MCID: BTN003
MIFTS: 57

Biotinidase Deficiency

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Metabolic diseases

Aliases & Classifications for Biotinidase Deficiency

MalaCards integrated aliases for Biotinidase Deficiency:

Name: Biotinidase Deficiency 54 12 72 23 50 24 25 56 71 29 13 52 42 14 69
Late-Onset Multiple Carboxylase Deficiency 12 23 50 24 25 56 71
Btd Deficiency 12 50 25 56 71
Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency 50 24 25
Multiple Carboxylase Deficiency, Juvenile-Onset 71 69
Juvenile-Onset Multiple Carboxylase Deficiency 12 56
Multiple Carboxylase Deficiency, Late-Onset 25 71
Biotin Deficiency 50 69
Carboxylase Deficiency, Multiple, Late-Onset 25
Deficiency of Biotinidase 12
Biotin Deficiency Disease 69
Mcd Juvenile Form 71
Late-Onset Mcd 71
Biotinidase 13
Biot 25

Characteristics:

Orphanet epidemiological data:

56
biotinidase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
age of onset usually 1 week to 2 years


HPO:

32
biotinidase deficiency:
Inheritance autosomal recessive inheritance


GeneReviews:

23
Penetrance Almost all children with profound biotinidase deficiency become symptomatic or are at risk of becoming symptomatic if not treated...

Classifications:



Summaries for Biotinidase Deficiency

NIH Rare Diseases : 50 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. last updated: 8/4/2015

MalaCards based summary : Biotinidase Deficiency, also known as late-onset multiple carboxylase deficiency, is related to multiple carboxylase deficiency and holocarboxylase synthetase deficiency, and has symptoms including optic atrophy, ataxia and myopia. An important gene associated with Biotinidase Deficiency is BTD (Biotinidase), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Miconazole and Biotin have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and cerebellum.

UniProtKB/Swiss-Prot : 71 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.

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.

OMIM : 54
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)

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

Wikipedia : 72 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 46, show less)
id Related Disease Score Top Affiliating Genes
1 multiple carboxylase deficiency 11.2
2 holocarboxylase synthetase deficiency 11.1
3 biotin deficiency 10.9
4 long qt syndrome 6 10.1 BTD HLCS
5 adenylosuccinase lyase deficiency 10.0 BTD HLCS
6 encephalopathy 10.0
7 neuromyelitis optica 9.9
8 neuropathy 9.9
9 perinephritis 9.9 BTD HLCS
10 chondrocalcinosis with early-onset osteoarthritis 9.8 BTD LPL
11 hypothyroidism 9.8
12 ataxia 9.8
13 galactosemia 9.8
14 cerebritis 9.8
15 congenital hypothyroidism 9.8
16 optic neuritis 9.7
17 neuromyelitis optica spectrum disorder 9.7
18 leigh syndrome 9.7
19 celiac disease 9.7
20 vacterl association 9.7
21 candidiasis 9.7
22 hypertonia 9.7
23 juvenile myelomonocytic leukemia 9.7
24 neuritis 9.7
25 hypotonia 9.7
26 phenylketonuria 9.7
27 epilepsy 9.7
28 spasticity 9.7
29 vaginitis 9.7
30 lipoprotein lipase deficiency 9.7
31 spinal cord disease 9.7
32 leukemia 9.7
33 laryngitis 9.7
34 severe combined immunodeficiency 9.7
35 lactic acidosis 9.7
36 skin disease 9.7
37 myopathy 9.7
38 paraplegia 9.7
39 basal ganglia calcification 9.7
40 respiratory failure 9.7
41 auditory neuropathy 9.7
42 atrioventricular block 9.6 BTD HLCS PCCB
43 body dysmorphic disorder 9.6 BTD HLCS PCCB
44 hailey-hailey disease 9.6 HLCS PCCB
45 soft palate cancer 9.1 BTD HLCS MCCC2 PCCB
46 muscular dystrophy, limb-girdle, type ic 7.7 BTD EIF2B4 HLCS LPL MCCC2 PCCB

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



Diseases related to Biotinidase Deficiency

Symptoms & Phenotypes for Biotinidase Deficiency

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
ataxia
developmental delay
seizures
lethargy
more
Abdomen- Gastroin testinal:
diarrhea
vomiting
feeding difficulties

Abdomen- Spleen:
splenomegaly

Head And Neck- Ears:
hearing loss, sensorineural

Metabolic Features:
organic aciduria
metabolic ketoacidosis

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

Head And Neck- Eyes:
optic atrophy
conjunctivitis
vision loss

Abdomen- Liver:
hepatomegaly

Skin Nails & Hair- Hair:
alopecia

Respiratory:
apnea
tachypnea
breathing problems

Skin Nails & Hair- Skin:
skin rash
seborrheic dermatitis
skin infections


Clinical features from OMIM:

253260

Human phenotypes related to Biotinidase Deficiency:

56 32 (showing 40, show less)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0000648
2 ataxia 56 32 frequent (33%) Frequent (79-30%) HP:0001251
3 myopia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000545
4 hypertonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001276
5 lethargy 56 32 occasional (7.5%) Occasional (29-5%) HP:0001254
6 alopecia 56 32 frequent (33%) Frequent (79-30%) HP:0001596
7 global developmental delay 56 32 frequent (33%) Frequent (79-30%) HP:0001263
8 muscle weakness 56 32 occasional (7.5%) Occasional (29-5%) HP:0001324
9 apnea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002104
10 coma 56 32 occasional (7.5%) Occasional (29-5%) HP:0001259
11 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
12 hyperventilation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002883
13 metabolic ketoacidosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0005979
14 visual field defect 56 32 occasional (7.5%) Occasional (29-5%) HP:0001123
15 hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000365
16 recurrent fungal infections 56 32 occasional (7.5%) Occasional (29-5%) HP:0002841
17 growth delay 56 32 occasional (7.5%) Occasional (29-5%) HP:0001510
18 laryngeal stridor 56 32 occasional (7.5%) Occasional (29-5%) HP:0006511
19 keratoconjunctivitis 56 32 frequent (33%) Frequent (79-30%) HP:0001096
20 perioral eczema 56 32 frequent (33%) Frequent (79-30%) HP:0011127
21 generalized myoclonic seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0002123
22 iris hypopigmentation 56 32 occasional (7.5%) Occasional (29-5%) HP:0007730
23 diarrhea 32 HP:0002014
24 hepatomegaly 32 HP:0002240
25 splenomegaly 32 HP:0001744
26 seizures 32 HP:0001250
27 vomiting 32 HP:0002013
28 hyperammonemia 32 HP:0001987
29 organic aciduria 32 HP:0001992
30 tachypnea 32 HP:0002789
31 recurrent skin infections 32 HP:0001581
32 diffuse cerebral atrophy 32 HP:0002506
33 conjunctivitis 32 HP:0000509
34 feeding difficulties in infancy 32 HP:0008872
35 sensorineural hearing impairment 32 HP:0000407
36 skin rash 32 HP:0000988
37 seborrheic dermatitis 32 HP:0001051
38 diffuse cerebellar atrophy 32 HP:0100275
39 visual loss 32 HP:0000572
40 abnormality of the cerebellum 56 Occasional (29-5%)

UMLS symptoms related to Biotinidase Deficiency:


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

Drugs & Therapeutics for Biotinidase Deficiency

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

(showing 17, show less)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
2
Biotin Approved, Nutraceutical Phase 1, Phase 2 58-85-5 171548
3
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
4 Antifungal Agents Phase 2
5 Anti-Infective Agents Phase 2
6 Antirheumatic Agents Phase 2
7 Calcineurin Inhibitors Phase 2
8 Cyclosporins Phase 2
9 Dermatologic Agents Phase 2
10 Immunosuppressive Agents Phase 2
11 Micronutrients Phase 1, Phase 2
12 Trace Elements Phase 1, Phase 2
13 Vitamin B Complex Phase 1, Phase 2
14 Vitamins Phase 1, Phase 2
15 Folate Nutraceutical Phase 1, Phase 2
16 Vitamin B7 Nutraceutical Phase 1, Phase 2
17 Vitamin B9 Nutraceutical Phase 1, Phase 2

Interventional clinical trials:

(showing 5, show less)

id Name Status NCT ID Phase Drugs
1 Topical Cyclosporine Suspension for the Treatment of Brittle Nails Completed NCT01064830 Phase 2 topical cyclosporine ophthalmic suspension 0.05%;vehicle
2 Study of Biotin in Patients With Biotinidase Deficiency Active, not recruiting NCT03269045 Phase 1, Phase 2 Biotin
3 Biotin Deficiency and Restless Legs Syndrome Completed NCT02011191
4 Biotin Status in Pregnancy Completed NCT00894920
5 BIOtinidase Test In Optic-Neuropathy Recruiting NCT03268681

Search NIH Clinical Center for Biotinidase Deficiency

Cochrane evidence based reviews: biotinidase deficiency

Genetic Tests for Biotinidase Deficiency

Genetic tests related to Biotinidase Deficiency:

id Genetic test Affiliating Genes
1 Biotinidase Deficiency 29 24 BTD

Anatomical Context for Biotinidase Deficiency

MalaCards organs/tissues related to Biotinidase Deficiency:

39
Skin, Testes, Cerebellum, Brain, Spinal Cord, Eye, Pancreas

Publications for Biotinidase Deficiency

Articles related to Biotinidase Deficiency:

(showing 229, show less)
id Title Authors Year
1
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics. ( 28682309 )
2017
2
Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency. ( 28220409 )
2017
3
Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. ( 28640880 )
2017
4
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]. ( 28653700 )
2017
5
Biotinidase deficiency masquerading as multiple sclerosis? ( 28337933 )
2017
6
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. ( 28498829 )
2017
7
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency. ( 28281033 )
2017
8
Reply to the letter: Biotinidase deficiency masquerading as multiple sclerosis? ( 28337934 )
2017
9
Diagnostic Dilemma Of Biotinidase Deficiency: Case Of A Child From Pakistan. ( 28586590 )
2016
10
Comment on: Childhood optic atrophy in biotinidase deficiency. ( 27688290 )
2016
11
Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn. ( 26656798 )
2016
12
A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit. ( 27761288 )
2016
13
Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population. ( 27845546 )
2016
14
Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency. ( 27144235 )
2016
15
Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease. ( 27207447 )
2016
16
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations. ( 27329734 )
2016
17
Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. ( 27657684 )
2016
18
Forty-eight novel mutations causing biotinidase deficiency. ( 26810761 )
2016
19
Celiac Disease Presenting with Biotinidase Deficiency and Paraplegia. ( 26830281 )
2016
20
Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency. ( 28356871 )
2016
21
First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice. ( 27014582 )
2016
22
Mutations in BTD gene causing biotinidase deficiency: a regional report. ( 25423671 )
2015
23
Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report. ( 26221165 )
2015
24
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014). ( 26361991 )
2015
25
Why screen newborns for profound and partial biotinidase deficiency? ( 25638506 )
2015
26
High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil. ( 25967232 )
2015
27
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood. ( 26203071 )
2015
28
Biotinidase deficiency mimicking primary immune deficiencies. ( 25956498 )
2015
29
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss. ( 26358973 )
2015
30
Biotinidase deficiency and our champagne legacy. ( 26456103 )
2015
31
Brainstem and spinal cord lesions associated with skin changes and hearing loss: think of biotinidase deficiency. ( 25556014 )
2015
32
Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder. ( 26037171 )
2015
33
Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency. ( 26169436 )
2015
34
Clinical utility gene card for: Biotinidase deficiency-update 2015. ( 26577040 )
2015
35
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. ( 25795614 )
2015
36
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. ( 24797656 )
2014
37
Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years. ( 25144890 )
2014
38
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. ( 25174816 )
2014
39
Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency. ( 24630269 )
2014
40
Abnormal cerebrospinal fluid biochemistry in biotinidase deficiency causing diagnostic conundrum. ( 23220796 )
2014
41
Management of anesthesia in biotinidase deficiency. ( 24574621 )
2014
42
Biotinidase deficiency: Novel mutations in Algerian patients. ( 23481307 )
2014
43
Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India. ( 25228601 )
2014
44
Optic neuropathy due to biotinidase deficiency in a 19-year-old man. ( 24525934 )
2014
45
Biotinidase deficiency: an atypical presentation. ( 24066991 )
2013
46
Biotinidase deficiency in childhood. ( 24005734 )
2013
47
Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns. ( 24036022 )
2013
48
Hair-shaft abnormality in a 7-year-old girl. Trichorrhexis nodosa dueto biotinidase deficiency. ( 23552716 )
2013
49
Biotinidase deficiency: a reversible neurometabolic disorder (an Iranian pediatric case series). ( 24665318 )
2013
50
High incidence of partial biotinidase deficiency cases in newborns of Greek origin. ( 23644139 )
2013
51
Diagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan. ( 24169397 )
2013
52
Hemophagocytic syndrome in a 4-month-old infant with biotinidase deficiency. ( 22605457 )
2012
53
Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. ( 22698809 )
2012
54
VACTERL association: a new case with biotinidase deficiency and annular pancreas. ( 22010814 )
2012
55
Biotinidase deficiency in Pakistani children; what needs to be known and done. ( 22755269 )
2012
56
Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration. ( 22579707 )
2012
57
Epilepsy in biotinidase deficiency after biotin treatment. ( 23430899 )
2012
58
Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have". ( 22241090 )
2012
59
Optic neuritis in a child with biotinidase deficiency: case report and literature review. ( 22457589 )
2012
60
Clinical utility gene card for: biotinidase deficiency. ( 22378278 )
2012
61
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder. ( 21051254 )
2011
62
The neurology of biotinidase deficiency. ( 21696988 )
2011
63
Peculiar neuroimaging and electrophysiological findings in a patient with biotinidase deficiency. ( 21123088 )
2011
64
Ohtahara syndrome with biotinidase deficiency. ( 21115748 )
2011
65
Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening. ( 22011816 )
2011
66
A girl with spastic tetraparesis associated with biotinidase deficiency. ( 21571559 )
2011
67
Biotinidase deficiency--clinching the diagnosis rapidly can make all the difference! ( 22679321 )
2011
68
Biotinidase deficiency presenting as recurrent myelopathy in a 7-year-old boy and a review of the literature. ( 21907891 )
2011
69
Biotin responsive seizures and encephalopathy due to biotinidase deficiency. ( 20508364 )
2010
70
[The importance of a law on time: presentation of a girl with biotinidase deficiency who was not picked up through the neonatal screening]. ( 20204226 )
2010
71
Clinical issues and frequent questions about biotinidase deficiency. ( 20129807 )
2010
72
Technical standards and guidelines for the diagnosis of biotinidase deficiency. ( 20539236 )
2010
73
[Epileptic encephalopathy due to partial biotinidase deficiency]. ( 20171151 )
2010
74
Two unusual clinical and radiological presentations of biotinidase deficiency. ( 20153672 )
2010
75
Profound biotinidase deficiency: a rare disease among native Swedes. ( 20224900 )
2010
76
Biotinidase deficiency: A treatable cause of infantile seizures. ( 21042519 )
2010
77
Analysis of mutations causing biotinidase deficiency. ( 20556795 )
2010
78
Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency. ( 19728141 )
2009
79
High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota. ( 19757147 )
2009
80
Biotinidase deficiency with hypertonia as unusual feature. ( 19179722 )
2009
81
Brain diffusion-weighted and diffusion tensor imaging findings in an infant with biotinidase deficiency. ( 19509076 )
2009
82
Profound biotinidase deficiency in a child with predominantly spinal cord disease. ( 18645204 )
2008
83
Biotinidase deficiency. ( 18820388 )
2008
84
Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients. ( 18545994 )
2008
85
Biotinidase deficiency and juvenile myelomonocytic leukemia in a Turkish infant of consanguineous parents. ( 17710663 )
2007
86
Spinal cord demyelination associated with biotinidase deficiency in 3 Chinese patients. ( 17621476 )
2007
87
Long-term follow-up of hearing loss in biotinidase deficiency. ( 17761663 )
2007
88
Audiologic findings in children with biotinidase deficiency in Turkey. ( 17161472 )
2007
89
Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary. ( 17185019 )
2007
90
Hearing loss in biotinidase deficiency: genotype-phenotype correlation. ( 17382128 )
2007
91
Qualitative colorimetric ultramicroassay for the detection of biotinidase deficiency in newborns. ( 16480705 )
2006
92
Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation. ( 17092467 )
2006
93
Biotinidase: its role in biotinidase deficiency and biotin metabolism. ( 15992688 )
2005
94
Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. ( 15776412 )
2005
95
Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result. ( 15711955 )
2005
96
Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases. ( 16435182 )
2005
97
Successful pregnancy in a treated patient with biotinidase deficiency. ( 16151912 )
2005
98
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency. ( 15877202 )
2005
99
[Optic neuropathy in biotinidase deficiency]. ( 15306966 )
2004
100
Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations. ( 15060693 )
2004
101
Outcome in patients with profound biotinidase deficiency: relevance of newborn screening. ( 15230462 )
2004
102
Emergency department presentation of biotinidase deficiency: fulminant sepsis in a 4-year-old Hispanic male. ( 14716165 )
2004
103
Biotinidase deficiency: a treatable leukoencephalopathy. ( 15328559 )
2004
104
Biotinidase deficiency: clinical and MRI findings consistent with myelopathy. ( 13679123 )
2003
105
[Diagnosis and treatment of biotinidase deficiency-clinical study of six patients]. ( 14754524 )
2003
106
A case of partial biotinidase deficiency associated with autism. ( 13680408 )
2003
107
Biotinidase Deficiency: New Directions and Practical Concerns. ( 12791199 )
2003
108
[Screening for congenital hypothyroidism, phenylketonuria, galactosemia and biotinidase deficiency in a sample of mentally retarded patients in the city of Havana]. ( 12766862 )
2003
109
Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies. ( 14628140 )
2003
110
Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency. ( 12618081 )
2003
111
Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies. ( 14707518 )
2003
112
Biotinidase deficiency-Diagnosis by enzyme assay and a follow-up study. ( 23105388 )
2003
113
Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness. ( 11952077 )
2002
114
Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening. ( 12227467 )
2002
115
Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype. ( 11998918 )
2002
116
Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency. ( 11865279 )
2002
117
[Biotinidase deficiency--a case report]. ( 12608316 )
2002
118
[Biotinidase deficiency and eye]. ( 12608322 )
2002
119
Seventeen novel mutations that cause profound biotinidase deficiency. ( 12359137 )
2002
120
Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency. ( 12372635 )
2002
121
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. ( 11388594 )
2001
122
Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation. ( 11313766 )
2001
123
Mutations in BTD causing biotinidase deficiency. ( 11668630 )
2001
124
Biotinidase deficiency--a treatable entity. ( 10932969 )
2000
125
Novel mutations cause biotinidase deficiency in Turkish children. ( 10801053 )
2000
126
Novel mutations in children with profound biotinidase deficiency from Saudi Arabia. ( 10801060 )
2000
127
Cutaneous and neurologic manifestations of biotinidase deficiency. ( 10849128 )
2000
128
Reversible deafness caused by biotinidase deficiency. ( 11033293 )
2000
129
Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children. ( 10400129 )
1999
130
Biotinidase deficiency: a treatable genetic disorder in the Saudi population. ( 11924114 )
1999
131
Chronic vaginal candidiasis responsive to biotin therapy in a carrier of biotinidase deficiency. ( 9764646 )
1998
132
Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses. ( 9516011 )
1998
133
Delayed-onset profound biotinidase deficiency. ( 9506660 )
1998
134
Incidence of biotinidase deficiency in Turkish newborns. ( 9825985 )
1998
135
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. ( 9654207 )
1998
136
Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States. ( 10206677 )
1998
137
[Prevalence study of biotinidase deficiency in newborns]. ( 9713119 )
1998
138
Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency. ( 9705240 )
1998
139
Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis. ( 9396567 )
1997
140
Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States. ( 9232193 )
1997
141
Late presentation of biotinidase deficiency with acute visual loss and gait disturbance. ( 9433860 )
1997
142
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. ( 9099842 )
1997
143
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. ( 9158148 )
1997
144
Biotinidase deficiency with neurological features resembling multiple sclerosis. ( 9323568 )
1997
145
Biotinidase deficiency: result of treatment with biotin from age 12 years. ( 10728214 )
1997
146
Cerebral metabolic changes in biotinidase deficiency. ( 9427142 )
1997
147
Biotinidase deficiency: two cases of very early presentation. ( 9433861 )
1997
148
Profound biotinidase deficiency in two asymptomatic adults. ( 9375914 )
1997
149
Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure. ( 8894703 )
1996
150
Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia. ( 8750607 )
1995
151
Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency. ( 7550325 )
1995
152
Biotinylation of histones by human serum biotinidase: assessment of biotinyl-transferase activity in sera from normal individuals and children with biotinidase deficiency. ( 8593541 )
1995
153
Biotinidase deficiency in Scotland. ( 8050627 )
1994
154
Biotinidase deficiency: early neurological presentation. ( 8138076 )
1994
155
Normalisation of severe cranial CT scan abnormalities after biotin in a case of biotinidase deficiency. ( 7843204 )
1994
156
First trimester prenatal exclusion of biotinidase deficiency. ( 7707701 )
1994
157
Screening for biotinidase deficiency in some skin diseases. ( 7761790 )
1994
158
Infantile spasms as the initial symptom of biotinidase deficiency. ( 8283357 )
1994
159
Cerebral metabolic change after treatment in biotinidase deficiency. ( 8412000 )
1993
160
[Biotinidase deficiency. Progressive encephalopathy curable with biotin]. ( 8053766 )
1993
161
Ophthalmologic findings in biotinidase deficiency. ( 8278163 )
1993
162
Cerebrospinal fluid organic acids in biotinidase deficiency. ( 7609439 )
1993
163
Characterization of seizures associated with biotinidase deficiency. ( 8327137 )
1993
164
Biotinidase Deficiency ( 20301497 )
1993
165
Reversal of brain atrophy with biotin treatment in biotinidase deficiency. ( 8232780 )
1993
166
Deteriorating neurological and neuroradiological course in treated biotinidase deficiency. ( 8327062 )
1993
167
Neuropathology of biotinidase deficiency. ( 1441928 )
1992
168
Comparison of profound biotinidase deficiency in children ascertained clinically and by newborn screening using a simple method of accurately determining residual biotinidase activity. ( 1524870 )
1992
169
Biotinidase deficiency: a rare cause of laryngeal stridor. ( 1592565 )
1992
170
Lipoamidase and biotinidase deficiency: evidence that lipoamidase and biotinidase are the same enzyme in human serum. ( 1599976 )
1992
171
Biochemical and immunologic characterization of serum biotinidase in partial biotinidase deficiency. ( 1561012 )
1992
172
Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency. ( 1729884 )
1992
173
Neonatal screening for biotinidase deficiency. ( 1503382 )
1992
174
Neonatal screening for biotinidase deficiency in east-Hungary. ( 1779652 )
1991
175
Worldwide survey of neonatal screening for biotinidase deficiency. ( 1779651 )
1991
176
Biotinidase deficiency. ( 1927696 )
1991
177
Statistical approaches for the detection of heterozygotes for biotinidase deficiency. ( 1877614 )
1991
178
[Biotinidase deficiency. Results of neonatal screening 1985-1989 in Lower Saxony]. ( 1896047 )
1991
179
Rat as a potential model for hearing loss in biotinidase deficiency. ( 2018287 )
1991
180
Screening for biotinidase deficiency in children with unexplained neurologic or developmental abnormalities. ( 1706649 )
1991
181
Partial biotinidase deficiency: clinical and biochemical features. ( 2295967 )
1990
182
Screening for biotinidase deficiency in newborns: worldwide experience. ( 2314964 )
1990
183
Biotinidase deficiency in black children. ( 2329428 )
1990
184
Comparison of patients with complete and partial biotinidase deficiency: biochemical studies. ( 2109151 )
1990
185
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]. ( 2356250 )
1990
186
Partial biotinidase deficiency associated with Coffin-Siris syndrome. ( 2373113 )
1990
187
Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome. ( 2587127 )
1989
188
Requirement of high biotin doses in a case of biotinidase deficiency. ( 2515382 )
1989
189
Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn. ( 2502673 )
1989
190
Neonatal screening for biotinidase deficiency. A pilot study in Scotland. ( 2515386 )
1989
191
Biotinidase deficiency associated with severe combined immunodeficiency. ( 2568564 )
1989
192
Biotinidase deficiency: a survey of 10 cases. ( 3196050 )
1988
193
Basal ganglia calcifications in a case of biotinidase deficiency. ( 3399084 )
1988
194
Simon has biotinidase deficiency. ( 3195302 )
1988
195
"Cerebral" lactic acidosis and biotinidase deficiency. ( 3234447 )
1988
196
Neonatal screening for biotinidase deficiency in north eastern Italy. ( 3391228 )
1988
197
Quantitative determination of biocytin in urine of patients with biotinidase deficiency using high-performance liquid chromatography (HPLC). ( 3148376 )
1988
198
Sudden death associated with biotinidase deficiency. ( 3822661 )
1987
199
A qualitative assessment of biotinidase deficiency. ( 3500673 )
1987
200
Ocular aspects in biotinidase deficiency. Clinical and genetic original studies. ( 3658339 )
1987
201
A simple method for quantification of biotinidase activity in dried blood spot and its application to screening of biotinidase deficiency. ( 3660404 )
1987
202
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease. ( 3762868 )
1986
203
Neonatal screening for biotinidase deficiency: results of a 1-year pilot study. ( 3944695 )
1986
204
Screening for biotinidase deficiency. ( 3702961 )
1986
205
Biotinidase deficiency: metabolites in CSF. ( 3099073 )
1986
206
A new solid-phase assay for biotin and biocytin and its application to the study of patients with biotinidase deficiency. ( 3095002 )
1986
207
Biotinidase deficiency: factors responsible for the increased biotin requirement. ( 3930842 )
1985
208
Biotinidase deficiency: initial clinical features and rapid diagnosis. ( 4073853 )
1985
209
Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program. ( 4000223 )
1985
210
Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency. ( 3926500 )
1985
211
Biotinidase deficiency: presymptomatic treatment. ( 4015175 )
1985
212
Biotinidase deficiency: a novel vitamin recycling defect. ( 3930841 )
1985
213
Biotinidase deficiency associated with renal loss of biocytin and biotin. ( 3925858 )
1985
214
Biotinidase deficiency. ( 3925856 )
1985
215
Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency. ( 3930850 )
1985
216
Long-term auditory and visual complications of biotinidase deficiency. ( 4054050 )
1985
217
Neurologic symptoms of biotinidase deficiency: possible explanation. ( 4033935 )
1985
218
Potential for prenatal diagnosis of biotinidase deficiency. ( 6483793 )
1984
219
Biotinidase deficiency: clinical course and biochemical findings. ( 6438396 )
1984
220
A screening method for biotinidase deficiency in newborns. ( 6690118 )
1984
221
Detection of biocytin in urine of children with congenital biotinidase deficiency. ( 6438010 )
1984
222
Biotinidase deficiency: the possible role of biotinidase in the processing of dietary protein-bound biotin. ( 6434861 )
1984
223
Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency. ( 6434860 )
1984
224
Phenotypic variability in biotinidase deficiency. ( 6726540 )
1984
225
Hearing loss in biotinidase deficiency. ( 6139700 )
1983
226
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. ( 6883721 )
1983
227
Biotinidase deficiency in juvenile multiple carboxylase deficiency. ( 6135890 )
1983
228
Biotinidase deficiency and the eye and ear. ( 6137736 )
1983
229
Phenotypic variation in biotinidase deficiency. ( 6875714 )
1983

Variations for Biotinidase Deficiency

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

71 (showing 9, show less)
id 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

ClinVar genetic disease variations for Biotinidase Deficiency:

6 (showing 159, show less)
id Gene Variation Type Significance SNP ID Assembly Location
1 BTD NM_000060.4(BTD): c.98_104delGCGGCTGinsTCC (p.Cys33Phefs) indel Pathogenic rs80338684 GRCh37 Chromosome 3, 15676984: 15676990
2 BTD BTD, 15-BP DEL/11-BP INS indel Pathogenic
3 BTD NM_000060.4(BTD): c.1595C> T (p.Thr532Met) single nucleotide variant Pathogenic rs104893688 GRCh37 Chromosome 3, 15686958: 15686958
4 BTD NM_000060.4(BTD): c.1612C> T (p.Arg538Cys) single nucleotide variant Pathogenic rs80338686 GRCh37 Chromosome 3, 15686975: 15686975
5 BTD NM_000060.4(BTD): c.100G> A (p.Gly34Ser) single nucleotide variant Pathogenic rs119103232 GRCh37 Chromosome 3, 15676986: 15676986
6 BTD NM_000060.4(BTD): c.1330G> C (p.Asp444His) single nucleotide variant Pathogenic rs13078881 GRCh37 Chromosome 3, 15686693: 15686693
7 BTD NM_000060.4(BTD): c.755A> G (p.Asp252Gly) single nucleotide variant Pathogenic rs28934601 GRCh37 Chromosome 3, 15686118: 15686118
8 BTD NM_000060.4(BTD): c.1368A> C (p.Gln456His) single nucleotide variant Pathogenic rs80338685 GRCh37 Chromosome 3, 15686731: 15686731
9 BTD NM_000060.4(BTD): c.1207T> G (p.Phe403Val) single nucleotide variant Pathogenic rs104893686 GRCh37 Chromosome 3, 15686570: 15686570
10 BTD NM_000060.4(BTD): c.235C> T (p.Arg79Cys) single nucleotide variant Pathogenic rs104893687 GRCh37 Chromosome 3, 15677121: 15677121
11 BTD NM_000060.4(BTD): c.1157G> A (p.Trp386Ter) single nucleotide variant Pathogenic rs397514401 GRCh37 Chromosome 3, 15686520: 15686520
12 BTD NM_000060.4(BTD): c.1271G> C (p.Cys424Ser) single nucleotide variant Pathogenic rs397514335 GRCh37 Chromosome 3, 15686634: 15686634
13 BTD NM_000060.4(BTD): c.136G> T (p.Glu46Ter) single nucleotide variant Pathogenic rs397514336 GRCh37 Chromosome 3, 15677022: 15677022
14 BTD NM_000060.4(BTD): c.171T> G (p.Tyr57Ter) single nucleotide variant Pathogenic rs397514339 GRCh37 Chromosome 3, 15677057: 15677057
15 BTD NM_000060.4(BTD): c.184G> T (p.Val62Leu) single nucleotide variant Pathogenic rs397507170 GRCh37 Chromosome 3, 15677070: 15677070
16 BTD NM_000060.4(BTD): c.190G> A (p.Glu64Lys) single nucleotide variant Pathogenic rs397514340 GRCh37 Chromosome 3, 15677076: 15677076
17 BTD H65fs insertion Pathogenic
18 BTD NM_000060.4(BTD): c.194A> G (p.His65Arg) single nucleotide variant Pathogenic rs397514341 GRCh37 Chromosome 3, 15677080: 15677080
19 BTD NM_000060.4(BTD): c.245C> T (p.Ala82Val) single nucleotide variant Pathogenic rs397507171 GRCh37 Chromosome 3, 15677131: 15677131
20 BTD NM_000060.4(BTD): c.246_254delCTTGGAGCT (p.Leu83_Leu85del) deletion Pathogenic rs397514346 GRCh37 Chromosome 3, 15677132: 15677140
21 BTD NM_000060.4(BTD): c.248T> C (p.Leu83Ser) single nucleotide variant Pathogenic rs397514347 GRCh37 Chromosome 3, 15677134: 15677134
22 BTD NM_000060.4(BTD): c.262C> T (p.Gln88Ter) single nucleotide variant Pathogenic rs151071780 GRCh37 Chromosome 3, 15677148: 15677148
23 BTD NM_000060.4(BTD): c.278A> G (p.Tyr93Cys) single nucleotide variant Pathogenic rs397514348 GRCh37 Chromosome 3, 15677164: 15677164
24 BTD NM_000060.4(BTD): c.298G> A (p.Ala100Thr) single nucleotide variant Pathogenic rs397514350 GRCh37 Chromosome 3, 15677184: 15677184
25 BTD NM_000060.4(BTD): c.310G> T (p.Asp104Tyr) single nucleotide variant Pathogenic rs397514351 GRCh37 Chromosome 3, 15683415: 15683415
26 BTD NM_000060.4(BTD): c.334G> C (p.Glu112Gln) single nucleotide variant Pathogenic rs397514352 GRCh37 Chromosome 3, 15683439: 15683439
27 BTD NM_000060.4(BTD): c.334G> A (p.Glu112Lys) single nucleotide variant Pathogenic rs397514352 GRCh37 Chromosome 3, 15683439: 15683439
28 BTD NM_000060.4(BTD): c.341G> T (p.Gly114Val) single nucleotide variant Pathogenic rs375712490 GRCh37 Chromosome 3, 15683446: 15683446
29 BTD NM_000060.4(BTD): c.356A> G (p.Asn119Ser) single nucleotide variant Pathogenic rs397514353 GRCh37 Chromosome 3, 15683461: 15683461
30 BTD NM_000060.4(BTD): c.364A> G (p.Arg122Gly) single nucleotide variant Pathogenic rs397514354 GRCh37 Chromosome 3, 15683469: 15683469
31 BTD NM_000060.4(BTD): c.382T> G (p.Phe128Val) single nucleotide variant Pathogenic rs397514355 GRCh37 Chromosome 3, 15683487: 15683487
32 BTD NM_000060.4(BTD): c.393delC (p.Phe131Leufs) deletion Pathogenic rs397514356 GRCh37 Chromosome 3, 15683498: 15683498
33 BTD NM_000060.4(BTD): c.424C> A (p.Pro142Thr) single nucleotide variant Pathogenic/Likely pathogenic rs397514357 GRCh37 Chromosome 3, 15683529: 15683529
34 BTD NM_000060.4(BTD): c.443G> A (p.Arg148His) single nucleotide variant Pathogenic/Likely pathogenic rs367902696 GRCh37 Chromosome 3, 15683548: 15683548
35 BTD NM_000060.4(BTD): c.445T> C (p.Phe149Leu) single nucleotide variant Pathogenic rs397514359 GRCh37 Chromosome 3, 15683550: 15683550
36 BTD NM_000060.4(BTD): c.454A> C (p.Thr152Pro) single nucleotide variant Pathogenic rs374681173 GRCh37 Chromosome 3, 15683559: 15683559
37 BTD NM_000060.4(BTD): c.459G> A (p.Glu153Glu=) single nucleotide variant Pathogenic/Likely pathogenic rs397514360 GRCh37 Chromosome 3, 15683564: 15683564
38 BTD NM_000060.4(BTD): c.466C> T (p.Gln156Ter) single nucleotide variant Pathogenic rs397514362 GRCh37 Chromosome 3, 15685829: 15685829
39 BTD NM_000060.4(BTD): c.469C> T (p.Arg157Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397514363 GRCh37 Chromosome 3, 15685832: 15685832
40 BTD NM_000060.4(BTD): c.485C> T (p.Ala162Val) single nucleotide variant Pathogenic rs397514364 GRCh37 Chromosome 3, 15685848: 15685848
41 BTD NM_000060.4(BTD): c.490_491delAG (p.Arg164Glyfs) deletion Pathogenic rs397514365 GRCh37 Chromosome 3, 15685853: 15685854
42 BTD NM_000060.4(BTD): c.511G> A (p.Ala171Thr) single nucleotide variant Pathogenic rs13073139 GRCh37 Chromosome 3, 15685874: 15685874
43 BTD NM_000060.4(BTD): c.515A> G (p.Asn172Ser) single nucleotide variant Pathogenic rs397514366 GRCh37 Chromosome 3, 15685878: 15685878
44 BTD NM_000060.4(BTD): c.528G> T (p.Lys176Asn) single nucleotide variant Pathogenic/Likely pathogenic rs397514367 GRCh37 Chromosome 3, 15685891: 15685891
45 BTD NM_000060.4(BTD): c.544delA (p.Ser182Valfs) deletion Pathogenic rs397514368 GRCh37 Chromosome 3, 15685907: 15685907
46 BTD NM_000060.4(BTD): c.557G> A (p.Cys186Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs397514369 GRCh37 Chromosome 3, 15685920: 15685920
47 BTD NM_000060.4(BTD): c.583A> G (p.Asn195Asp) single nucleotide variant Pathogenic rs397514370 GRCh37 Chromosome 3, 15685946: 15685946
48 BTD NM_000060.4(BTD): c.584A> G (p.Asn195Ser) single nucleotide variant Pathogenic rs397514371 GRCh37 Chromosome 3, 15685947: 15685947
49 BTD NM_000060.4(BTD): c.587C> G (p.Thr196Arg) single nucleotide variant Pathogenic rs397514372 GRCh37 Chromosome 3, 15685950: 15685950
50 BTD NM_000060.4(BTD): c.594_596delCGT (p.Val199del) deletion Pathogenic rs397514373 GRCh37 Chromosome 3, 15685957: 15685959
51 BTD NM_000060.4(BTD): c.594delC (p.Val199Cysfs) deletion Pathogenic rs397514374 GRCh37 Chromosome 3, 15685957: 15685957
52 BTD NM_000060.4(BTD): c.595G> A (p.Val199Met) single nucleotide variant Pathogenic/Likely pathogenic rs397514375 GRCh37 Chromosome 3, 15685958: 15685958
53 BTD NM_000060.4(BTD): c.605A> T (p.Asn202Ile) single nucleotide variant Pathogenic rs397514376 GRCh37 Chromosome 3, 15685968: 15685968
54 BTD NM_000060.4(BTD): c.631C> T (p.Arg211Cys) single nucleotide variant Pathogenic rs372844636 GRCh37 Chromosome 3, 15685994: 15685994
55 BTD NM_000060.4(BTD): c.643C> T (p.Leu215Phe) single nucleotide variant Pathogenic rs190386869 GRCh37 Chromosome 3, 15686006: 15686006
56 BTD NM_000060.4(BTD): c.652G> C (p.Glu218Gln) single nucleotide variant Pathogenic rs397514378 GRCh37 Chromosome 3, 15686015: 15686015
57 BTD NM_000060.4(BTD): c.654G> C (p.Glu218Asp) single nucleotide variant Pathogenic rs397514379 GRCh37 Chromosome 3, 15686017: 15686017
58 BTD NM_000060.4(BTD): c.682G> T (p.Asp228Tyr) single nucleotide variant Pathogenic rs397514380 GRCh37 Chromosome 3, 15686045: 15686045
59 BTD NM_000060.4(BTD): c.709G> A (p.Ala237Thr) single nucleotide variant Pathogenic rs397514381 GRCh37 Chromosome 3, 15686072: 15686072
60 BTD NM_000060.4(BTD): c.743T> C (p.Ile248Thr) single nucleotide variant Pathogenic rs397514382 GRCh37 Chromosome 3, 15686106: 15686106
61 BTD NM_000060.4(BTD): c.757C> T (p.Pro253Ser) single nucleotide variant Pathogenic rs397514383 GRCh37 Chromosome 3, 15686120: 15686120
62 BTD NM_000060.4(BTD): c.764T> C (p.Ile255Thr) single nucleotide variant Pathogenic rs397514384 GRCh37 Chromosome 3, 15686127: 15686127
63 BTD NM_000060.4(BTD): c.794A> T (p.His265Leu) single nucleotide variant Pathogenic rs397514385 GRCh37 Chromosome 3, 15686157: 15686157
64 BTD NM_000060.4(BTD): c.933T> G (p.Ser311Arg) single nucleotide variant Pathogenic rs397514386 GRCh37 Chromosome 3, 15686296: 15686296
65 BTD NM_000060.4(BTD): c.814T> G (p.Trp272Gly) single nucleotide variant Pathogenic rs397514387 GRCh37 Chromosome 3, 15686177: 15686177
66 BTD NM_000060.4(BTD): c.832C> G (p.Leu278Val) single nucleotide variant Pathogenic rs397514388 GRCh37 Chromosome 3, 15686195: 15686195
67 BTD NM_000060.4(BTD): c.833T> C (p.Leu278Pro) single nucleotide variant Pathogenic rs397514389 GRCh37 Chromosome 3, 15686196: 15686196
68 BTD NM_000060.4(BTD): c.836T> G (p.Leu279Trp) single nucleotide variant Pathogenic rs397514390 GRCh37 Chromosome 3, 15686199: 15686199
69 BTD NM_000060.4(BTD): c.887T> G (p.Val296Gly) single nucleotide variant Pathogenic rs397514391 GRCh37 Chromosome 3, 15686250: 15686250
70 BTD NM_000060.4(BTD): c.896C> T (p.Ala299Val) single nucleotide variant Pathogenic rs397514392 GRCh37 Chromosome 3, 15686259: 15686259
71 BTD NM_000060.4(BTD): c.929G> A (p.Gly310Glu) single nucleotide variant Pathogenic rs397514393 GRCh37 Chromosome 3, 15686292: 15686292
72 BTD NM_000060.4(BTD): c.932G> A (p.Ser311Asn) single nucleotide variant Pathogenic rs397514394 GRCh37 Chromosome 3, 15686295: 15686295
73 BTD NM_000060.4(BTD): c.933delT (p.Ser311Argfs) deletion Pathogenic/Likely pathogenic rs397514395 GRCh37 Chromosome 3, 15686296: 15686296
74 BTD NM_000060.4(BTD): c.934G> A (p.Gly312Ser) single nucleotide variant Pathogenic rs397514396 GRCh37 Chromosome 3, 15686297: 15686297
75 BTD NM_000060.4(BTD): c.935G> A (p.Gly312Asp) single nucleotide variant Pathogenic rs377651057 GRCh37 Chromosome 3, 15686298: 15686298
76 BTD NM_000060.4(BTD): c.1049delC (p.Ala350Glufs) deletion Pathogenic rs397514397 GRCh37 Chromosome 3, 15686412: 15686412
77 BTD NM_000060.4(BTD): c.1052delC (p.Thr351Lysfs) deletion Pathogenic rs397514398 GRCh37 Chromosome 3, 15686415: 15686415
78 BTD NM_000060.4(BTD): c.1096T> C (p.Ser366Pro) single nucleotide variant Pathogenic rs397514399 GRCh37 Chromosome 3, 15686459: 15686459
79 BTD NM_000060.4(BTD): c.1106C> T (p.Pro369Leu) single nucleotide variant Pathogenic rs397514400 GRCh37 Chromosome 3, 15686469: 15686469
80 BTD NM_000060.4(BTD): c.1334G> T (p.Gly445Val) single nucleotide variant Pathogenic rs397514402 GRCh37 Chromosome 3, 15686697: 15686697
81 BTD NM_000060.4(BTD): c.1191_1192delGA (p.Glu397Aspfs) deletion Pathogenic rs397514403 GRCh37 Chromosome 3, 15686554: 15686555
82 BTD NM_000060.4(BTD): c.1211C> T (p.Thr404Ile) single nucleotide variant Pathogenic rs397514405 GRCh37 Chromosome 3, 15686574: 15686574
83 BTD NM_000060.4(BTD): c.1214T> C (p.Leu405Pro) single nucleotide variant Pathogenic rs397514406 GRCh37 Chromosome 3, 15686577: 15686577
84 BTD NM_000060.4(BTD): c.1227_1241delGGGAAAGGAAGGCTAins11 indel Pathogenic rs672601248 GRCh37 Chromosome 3, 15686590: 15686604
85 BTD NM_000060.4(BTD): c.1239delC (p.Tyr414Ilefs) deletion Pathogenic rs397514407 GRCh37 Chromosome 3, 15686602: 15686602
86 BTD NM_000060.4(BTD): c.1252T> C (p.Cys418Arg) single nucleotide variant Pathogenic rs397514408 GRCh37 Chromosome 3, 15686615: 15686615
87 BTD NM_000060.4(BTD): c.1249G> T (p.Val417Phe) single nucleotide variant Pathogenic rs397514409 GRCh37 Chromosome 3, 15686612: 15686612
88 BTD NM_000060.4(BTD): c.1253G> C (p.Cys418Ser) single nucleotide variant Pathogenic rs397514410 GRCh37 Chromosome 3, 15686616: 15686616
89 BTD NM_000060.4(BTD): c.1264dupC (p.Leu422Profs) duplication Pathogenic rs397514411 GRCh37 Chromosome 3, 15686627: 15686627
90 BTD NM_000060.4(BTD): c.1267T> C (p.Cys423Arg) single nucleotide variant Pathogenic rs397514412 GRCh37 Chromosome 3, 15686630: 15686630
91 BTD NM_000060.4(BTD): c.1268G> C (p.Cys423Ser) single nucleotide variant Pathogenic rs397514413 GRCh37 Chromosome 3, 15686631: 15686631
92 BTD NM_000060.4(BTD): c.1271G> A (p.Cys424Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs397514335 GRCh37 Chromosome 3, 15686634: 15686634
93 BTD NM_000060.4(BTD): c.1275T> G (p.Tyr425Ter) single nucleotide variant Pathogenic rs397514414 GRCh37 Chromosome 3, 15686638: 15686638
94 BTD NM_000060.4(BTD): c.1284C> A (p.Tyr428Ter) single nucleotide variant Pathogenic rs35145938 GRCh37 Chromosome 3, 15686647: 15686647
95 BTD NM_000060.4(BTD): c.1313A> G (p.Tyr438Cys) single nucleotide variant Pathogenic rs397514415 GRCh37 Chromosome 3, 15686676: 15686676
96 BTD NM_000060.4(BTD): c.1314T> A (p.Tyr438Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397514416 GRCh37 Chromosome 3, 15686677: 15686677
97 BTD NM_000060.4(BTD): c.1333G> A (p.Gly445Arg) single nucleotide variant Pathogenic rs397514417 GRCh37 Chromosome 3, 15686696: 15686696
98 BTD NM_000060.4(BTD): c.1339C> T (p.His447Tyr) single nucleotide variant Pathogenic rs397514418 GRCh37 Chromosome 3, 15686702: 15686702
99 BTD NM_000060.4(BTD): c.1352G> A (p.Gly451Asp) single nucleotide variant Pathogenic rs397514419 GRCh37 Chromosome 3, 15686715: 15686715
100 BTD NM_000060.4(BTD): c.1369G> A (p.Val457Met) single nucleotide variant Pathogenic rs146600671 GRCh37 Chromosome 3, 15686732: 15686732
101 BTD NM_000060.4(BTD): c.1384delA (p.Arg462Glyfs) deletion Pathogenic rs397514420 GRCh37 Chromosome 3, 15686747: 15686747
102 BTD NM_000060.4(BTD): c.1388G> A (p.Cys463Tyr) single nucleotide variant Pathogenic rs397514421 GRCh37 Chromosome 3, 15686751: 15686751
103 BTD NM_000060.4(BTD): c.1432G> C (p.Ala478Pro) single nucleotide variant Pathogenic rs181396238 GRCh37 Chromosome 3, 15686795: 15686795
104 BTD NM_000060.4(BTD): c.1455C> G (p.His485Gln) single nucleotide variant Pathogenic rs201604102 GRCh37 Chromosome 3, 15686818: 15686818
105 BTD NM_000060.4(BTD): c.1619A> G (p.Tyr540Cys) single nucleotide variant Pathogenic rs397514431 GRCh37 Chromosome 3, 15686982: 15686982
106 BTD NM_000060.4(BTD): c.1459T> C (p.Trp487Arg) single nucleotide variant Pathogenic rs397514422 GRCh37 Chromosome 3, 15686822: 15686822
107 BTD NM_000060.4(BTD): c.1459delT (p.Trp487Glyfs) deletion Pathogenic/Likely pathogenic rs397514423 GRCh37 Chromosome 3, 15686822: 15686822
108 BTD NM_000060.4(BTD): c.1463G> A (p.Gly488Asp) single nucleotide variant Pathogenic rs397514424 GRCh37 Chromosome 3, 15686826: 15686826
109 BTD NM_000060.4(BTD): c.1489C> T (p.Pro497Ser) single nucleotide variant Pathogenic rs138818907 GRCh37 Chromosome 3, 15686852: 15686852
110 BTD NM_000060.4(BTD): c.1493dupT (p.Leu498Phefs) duplication Pathogenic rs397514425 GRCh37 Chromosome 3, 15686856: 15686856
111 BTD NM_000060.4(BTD): c.1511T> A (p.Met504Lys) single nucleotide variant Pathogenic rs397514426 GRCh37 Chromosome 3, 15686874: 15686874
112 BTD NM_000060.4(BTD): c.1531C> G (p.Gln511Glu) single nucleotide variant Pathogenic rs397514427 GRCh37 Chromosome 3, 15686894: 15686894
113 BTD NM_000060.4(BTD): c.1610G> A (p.Gly537Glu) single nucleotide variant Pathogenic rs397514428 GRCh37 Chromosome 3, 15686973: 15686973
114 BTD NM_000060.4(BTD): c.1613G> A (p.Arg538His) single nucleotide variant Pathogenic rs397514429 GRCh37 Chromosome 3, 15686976: 15686976
115 BTD NM_000060.4(BTD): c.1616dupT (p.Leu539Phefs) duplication Pathogenic rs397514430 GRCh37 Chromosome 3, 15686979: 15686979
116 BTD NM_000060.4(BTD): c.1627G> C (p.Asp543His) single nucleotide variant Pathogenic rs397514432 GRCh37 Chromosome 3, 15686990: 15686990
117 BTD NM_000060.4(BTD): c.664G> C (p.Asp222His) single nucleotide variant Pathogenic rs200337373 GRCh37 Chromosome 3, 15686027: 15686027
118 BTD NM_000060.4(BTD): c.1001T> A (p.Ile334Asn) single nucleotide variant Pathogenic rs397514433 GRCh37 Chromosome 3, 15686364: 15686364
119 BTD NM_000060.4(BTD): c.1432G> A (p.Ala478Thr) single nucleotide variant Pathogenic rs181396238 GRCh37 Chromosome 3, 15686795: 15686795
120 BTD NM_000060.4(BTD): c.629A> G (p.Tyr210Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397507174 GRCh37 Chromosome 3, 15685992: 15685992
121 BTD NM_000060.4(BTD): c.559C> T (p.Pro187Ser) single nucleotide variant Pathogenic rs397507173 GRCh37 Chromosome 3, 15685922: 15685922
122 BTD NM_000060.4(BTD): c.734G> A (p.Cys245Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs397507175 GRCh37 Chromosome 3, 15686097: 15686097
123 BTD NM_000060.4(BTD): c.326T> G (p.Val109Gly) single nucleotide variant Pathogenic rs397507172 GRCh37 Chromosome 3, 15683431: 15683431
124 BTD NM_000060.4(BTD): c.184G> A (p.Val62Met) single nucleotide variant Pathogenic rs397507170 GRCh37 Chromosome 3, 15677070: 15677070
125 BTD NM_000060.4(BTD): c.236G> A (p.Arg79His) single nucleotide variant Pathogenic rs397514343 GRCh37 Chromosome 3, 15677122: 15677122
126 BTD NM_000060.4(BTD): c.245C> A (p.Ala82Asp) single nucleotide variant Pathogenic rs397507171 GRCh37 Chromosome 3, 15677131: 15677131
127 BTD NM_000060.4(BTD): c.128A> G (p.His43Arg) single nucleotide variant Pathogenic rs146011150 GRCh37 Chromosome 3, 15677014: 15677014
128 BTD NM_000060.4(BTD): c.1394dupG (p.Leu466Serfs) duplication Pathogenic/Likely pathogenic rs397514440 GRCh37 Chromosome 3, 15686757: 15686757
129 BTD NM_000060.4(BTD): c.1158G> A (p.Trp386Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397514434 GRCh37 Chromosome 3, 15686521: 15686521
130 BTD NM_000060.4(BTD): c.1241_1252delATCTCCACGTCT (p.Tyr414_Val417del) deletion Pathogenic rs397514404 GRCh37 Chromosome 3, 15686604: 15686615
131 BTD NM_000060.4(BTD): c.192G> C (p.Glu64Asp) single nucleotide variant Pathogenic rs397514436 GRCh37 Chromosome 3, 15677078: 15677078
132 BTD NM_000060.4(BTD): c.518T> G (p.Leu173Arg) single nucleotide variant Pathogenic rs397514437 GRCh37 Chromosome 3, 15685881: 15685881
133 BTD NM_000060.4(BTD): c.758C> T (p.Pro253Leu) single nucleotide variant Pathogenic rs397514438 GRCh37 Chromosome 3, 15686121: 15686121
134 BTD NM_000060.4(BTD): c.1237G> A (p.Gly413Ser) single nucleotide variant Pathogenic rs374141881 GRCh37 Chromosome 3, 15686600: 15686600
135 BTD NM_000060.4(BTD): c.407dupA (p.Val137Glyfs) insertion Pathogenic rs397514439 GRCh37 Chromosome 3, 15683512: 15683512
136 BTD NM_000060.4(BTD): c.1508_1512delGGATG (p.Gly503Aspfs) deletion Pathogenic rs398123138 GRCh37 Chromosome 3, 15686871: 15686875
137 BTD NM_000060.4(BTD): c.257T> G (p.Met86Arg) single nucleotide variant Pathogenic rs587783002 GRCh37 Chromosome 3, 15677143: 15677143
138 BTD NM_000060.4(BTD): c.455C> G (p.Thr152Arg) single nucleotide variant Pathogenic rs587783003 GRCh37 Chromosome 3, 15683560: 15683560
139 BTD NM_000060.4(BTD): c.683A> G (p.Asp228Gly) single nucleotide variant Pathogenic rs587783004 GRCh37 Chromosome 3, 15686046: 15686046
140 BTD NM_000060.4(BTD): c.701C> T (p.Thr234Ile) single nucleotide variant Pathogenic rs587783005 GRCh37 Chromosome 3, 15686064: 15686064
141 BTD NM_000060.4(BTD): c.898A> C (p.Asn300His) single nucleotide variant Pathogenic/Likely pathogenic rs587783006 GRCh37 Chromosome 3, 15686261: 15686261
142 BTD NM_000060.4(BTD): c.1372dupT (p.Cys458Leufs) duplication Pathogenic rs587783007 GRCh37 Chromosome 3, 15686735: 15686735
143 BTD NM_000060.4(BTD): c.310-15delT deletion Pathogenic rs587783008 GRCh37 Chromosome 3, 15683400: 15683400
144 BTD NM_000060.4(BTD): c.202_205dupATCC (p.Leu69Hisfs) duplication Likely pathogenic rs786204672 GRCh37 Chromosome 3, 15677088: 15677091
145 BTD NM_000060.4(BTD) indel Likely pathogenic rs672601248 GRCh37 Chromosome 3, 15686590: 15686604
146 BTD NM_000060.4(BTD): c.1612C> A (p.Arg538Ser) single nucleotide variant Likely pathogenic rs80338686 GRCh37 Chromosome 3, 15686975: 15686975
147 BTD NM_000060.4(BTD): c.1410dupC (p.Cys471Leufs) duplication Pathogenic/Likely pathogenic rs886041559 GRCh37 Chromosome 3, 15686773: 15686773
148 BTD NM_000060.4(BTD): c.43A> T (p.Arg15Ter) single nucleotide variant Likely pathogenic rs143058480 GRCh38 Chromosome 3, 15601893: 15601893
149 BTD NM_000060.4(BTD): c.44+1G> A single nucleotide variant Likely pathogenic rs1057516440 GRCh38 Chromosome 3, 15601895: 15601895
150 BTD NM_000060.4(BTD): c.44+1G> C single nucleotide variant Likely pathogenic rs1057516440 GRCh38 Chromosome 3, 15601895: 15601895
151 BTD NM_000060.4(BTD): c.44+1G> T single nucleotide variant Likely pathogenic rs1057516440 GRCh37 Chromosome 3, 15643402: 15643402
152 BTD NM_000060.4(BTD): c.44+1delG deletion Likely pathogenic rs1057517114 GRCh37 Chromosome 3, 15643402: 15643402
153 BTD NM_000060.4(BTD): c.107dupA (p.Tyr36Terfs) duplication Likely pathogenic rs1057516812 GRCh38 Chromosome 3, 15635486: 15635486
154 BTD NM_000060.4(BTD): c.309+1G> T single nucleotide variant Likely pathogenic rs373249212 GRCh38 Chromosome 3, 15635689: 15635689
155 BTD NM_000060.4(BTD): c.372_375dupCATT (p.Tyr126Hisfs) duplication Likely pathogenic rs1057516223 GRCh38 Chromosome 3, 15641970: 15641973
156 BTD NM_000060.4(BTD): c.1129G> T (p.Glu377Ter) single nucleotide variant Likely pathogenic rs1057516252 GRCh38 Chromosome 3, 15644985: 15644985
157 BTD NM_000060.4(BTD): c.1170_1171dupTC (p.Pro391Leufs) duplication Likely pathogenic rs1057517256 GRCh38 Chromosome 3, 15645026: 15645027
158 BTD NM_000060.4(BTD): c.1307_1308delAG (p.Glu436Alafs) deletion Likely pathogenic rs1057517225 GRCh38 Chromosome 3, 15645163: 15645164
159 BTD NM_000060.4(BTD): c.1324delG (p.Val442Serfs) deletion Likely pathogenic rs1057517362 GRCh38 Chromosome 3, 15645180: 15645180

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 GeneCards Suite gene sharing:

(showing 6, show less)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.4 BTD HLCS LPL MCCC2 PCCB
2
Show member pathways
11.63 BTD HLCS LPL MCCC2 PCCB
3
Show member pathways
11.4 MCCC2 PCCB
4
Show member pathways
11.24 MCCC2 PCCB
5
Show member pathways
10.23 MCCC2 PCCB
6 9.43 BTD HLCS

GO Terms for Biotinidase Deficiency

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

(showing 1, show less)
id Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.8 BTD MCCC2 PCCB

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

(showing 3, show less)
id Name GO ID Score Top Affiliating Genes
1 response to glucose GO:0009749 9.16 EIF2B4 LPL
2 fatty acid biosynthetic process GO:0006633 8.96 LPL PCCB
3 biotin metabolic process GO:0006768 8.92 BTD HLCS MCCC2 PCCB

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

(showing 1, show less)
id Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 8.8 HLCS MCCC2 PCCB

Sources for Biotinidase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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