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

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:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases
Inborn errors of metabolism


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

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:



Diseases related to Biotinidase Deficiency

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

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
1
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
2
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
3 Immunologic Factors Phase 2
4 Anti-Infective Agents Phase 2
5 Cyclosporins Phase 2
6 Immunosuppressive Agents Phase 2
7 Antifungal Agents Phase 2
8 Dermatologic Agents Phase 2
9 Calcineurin Inhibitors Phase 2
10 Antirheumatic Agents Phase 2
11
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
12
Biotin Approved, Investigational, Nutraceutical 58-85-5 171548
13 Trace Elements
14 Vitamins
15 Vitamin B Complex
16 Nutrients
17 Folate
18 Vitamin B7
19 Micronutrients
20 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

Genetic Tests for Biotinidase Deficiency

Genetic tests related to Biotinidase Deficiency:

# Genetic test Affiliating Genes
1 Biotinidase Deficiency 29 BTD

Anatomical Context for Biotinidase Deficiency

MalaCards organs/tissues related to Biotinidase Deficiency:

40
Skin, Testes, Brain, Cerebellum, Spinal Cord, Liver, Eye

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
9654207 1998
2
Profound biotinidase deficiency in two asymptomatic adults. 61 54 6 56 24
9375914 1997
3
Novel mutations cause biotinidase deficiency in Turkish children. 54 6 56 61
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
10400129 1999
5
Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency. 61 54 56 6
7550325 1995
6
Hearing loss in biotinidase deficiency: genotype-phenotype correlation. 61 54 56 24
17382128 2007
7
Statistical approaches for the detection of heterozygotes for biotinidase deficiency. 61 54 56 24
1877614 1991
8
Human serum biotinidase. cDNA cloning, sequence, and characterization. 24 6 61
7509806 1994
9
Biotinidase deficiency: a survey of 10 cases. 61 24 56
3196050 1988
10
Biotinidase deficiency: initial clinical features and rapid diagnosis. 24 61 56
4073853 1985
11
Biotinidase deficiency: a novel vitamin recycling defect. 61 56 24
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
11313766 2001
14
Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency. 6 54 61
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
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
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
9099842 1997
18
Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure. 6 61 54
8894703 1996
19
Infantile spasms as the initial symptom of biotinidase deficiency. 61 56 54
8283357 1994
20
Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency. 54 56 61
1729884 1992
21
Comparison of patients with complete and partial biotinidase deficiency: biochemical studies. 56 54 61
2109151 1990
22
Clinical utility gene card for: biotinidase deficiency. 61 6
22378278 2012
23
Clinical issues and frequent questions about biotinidase deficiency. 54 61 24
20129807 2010
24
Profound biotinidase deficiency in a child with predominantly spinal cord disease. 61 54 24
18645204 2008
25
Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases. 61 24 54
16435182 2005
26
Biotinidase deficiency: a treatable leukoencephalopathy. 24 61 54
15328559 2004
27
Outcome in patients with profound biotinidase deficiency: relevance of newborn screening. 54 61 24
15230462 2004
28
Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations. 24 54 61
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
14628140 2003
30
Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency. 54 24 61
11865279 2002
31
Mutations in BTD causing biotinidase deficiency. 56 61
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
11388594 2001
33
Biotinidase Deficiency 61 6
20301497 2000
34
Delayed-onset profound biotinidase deficiency. 24 61 54
9506660 1998
35
Biotinidase deficiency in Scotland. 56 61
8050627 1994
36
Characterization of seizures associated with biotinidase deficiency. 54 61 24
8327137 1993
37
Ophthalmologic findings in biotinidase deficiency. 24 54 61
8278163 1993
38
Cerebral metabolic change after treatment in biotinidase deficiency. 24 54 61
8412000 1993
39
A biotinidase Km variant causing late onset bilateral optic neuropathy. 61 24 54
1739323 1992
40
Worldwide survey of neonatal screening for biotinidase deficiency. 54 24 61
1779651 1991
41
Neonatal screening for biotinidase deficiency. A pilot study in Scotland. 61 56
2515386 1989
42
Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn. 56 61
2502673 1989
43
Basal ganglia calcifications in a case of biotinidase deficiency. 56 61
3399084 1988
44
Neonatal screening for biotinidase deficiency in north eastern Italy. 56 61
3391228 1988
45
Multiple carboxylase deficiency due to deficiency of biotinidase. 61 56
3783319 1986
46
Neonatal screening for biotinidase deficiency: results of a 1-year pilot study. 56 61
3944695 1986
47
Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program. 61 56
4000223 1985
48
Biotinidase deficiency: presymptomatic treatment. 56 61
4015175 1985
49
Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency. 56 61
3926500 1985
50
Biotinidase deficiency: factors responsible for the increased biotin requirement. 61 56
3930842 1985
51
Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency. 61 56
3930850 1985
52
Biotinidase deficiency and the eye and ear. 61 56
6137736 1983
53
Biotinidase deficiency in juvenile multiple carboxylase deficiency. 61 56
6135890 1983
54
Deficient biotinidase activity in late-onset multiple carboxylase deficiency. 61 56
6848914 1983
55
First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice. 61 24
27014582 2016
56
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss. 24 61
26358973 2015
57
First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children. 24 61
28649532 2015
58
The Biotinidase Gene Variants Registry: A Paradigm Public Database. 61 24
23550138 2013
59
Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. 24 61
22698809 2012
60
Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have". 61 24
22241090 2012
61
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. 6
22475884 2012
62
The neurology of biotinidase deficiency. 61 24
21696988 2011
63
Carrier testing for severe childhood recessive diseases by next-generation sequencing. 6
21228398 2011
64
Technical standards and guidelines for the diagnosis of biotinidase deficiency. 24 61
20539236 2010
65
Biotinidase Deficiency: New Directions and Practical Concerns. 24 61
12791199 2003
66
Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype. 61 24
11998918 2002
67
Structure of the human biotinidase gene. 61 24
9530634 1998
68
Biotinidase deficiency with neurological features resembling multiple sclerosis. 61 24
9323568 1997
69
Biotinidase and its roles in biotin metabolism. 61 24
8930409 1996
70
Biotinidase mutational "hotspot'. 6
8640218 1996
71
First trimester prenatal exclusion of biotinidase deficiency. 61 24
7707701 1994
72
Recovery from neurological deficits following biotin treatment in a biotinidase Km variant. 61 24
8352834 1993
73
The major presenting symptom in a biotinidase-deficient patient: laryngeal stridor. 56
1527996 1992
74
Laryngeal stridor as a leading symptom in a biotinidase-deficient patient. 56
3148078 1988
75
Sudden death associated with biotinidase deficiency. 24 61
3822661 1987
76
Inheritable biotin-treatable disorders and associated phenomena. 56
3089241 1986
77
Long-term auditory and visual complications of biotinidase deficiency. 61 24
4054050 1985
78
Potential for prenatal diagnosis of biotinidase deficiency. 61 24
6483793 1984
79
Deficient liver biotinidase activity in multiple carboxylase deficiency. 56
6135889 1983
80
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. 61 24
6883721 1983
81
Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency. 56
6212592 1982
82
Defective biotin absorption in multiple carboxylase deficiency. 56
6114319 1981
83
Two forms of biotin-responsive multiple carboxylase deficiency. 56
6790844 1981
84
Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder. 56
7436398 1980
85
A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduria. 56
6766095 1980
86
A case of biotin-responsive 3-methylcrotonylglycin- and 3-hydroxyisovaleric aciduria. 56
499258 1979
87
Biotin-responsive alopecia and developmental regression. 56
88555 1979
88
Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria. 56
917614 1977
89
Evidence for the enzymic defect in beta-methylcrotonylglycinuria. 56
4715674 1973
90
Biotin-responsive beta-methylcrotonylglycinuria. 56
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
20204226 2010
92
Neonatal screening for biotidinidase deficiency: results of a 1-year pilot study in four cities in central Anatolia. 61 54
20333870 2009
93
Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency. 54 61
18845537 2008
94
Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients. 61 54
18545994 2008
95
Biotinidase deficiency and juvenile myelomonocytic leukemia in a Turkish infant of consanguineous parents. 61 54
17710663 2007
96
Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary. 61 54
17185019 2007
97
Spinal cord demyelination associated with biotinidase deficiency in 3 Chinese patients. 61 54
17621476 2007
98
Audiologic findings in children with biotinidase deficiency in Turkey. 61 54
17161472 2007
99
Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation. 61 54
17092467 2006
100
[Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency]. 54 61
17274881 2006
101
Qualitative colorimetric ultramicroassay for the detection of biotinidase deficiency in newborns. 61 54
16480705 2006
102
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]. 54 61
16398167 2005
103
Biotinidase: its role in biotinidase deficiency and biotin metabolism. 54 61
15992688 2005
104
Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result. 61 54
15711955 2005
105
Successful pregnancy in a treated patient with biotinidase deficiency. 54 61
16151912 2005
106
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency. 54 61
15877202 2005
107
[Optic neuropathy in biotinidase deficiency]. 54 61
15306966 2004
108
A boy with spastic paraparesis and dyspnea. 61 54
15224716 2004
109
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis. 54 61
15095958 2004
110
A case of partial biotinidase deficiency associated with autism. 54 61
13680408 2003
111
Biotinidase deficiency: clinical and MRI findings consistent with myelopathy. 61 54
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
12766862 2003
113
[Diagnosis and treatment of biotinidase deficiency-clinical study of six patients]. 61 54
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
12618081 2003
115
Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies. 61 54
14707518 2003
116
Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency. 61 54
12372635 2002
117
Seventeen novel mutations that cause profound biotinidase deficiency. 54 61
12359137 2002
118
Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening. 61 54
12227467 2002
119
Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness. 54 61
11952077 2002
120
[Biotinidase deficiency--a case report]. 61 54
12608316 2002
121
[Biotinidase deficiency and eye]. 61 54
12608322 2002
122
Conservation of biotindase in mammals and identification of the putative biotinidase gene in Drosophila melanogaster. 61 54
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
11282096 2001
124
Reversible deafness caused by biotinidase deficiency. 61 54
11033293 2000
125
The magnitude and challenge of false-positive newborn screening test results. 54 61
10891024 2000
126
Biotinidase deficiency--a treatable entity. 61 54
10932969 2000
127
Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation. 61 54
10770035 2000
128
Biotinidase deficiency: a treatable genetic disorder in the Saudi population. 61 54
11924114 1999
129
Chronic vaginal candidiasis responsive to biotin therapy in a carrier of biotinidase deficiency. 61 54
9764646 1998
130
[Prevalence study of biotinidase deficiency in newborns]. 61 54
9713119 1998
131
Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses. 54 61
9516011 1998
132
[Multiple carboxylase deficiency]. 61 54
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
10206677 1998
134
Late presentation of biotinidase deficiency with acute visual loss and gait disturbance. 61 54
9433860 1997
135
Biotinidase deficiency: two cases of very early presentation. 61 54
9433861 1997
136
Cerebral metabolic changes in biotinidase deficiency. 61 54
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
9232193 1997
138
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism. 61 54
9350481 1997
139
Biotinidase deficiency: result of treatment with biotin from age 12 years. 61 54
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
8593541 1995
141
Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia. 61 54
8750607 1995
142
Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases. 61 54
7825232 1994
143
Biotinidase deficiency: early neurological presentation. 61 54
8138076 1994
144
Screening for biotinidase deficiency in some skin diseases. 61 54
7761790 1994
145
[Biotinidase deficiency. Progressive encephalopathy curable with biotin]. 54 61
8053766 1993
146
Biotinidase activity in patients with liver disease. 61 54
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
8213911 1993
148
Reversal of brain atrophy with biotin treatment in biotinidase deficiency. 54 61
8232780 1993
149
Deteriorating neurological and neuroradiological course in treated biotinidase deficiency. 61 54
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
1524870 1992
151
Biotinidase deficiency: a rare cause of laryngeal stridor. 61 54
1592565 1992
152
[Juvenile optic neuropathy caused by Km variants of biotinidase]. 61 54
1315891 1992
153
Biochemical and immunologic characterization of serum biotinidase in partial biotinidase deficiency. 61 54
1561012 1992
154
Lipoamidase and biotinidase deficiency: evidence that lipoamidase and biotinidase are the same enzyme in human serum. 61 54
1599976 1992
155
Neuropathology of biotinidase deficiency. 61 54
1441928 1992
156
Skin manifestations of biotin deficiency. 61 54
1764357 1991
157
[Biotinidase deficiency. Results of neonatal screening 1985-1989 in Lower Saxony]. 54 61
1896047 1991
158
Isoforms of human serum biotinidase. 24
2049867 1991
159
Screening for biotinidase deficiency in children with unexplained neurologic or developmental abnormalities. 61 54
1706649 1991
160
Neonatal screening for biotinidase deficiency in east-Hungary. 61 54
1779652 1991
161
Partial biotinidase deficiency associated with Coffin-Siris syndrome. 61 54
2373113 1990
162
Screening for biotinidase deficiency in newborns: worldwide experience. 54 61
2314964 1990
163
Partial biotinidase deficiency: clinical and biochemical features. 61 54
2295967 1990
164
Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample. 24
3918814 1985
165
Biotinidase deficiency in differential diagnosis of neuromyelitis optica spectrum disorder. 61
32559702 2020
166
Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome. 61
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
32281057 2020
168
Biotinidase Deficiency With Suspected Sotos Syndrome: A Rare Entity. 61
32523854 2020
169
Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population. 61
32003480 2020
170
Any individual with multiple sclerosis who markedly improves neurologically with high-doses of biotin should be evaluated for biotinidase deficiency. 61
32440355 2020
171
Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency. 61
32235217 2020
172
Health-care providers' perspectives on uncertainty generated by variant forms of newborn screening targets. 61
31597957 2020
173
Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population. 61
32300527 2020
174
Acrodermatitis enteropathica-like skin eruption with neonatal seizures in a child with biotinidase deficiency. 61
31323123 2020
175
[A case of brain liquefaction caused by biotinidase deficiency]. 61
32102155 2020
176
Biotinidase Deficiency: Prevalence, Impact And Management Strategies. 61
32440248 2020
177
Biotinidase deficiency in a newborn. 61
31594257 2020
178
Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency. 61
31973013 2020
179
Frequency of biotinidase gene variants and incidence of biotinidase deficiency in the Newborn Screening Program in Minas Gerais, Brazil. 61
31801038 2019
180
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]. 61
31665838 2019
181
Biotin interference in immunoassays based on biotin-strept(avidin) chemistry: An emerging threat. 61
30872068 2019
182
Effect of BTD gene variants on in vitro biotinidase activity. 61
31337602 2019
183
Biotinidase deficiency: A treatable cause of opticospinal syndrome in young adults✰. 61
31035122 2019
184
Genetic defect of the sodium-dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency. 61
31392107 2019
185
Epidemiology of rare diseases detected by newborn screening in the Czech Republic. 61
31241292 2019
186
Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil. 61
30912303 2019
187
Biotinidase Deficiency: A Treatable Neurological Inborn Error of Metabolism. 61
30905112 2019
188
Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders. 61
30551056 2019
189
Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population. 61
30616616 2019
190
Congenital biotinidase deficiency - MRI findings in two cases. 61
31000952 2019
191
Serum Level of Biotin Rather than the Daily Dosage Is the Main Determinant of Interference on Thyroid Function Assays. 61
31655813 2019
192
Epilepsy in Biotinidase Deficiency Is Distinct from Early Myoclonic Encephalopathy. 61
30001564 2018
193
Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated. 61
29954013 2018
194
Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy. 61
29025919 2018
195
Single center experience of biotinidase deficiency: 259 patients and six novel mutations. 61
29995633 2018
196
Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. 61
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
29680633 2018
198
Are we missing patients with biotinidase deficiency in France? 61
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
29353266 2018
200
Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China. 61
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
29240078 2018
202
Biotinidase deficiency masquerading as multiple sclerosis? 61
28337933 2018
203
Reply to the letter: Biotinidase deficiency masquerading as multiple sclerosis? 61
28337934 2018
204
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review. 61
29445937 2018
205
Could nodding syndrome in Northern Uganda be a form of autism spectrum disorder? an observational study design. 61
30364427 2018
206
Characterizing the Biotinidase Deficiency in a Child When Considering a Possible Disease Association. 61
28991128 2018
207
Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor β1 and biotinidase deficiencies. 61
30968642 2018
208
Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy. 61
29899766 2018
209
Neonatal screening for biotinidase deficiency: A 30-year single center experience. 61
28971021 2017
210
"Think metabolic" in adults with diagnostic challenges: Biotinidase deficiency as a paradigm disorder. 61
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
28682309 2017
212
Developmental window of sensorineural deafness in biotinidase-deficient mice. 61
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
28653700 2017
214
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency. 61
28281033 2017
215
[Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up]. 61
29039164 2017
216
Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. 61
27657684 2017
217
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease. 61
28054209 2017
218
Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease. 61
27207447 2017
219
Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency. 61
28220409 2017
220
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. 61
28498829 2017
221
Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. 61
28640880 2017
222
Differential gene expression during early development in brains of wildtype and biotinidase-deficient mice. 61
27752475 2016
223
Subcortical DNET in a Patient With an Enzymatic Deficiency: A Rare Case and Review of the Literature. 61
27271814 2016
224
Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population. 61
27845546 2016
225
Diagnostic Dilemma Of Biotinidase Deficiency: Case Of A Child From Pakistan. 61
28586590 2016
226
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations. 61
27329734 2016
227
A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit. 61
27761288 2016
228
Biotinidase deficiency and our champagne legacy. 61
26456103 2016
229
Comment on: Childhood optic atrophy in biotinidase deficiency. 61
27688290 2016
230
Clinical utility gene card for: Biotinidase deficiency-update 2015. 61
26577040 2016
231
Celiac Disease Presenting with Biotinidase Deficiency and Paraplegia. 61
26830281 2016
232
Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency. 61
27144235 2016
233
Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency. 61
28356871 2016
234
Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn. 61
26656798 2016
235
Forty-eight novel mutations causing biotinidase deficiency. 61
26810761 2016
236
Inherited metabolic disorders in Turkish patients with autism spectrum disorders. 61
26055667 2016
237
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014). 61
26589311 2016
238
[The criteria of early detection of biotinidase deficiency-based epilepsy]. 61
27240052 2016
239
Outcomes of oral biotin treatment in patients with biotinidase deficiency - Twenty years follow-up. 61
28649539 2015
240
Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India. 61
26816961 2015
241
Neurometabolic Disorders-Related Early Childhood Epilepsy: A Single-Center Experience in Saudi Arabia. 61
26117549 2015
242
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014). 61
26361991 2015
243
Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder. 61
26037171 2015
244
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood. 61
26203071 2015
245
Nuclear Gene-Encoded Leigh Syndrome Overview 61
26425749 2015
246
Quantitative Analytical Method for the Determination of Biotinidase Activity in Dried Blood Spot Samples. 61
26400555 2015
247
Newborn Screening: What Does the Emergency Physician Need to Know? 61
26335232 2015
248
Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency. 61
26169436 2015
249
Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening. 61
25754625 2015
250
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. 61
25795614 2015
251
Biotinidase deficiency mimicking primary immune deficiencies. 61
25956498 2015
252
Feasibility study of an outreach program of newborn screening in Uttar Pradesh. 61
25366286 2015
253
Why screen newborns for profound and partial biotinidase deficiency? 61
25638506 2015
254
Mutations in BTD gene causing biotinidase deficiency: a regional report. 61
25423671 2015
255
Brainstem and spinal cord lesions associated with skin changes and hearing loss: think of biotinidase deficiency. 61
25556014 2015
256
Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years. 61
25144890 2015
257
A rare mutation in EIF2B4 gene in an epileptic child with vanishing white matter disease: a case report. 61
26043506 2015
258
Severe neonatal holocarboxylase synthetase deficiency in west african siblings. 61
25690727 2015
259
Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report. 61
26221165 2015
260
High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil. 61
25967232 2015
261
[Biotinidase deficiency and vascular ring malformation: case report]. 61
25192539 2014
262
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. 61
25174816 2014
263
Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India. 61
25228601 2014
264
Multiple carboxylase deficiency (late onset) due to deficiency of biotinidase. 61
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
24797656 2014
266
Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency. 61
24630269 2014
267
Austrian Newborn Screening Program: a perspective of five decades. 61
24225125 2014
268
Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011. 61
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
24516753 2014
270
Optic neuropathy due to biotinidase deficiency in a 19-year-old man. 61
24525934 2014
271
Biotinidase deficiency: novel mutations in Algerian patients. 61
23481307 2014
272
Management of anesthesia in biotinidase deficiency. 61
24574621 2014
273
Abnormal cerebrospinal fluid biochemistry in biotinidase deficiency causing diagnostic conundrum. 61
23220796 2014
274
Role of optic microscopy for early diagnosis of Menkes disease. 61
25329126 2014
275
The development and organization of newborn screening programs in Turkey. 61
24375520 2014
276
NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates. 61
25012580 2014
277
Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns. 61
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
24075304 2013
279
[Vitamin-responsive epilepsies: an update]. 61
24080039 2013
280
Diagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan. 61
24169397 2013
281
Etiology and outcome of inborn errors of metabolism. 61
24601187 2013
282
Biotinidase deficiency in childhood. 61
24005734 2013
283
High incidence of partial biotinidase deficiency cases in newborns of Greek origin. 61
23644139 2013
284
Hair-shaft abnormality in a 7-year-old girl. Trichorrhexis nodosa dueto biotinidase deficiency. 61
23552716 2013
285
Biotinidase deficiency: a reversible neurometabolic disorder (an Iranian pediatric case series). 61
24665318 2013
286
Biotinidase Deficiency, Bilateral Optic Atrophy, and a Visual Field Defect. 61
28167995 2013
287
Biotinidase deficiency: an atypical presentation. 61
24066991 2013
288
Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E. 61
23622402 2013
289
Ataxia. 61
23622331 2013
290
[Expanded newborn screening in the Region of Murcia, Spain. Three-years experience]. 61
22137990 2012
291
Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration. 61
22579707 2012
292
A microsphere-based assay for mutation analysis of the biotinidase gene using dried blood spots. 61
27625817 2012
293
Hemophagocytic syndrome in a 4-month-old infant with biotinidase deficiency. 61
22605457 2012
294
Biotinidase deficiency in Pakistani children; what needs to be known and done. 61
22755269 2012
295
Optic neuritis in a child with biotinidase deficiency: case report and literature review. 61
22457589 2012
296
Biotinidase deficiency. 61
24623922 2012
297
Epilepsy in biotinidase deficiency after biotin treatment. 61
23430899 2012
298
VACTERL association: a new case with biotinidase deficiency and annular pancreas. 61
22010814 2012
299
Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening. 61
22011816 2011
300
A girl with spastic tetraparesis associated with biotinidase deficiency. 61
21571559 2011
301
[Biotinidase deficiency: the two faces of metabolic screening]. 61
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
21752405 2011
303
Biotinidase deficiency presenting as recurrent myelopathy in a 7-year-old boy and a review of the literature. 61
21907891 2011
304
Biotinidase deficiency--clinching the diagnosis rapidly can make all the difference! 61
22679321 2011
305
Ohtahara syndrome with biotinidase deficiency. 61
21115748 2011
306
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder. 61
21051254 2011
307
Peculiar neuroimaging and electrophysiological findings in a patient with biotinidase deficiency. 61
21123088 2011
308
Profound biotinidase deficiency: a rare disease among native Swedes. 61
20224900 2010
309
Newborn screening conditions: What we know, what we do not know, and how we will know it. 61
21150366 2010
310
Expanded newborn screening in Greece: 30 months of experience. 61
20721692 2010
311
High frequencies of biotinidase (BTD) gene mutations in the Hungarian population. 61
20549359 2010
312
The national Austrian newborn screening program - eight years experience with mass spectrometry. past, present, and future goals. 61
20938748 2010
313
Two unusual clinical and radiological presentations of biotinidase deficiency. 61
20153672 2010
314
Analysis of mutations causing biotinidase deficiency. 61
20556795 2010
315
Holocarboxylase synthetase deficiency: novel clinical and molecular findings. 61
20095979 2010
316
The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC). 61
20083419 2010
317
[Epilepsy onset between one month and three months of life: our 11 years experience]. 61
20487708 2010
318
[Epileptic encephalopathy due to partial biotinidase deficiency]. 61
20171151 2010
319
Biotin responsive seizures and encephalopathy due to biotinidase deficiency. 61
20508364 2010
320
Biotinidase deficiency: A treatable cause of infantile seizures. 61
21042519 2010
321
Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency. 61
19728141 2009
322
High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota. 61
19757147 2009
323
Brain diffusion-weighted and diffusion tensor imaging findings in an infant with biotinidase deficiency. 61
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
18814980 2009
325
Current trends in the treatment of infantile spasms. 61
19557123 2009
326
Biotinidase deficiency with hypertonia as unusual feature. 61
19179722 2009
327
[Updating neonatal neurometabolic screening]. 61
19240000 2009
328
Biotin and biotinidase deficiency. 61
19727438 2008
329
Biotinidase deficiency. 61
18820388 2008
330
[Prevalence of diseases diagnosed by the Program of Neonatal Screening in Maringá, Paraná, Brazil: 2001-2006]. 61
19068582 2008
331
Determination of biotin (vitamin H) by the high-performance affinity chromatography with a trypsin-treated avidin-bound column. 61
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
18289467 2008
333
[Values of tandem mass spectrometry in etiologic diagnosis of cerebral developmental retardation]. 61
18339284 2007
334
Three dimensional structure of human biotinidase: computer modeling and functional correlations. 61
17629531 2007
335
Long-term follow-up of hearing loss in biotinidase deficiency. 61
17761663 2007
336
Neonatal screening in Europe; the situation in 2004. 61
17616847 2007
337
Newborn screening fact sheets. 61
16950973 2006
338
Introduction to the newborn screening fact sheets. 61
16960984 2006
339
Serum and liver tissue biotinidase enzyme activity in rats which were administrated to valproic acid. 61
16682156 2006
340
Comprehensive cost-utility analysis of newborn screening strategies. 61
16735255 2006
341
Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. 61
16465618 2006
342
Community genetics and dignity in diversity in the Quebec Network of Genetic Medicine. 61
16741343 2006
343
An overview of hereditary hearing loss. 61
16428895 2006
344
Biotinidase reveals the morphogenetic sequence in cochlea and cochlear nucleus of mice. 61
16107307 2005
345
Evolutionary conservation of biotinidase: implications for the enzyme's structure and subcellular localization. 61
16150625 2005
346
Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. 61
15776412 2005
347
Emergency department presentation of biotinidase deficiency: fulminant sepsis in a 4-year-old Hispanic male. 61
14716165 2004
348
[West's syndrome. Analysis, aetiological factors and therapeutic options]. 61
14533111 2003
349
Biotinidase deficiency-Diagnosis by enzyme assay and a follow-up study. 61
23105388 2003
350
The effect of neonatal jaundice on biotinidase activity. 61
12706308 2003
351
Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia. 61
14739685 2003
352
Newborn screening compared to clinical identification of biochemical genetic disorders. 61
12638945 2002
353
Biotin-dependent carboxylase activities in different CNS and skin-derived cells, and their sensitivity to biotin-depletion. 61
12214565 2002
354
Biocytin and biotin uptake into NB2a neuroblastoma and C6 astrocytoma cells. 61
11792359 2002
355
Neonatal biochemical screening for disease. 61
11728413 2002
356
Low serum biotinidase activity in children with valproic acid monotherapy. 61
11737173 2001
357
[Biotinidase deficiency]. 61
11462434 2001
358
Cutaneous and neurologic manifestations of biotinidase deficiency. 61
10849128 2000
359
[Model project for updating neonatal screening in Bavaria: concept and initial results]. 61
10844815 2000
360
Biotin and biocytin uptake into cultured primary calf brain microvessel endothelial cells of the blood-brain barrier. 61
10708686 2000
361
Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations. 61
10799968 2000
362
Novel mutations in children with profound biotinidase deficiency from Saudi Arabia. 61
10801060 2000
363
Amino acid homologies between human biotinidase and bacterial aliphatic amidases: putative identification of the active site of biotinidase. 61
10720437 2000
364
Sickle-cell disease not identified by newborn screening because of prior transfusion. 61
10657834 2000
365
Examination of the signal peptide region of human biotinidase using a baculovirus expression system. 61
10655158 2000
366
[Biotinidase deficiency: importance of its neonatal diagnosis and early treatment]. 61
10394193 1999
367
The effect of isotretinoin on biotinidase activity. 61
10325581 1999
368
Incidence of biotinidase deficiency in Turkish newborns. 61
9825985 1998
369
A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism. 61
9793900 1998
370
Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy. 61
9686819 1998
371
[Programs of systematic screening in neonatology. Pharmaco-economic aspects]. 61
9689890 1998
372
[Biotinidase deficiency (late-onset multiple carboxylase deficiency)]. 61
9645048 1998
373
[Biotinidase deficiency]. 61
9616944 1997
374
A colorimetric assay of lipoyl-N-epsilon-lysine hydrolysis activity using 2,6-dibromoquinone-4-chlorimide. 61
8811903 1996
375
[Biotinidase deficiency. Its form of presentation and response to treatment]. 61
8796946 1996
376
Plasma total odd-chain fatty acids in the monitoring of disorders of propionate, methylmalonate and biotin metabolism. 61
8982947 1996
377
Late-onset holocarboxylase synthetase deficiency. 61
8982946 1996
378
Current approaches to genetic metabolic screening in newborns. 61
7849819 1994
379
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism. 61
7726385 1994
380
Normalisation of severe cranial CT scan abnormalities after biotin in a case of biotinidase deficiency. 61
7843204 1994
381
Biocytin-specific 110-kDa biotinidase from human serum. 61
8513569 1993
382
Cerebrospinal fluid organic acids in biotinidase deficiency. 61
7609439 1993
383
Neonatal screening for biotinidase deficiency. 61
1503382 1992
384
[National screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia]. 61
1595380 1992
385
Skin signs of nutritional disorders. 61
1550720 1992
386
[25 years Austrian screening program for inborn errors of metabolism at the Vienna University]. 61
1413809 1992
387
Chromosomal and biochemical screening on mentally retarded school children in Taiwan. 61
1753440 1991
388
Rat as a potential model for hearing loss in biotinidase deficiency. 61
2018287 1991
389
Effects of age and biotin status on postnatal development of plasma biotinidase activity in rats. 61
2015113 1991
390
Biotinidase deficiency. 61
1927696 1991
391
Lipoamidase activity in human serum is due to biotinidase. 61
2225462 1990
392
Biotinidase deficiency in black children. 61
2329428 1990
393
Na(+)-dependent biotin transport into brush-border membrane vesicles from rat kidney. 61
2330980 1990
394
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]. 61
2356250 1990
395
Fatty acid transport in multiple carboxylase deficiency fibroblasts. 54
2123277 1990
396
[Biotinidase deficiency: a congenital metabolic disease which can be successfully treatment with vitamin H]. 61
2608075 1989
397
Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome. 61
2587127 1989
398
Biotinidase deficiency associated with severe combined immunodeficiency. 61
2568564 1989
399
The quantitation of biotinidase activity in dried blood spots using microtiter transfer plates: identification of biotinidase-deficient and heterozygous individuals. 61
2774184 1989
400
Requirement of high biotin doses in a case of biotinidase deficiency. 61
2515382 1989
401
Nutritional therapy for selected inborn errors of metabolism. 61
2681328 1989
402
[Changes in the hair in a case of biotinidase deficiency]. 61
2619167 1989
403
[The hair in a case of biotinidase deficiency]. 61
3254327 1988
404
Simon has biotinidase deficiency. 61
3195302 1988
405
"Cerebral" lactic acidosis and biotinidase deficiency. 61
3234447 1988
406
Quantitative determination of biocytin in urine of patients with biotinidase deficiency using high-performance liquid chromatography (HPLC). 61
3148376 1988
407
Low biotinidase activity in plasma of some preterm infants: possible source of false-positive screening results. 61
3409923 1988
408
Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities. 61
3148068 1988
409
Inborn errors of biotin metabolism. 61
3318710 1987
410
A qualitative assessment of biotinidase deficiency. 61
3500673 1987
411
[Biotinidase deficiency: disease with mainly neurocutaneous manifestations responding to biotin]. 61
3426084 1987
412
A simple method for quantification of biotinidase activity in dried blood spot and its application to screening of biotinidase deficiency. 61
3660404 1987
413
Ocular aspects in biotinidase deficiency. Clinical and genetic original studies. 61
3658339 1987
414
Determination of biocytin. 61
3111297 1987
415
Immunological comparison of biotinidase in serum from normal and biotinidase-deficient individuals. 61
3107856 1987
416
[Results of a pilot study of neonatal screening for congenital biotinidase deficiency]. 61
3796633 1986
417
A new solid-phase assay for biotin and biocytin and its application to the study of patients with biotinidase deficiency. 61
3095002 1986
418
Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin. 61
3736876 1986
419
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease. 61
3762868 1986
420
Screening for biotinidase deficiency. 61
3702961 1986
421
Biotinidase deficiency: metabolites in CSF. 61
3099073 1986
422
Biotin-responsive encephalopathy with myoclonus, ataxia, and seizures. 61
3946108 1986
423
Neurologic symptoms of biotinidase deficiency: possible explanation. 61
4033935 1985
424
Biotinidase deficiency. 61
3925856 1985
425
Biotinidase deficiency associated with renal loss of biocytin and biotin. 61
3925858 1985
426
Enzyme studies in biotin-responsive disorders. 61
2864473 1985
427
Phenotypic variability in biotinidase deficiency. 61
6726540 1984
428
A screening method for biotinidase deficiency in newborns. 61
6690118 1984
429
The management and long term outcome of organic acidaemias. 61
6434837 1984
430
Biotinidase deficiency: clinical course and biochemical findings. 61
6438396 1984
431
Detection of biocytin in urine of children with congenital biotinidase deficiency. 61
6438010 1984
432
Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency. 61
6434860 1984
433
Biotinidase deficiency: the possible role of biotinidase in the processing of dietary protein-bound biotin. 61
6434861 1984
434
A sensitive radioassay for biotinidase activity: deficient activity in tissues of serum biotinidase-deficient individuals. 61
6661819 1983
435
Phenotypic variation in biotinidase deficiency. 61
6875714 1983

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>ASNV Pathogenic 641134
31 BTD NG_008019.2:g.5542deldeletion 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_?)deldeletion Pathogenic 833362 3:15643338-15643421
37 BTD NM_000060.3:c.1085T>ASNV Pathogenic 844380
38 BTD NM_000060.3:c.1410dupduplication Pathogenic 834119
39 BTD NM_000060.3:c.1447G>TSNV 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 INSindel 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+3deldeletion 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>TSNV 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>TSNV Likely pathogenic 371272 rs143058480 3:15643400-15643400 3:15601893-15601893
174 BTD NM_001370658.1(BTD):c.-17+1G>ASNV Likely pathogenic 370376 rs1057516440 3:15643402-15643402 3:15601895-15601895
175 BTD NM_001370658.1(BTD):c.-17+1G>CSNV Likely pathogenic 370391 rs1057516440 3:15643402-15643402 3:15601895-15601895
176 BTD NM_001370658.1(BTD):c.-17+1G>TSNV Likely pathogenic 370613 rs1057516440 3:15643402-15643402 3:15601895-15601895
177 BTD NM_001370658.1(BTD):c.-17+1deldeletion 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>TSNV 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.310-15delTdeletion 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.400-8dupduplication 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>ASNV Uncertain significance 552501 rs768258310 3:15643359-15643359 3:15601852-15601852
235 BTD NM_001370658.1(BTD):c.-59T>CSNV 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>ASNV 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>ASNV Uncertain significance 550283 rs200884349 3:15643344-15643344 3:15601837-15601837
242 BTD NM_001370658.1(BTD):c.-58G>ASNV 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>GSNV 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>ASNV Uncertain significance 664167
251 BTD NM_000060.3:c.1136A>GSNV 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>TSNV Uncertain significance 641268
255 BTD NM_000060.3:c.1596G>ASNV Uncertain significance 647364
256 BTD NM_000060.3:c.239A>CSNV Uncertain significance 657685
257 BTD NM_000060.3:c.1324G>ASNV 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>TSNV Uncertain significance 343901 rs774964227 3:15643270-15643270 3:15601763-15601763
270 BTD NM_001370658.1(BTD):c.-105C>TSNV 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>ASNV Uncertain significance 343915 rs886058118 3:15687052-15687052 3:15645545-15645545
274 BTD NM_001370658.1(BTD):c.*211G>ASNV 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>TSNV Uncertain significance 343903 rs755119589 3:15643331-15643331 3:15601824-15601824
279 BTD NM_001370658.1(BTD):c.-65G>TSNV 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>CSNV Likely benign 702558
292 BTD NM_000060.3:c.705C>ASNV Likely benign 706699
293 BTD NM_000060.3:c.312T>CSNV Likely benign 723988
294 BTD NM_000060.3:c.663C>TSNV Likely benign 721568
295 BTD NM_000060.3:c.1032C>TSNV Likely benign 743074
296 BTD NM_000060.3:c.1057G>ASNV Likely benign 742653
297 BTD NM_000060.3:c.1248C>TSNV Likely benign 744694
298 BTD NM_000060.3:c.1422A>GSNV Likely benign 750596
299 BTD NM_000060.3:c.1588C>GSNV Likely benign 746480
300 BTD NM_000060.3:c.1152C>TSNV Likely benign 766265
301 BTD NM_000060.3:c.1404C>TSNV Likely benign 766098
302 BTD NM_000060.3:c.1161C>TSNV 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>TSNV 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>GSNV 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

Expression for Biotinidase Deficiency

Search GEO for disease gene expression data for Biotinidase Deficiency.

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
Show member pathways
13.45 VNN2 SUOX SLC5A6 PNPO PCCB PC
2
Show member pathways
11.88 PCCB PC PAH HIBCH ACADS
3
Show member pathways
11.88 VNN2 SLC5A6 PNPO PCCB PC MOCS1
4
Show member pathways
11.63 PCCB HIBCH HADH ACADS
5 11.61 PC HIBCH HADH
6
Show member pathways
11.43 PCCB HADH ACADS
7
Show member pathways
11.3 LPL HADH ACADS
8 11.03 PCCB HIBCH ACADS
9
Show member pathways
10.99 PAH MOCS1
10 10.89 SLC5A6 BTD
11 10.84 PC HADH
12
Show member pathways
10.54 PCCB PC
13 9.85 HLCS BTD

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 for Biotinidase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet