176
5	BTD	p.Asp444His	VAR_005117	rs13078881
6	BTD	p.Gly451Asp	VAR_005118	rs397514419
7	BTD	p.Gln456His	VAR_005119	rs80338685
8	BTD	p.Thr532Met	VAR_005120	rs104893688
9	BTD	p.Arg538Cys	VAR_005121	rs80338686

Sources

Expression for Biotinidase Deficiency

Search GEO for disease gene expression data for Biotinidase Deficiency.

Sources

Pathways for Biotinidase Deficiency

Pathways related to Biotinidase Deficiency according to KEGG:

³⁶ (showing 2, show less)

#	Name	Kegg Source Accession
1	Biotin metabolism	hsa00780
2	Vitamin digestion and absorption	hsa04977

Pathways related to Biotinidase Deficiency according to GeneCards Suite gene sharing:

(showing 13, show less)

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁵ Show member pathways Metabolic pathways ³⁶ Metabolism of lipids and lipoproteins ⁶⁵	13.45	VNN2 SUOX SLC5A6 PNPO PCCB PC
2	Carbon metabolism ³⁶ Show member pathways 2-Oxocarboxylic acid metabolism ³⁶ Biosynthesis of amino acids ³⁶ formaldehyde oxidation ¹	11.88	PCCB PC PAH HIBCH ACADS
3	Metabolism of water-soluble vitamins and cofactors ⁶⁵ Show member pathways [2Fe-2S] iron-sulfur cluster biosynthesis ¹ Biotin transport and metabolism ⁶⁵ biotin-carboxyl carrier protein assembly ¹ coenzyme A biosynthesis ¹ Coenzyme A biosynthesis ⁶⁵ flavin biosynthesis ¹ folate polyglutamylation ¹ glycine/serine biosynthesis ¹ Metabolism of folate and pterines ⁶⁵ Metabolism of vitamins and cofactors ⁶⁵ molybdenum cofactor biosynthesis ¹ Molybdenum cofactor biosynthesis ⁶⁵ thiamin salvage III ¹ thio-molybdenum cofactor biosynthesis ¹ Vitamin B1 (thiamin) metabolism ⁶⁵ Vitamin B2 (riboflavin) metabolism ⁶⁵ Vitamin B5 (pantothenate) metabolism ⁶⁵ Vitamin C (ascorbate) metabolism ⁶⁵ Vitamins B6 activation to pyridoxal phosphate ⁶⁵	11.88	VNN2 SLC5A6 PNPO PCCB PC MOCS1
4	Valine, leucine and isoleucine degradation ³⁶ Show member pathways 4-aminobutyrate degradation ¹ beta-alanine degradation ¹ Branched-chain amino acid catabolism ⁶⁵ Carnitine synthesis ⁶⁵ isoleucine degradation ¹ L-carnitine biosynthesis ¹ leucine degradation ¹ valine degradation ¹	11.63	PCCB HIBCH HADH ACADS
5	Amino Acid metabolism ¹	11.61	PC HIBCH HADH
6	Mitochondrial Fatty Acid Beta-Oxidation ⁶⁵ Show member pathways Beta oxidation of butanoyl-CoA to acetyl-CoA ⁶⁵ Beta oxidation of hexanoyl-CoA to butanoyl-CoA ⁶⁵ Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA ⁶⁵ Beta oxidation of myristoyl-CoA to lauroyl-CoA ⁶⁵ Beta oxidation of palmitoyl-CoA to myristoyl-CoA ⁶⁵ mitochondrial fatty acid beta-oxidation of saturated fatty acids ⁶⁵ mitochondrial fatty acid beta-oxidation of unsaturated fatty acids ⁶⁵ Propionyl-CoA catabolism ⁶⁵ propionyl-CoA degradation ¹	11.43	PCCB HADH ACADS
7	Mitochondrial LC-Fatty Acid Beta-Oxidation ¹ Show member pathways Fatty Acid Beta Oxidation ¹ fatty acid beta-oxidation (unsaturated, odd number) ¹	11.3	LPL HADH ACADS
8	Propanoate metabolism ³⁶	11.03	PCCB HIBCH ACADS
9	Folate biosynthesis ³⁶ Show member pathways phenylalanine degradation/tyrosine biosynthesis ¹	10.99	PAH MOCS1
10	Vitamin digestion and absorption ³⁶	10.89	SLC5A6 BTD
11	Fatty Acid Biosynthesis (WikiPathways) ¹	10.84	PC HADH
12	Defective HLCS causes multiple carboxylase deficiency ⁶⁵ Show member pathways Defects in biotin (Btn) metabolism ⁶⁵	10.54	PCCB PC
13	Biotin metabolism ³⁶	9.85	HLCS BTD

Sources

GO Terms for Biotinidase Deficiency

Cellular components related to Biotinidase Deficiency according to GeneCards Suite gene sharing:

(showing 2, show less)

#	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrion	GO:0005739	9.56	SUOX POLG PCCB PC HLCS HIBCH
2	mitochondrial matrix	GO:0005759	9.17	SUOX PCCB PC HIBCH HADH BTD

Biological processes related to Biotinidase Deficiency according to GeneCards Suite gene sharing:

(showing 4, show less)

#	Name	GO ID	Score	Top Affiliating Genes
1	oxidation-reduction process	GO:0055114	9.65	SUOX PNPO PAH HADH ACADS
2	nitrogen compound metabolic process	GO:0006807	9.16	VNN2 BTD
3	biotin metabolic process	GO:0006768	9.02	SLC5A6 PCCB PC HLCS BTD
4	pantothenate metabolic process	GO:0015939	8.96	VNN2 SLC5A6

Molecular functions related to Biotinidase Deficiency according to GeneCards Suite gene sharing:

(showing 4, show less)

#	Name	GO ID	Score	Top Affiliating Genes
1	ligase activity	GO:0016874	9.43	PCCB PC HLCS
2	oxidoreductase activity	GO:0016491	9.35	SUOX PNPO PAH HADH ACADS
3	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	GO:0016811	9.16	VNN2 BTD
4	biotin binding	GO:0009374	8.62	PC HLCS

Sources

Sources for Biotinidase Deficiency

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

Biotinidase Deficiency (BTD DEFICIENCY)

Aliases & Classifications for Biotinidase Deficiency

MalaCards integrated aliases for Biotinidase Deficiency:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

GeneReviews:

Classifications:

External Ids:

Summaries for Biotinidase Deficiency

Related Diseases for Biotinidase Deficiency

Diseases related to Biotinidase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Biotinidase Deficiency:

Symptoms & Phenotypes for Biotinidase Deficiency

Human phenotypes related to Biotinidase Deficiency:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Biotinidase Deficiency:

GenomeRNAi Phenotypes related to Biotinidase Deficiency according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Biotinidase Deficiency

Drugs for Biotinidase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Cochrane evidence based reviews: biotinidase deficiency

Genetic Tests for Biotinidase Deficiency

Genetic tests related to Biotinidase Deficiency:

Anatomical Context for Biotinidase Deficiency

MalaCards organs/tissues related to Biotinidase Deficiency:

Publications for Biotinidase Deficiency

Articles related to Biotinidase Deficiency:

Genes for Biotinidase Deficiency

Genes related to Biotinidase Deficiency (1 elite genes):

Variations for Biotinidase Deficiency

ClinVar genetic disease variations for Biotinidase Deficiency:

UniProtKB/Swiss-Prot genetic disease variations for Biotinidase Deficiency:

Expression for Biotinidase Deficiency

Pathways for Biotinidase Deficiency

Pathways related to Biotinidase Deficiency according to KEGG:

Pathways related to Biotinidase Deficiency according to GeneCards Suite gene sharing:

GO Terms for Biotinidase Deficiency

Cellular components related to Biotinidase Deficiency according to GeneCards Suite gene sharing:

Biological processes related to Biotinidase Deficiency according to GeneCards Suite gene sharing:

Molecular functions related to Biotinidase Deficiency according to GeneCards Suite gene sharing:

Sources for Biotinidase Deficiency