BIOT
MCID: BTN003
MIFTS: 64

Biotinidase Deficiency (BIOT) malady

Neuronal diseases, Skin diseases, Metabolic diseases categories

Summaries for Biotinidase Deficiency

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Biotinidase deficiency is an inherited disorder in which the body is not able to process the vitamin biotin properly. biotin, sometimes called vitamin h, is an important water-soluble vitamin (a vitamin that dissolves in water) that aids in the metabolism of fats, carbohydrates, and proteins. infants with biotinidase deficiency may have seizures, weak muscle tone, skin rashes, hair loss and delayed development. daily lifelong treatment with biotin supplements can prevent of manage these symptoms. biotinidase deficiency is caused by mutations in the btd gene. it is  inherited in an autosomal recessive fashion. last updated: 7/7/2011

MalaCards: Biotinidase Deficiency, also known as late-onset multiple carboxylase deficiency, is related to multiple carboxylase deficiency and holocarboxylase synthetase deficiency, and has symptoms including alopecia, chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis and myopia. An important gene associated with Biotinidase Deficiency is BTD (biotinidase), and among its related pathways are Biotin metabolism and Metabolism of vitamins and cofactors. The compounds multivitamin and 3-methylcrotonyl-coa have been mentioned in the context of this disorder. Affiliated tissues include skin, cerebellum and lung.

Disease Ontology:8 A multiple carboxylase deficiency that involves a deficiency in biotinidase.

Genetics Home Reference:21 Biotinidase deficiency is an inherited disorder in which the body is unable to reuse and recycle the vitamin biotin. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of certain enzymes that depend on biotin.

Wikipedia:63 Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from... more...

Description from OMIM:46 253260

GeneReviews summary for biotin

Aliases & Classifications for Biotinidase Deficiency

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42NIH Rare Diseases, 60UMLS, 8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 20GeneTests, 22GTR, 56SNOMED-CT, 34MeSH, 39NCIt, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
biotinidase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

biotinidase deficiency 8 9 63 19 42 21 46 10 44 48 60
late-onset multiple carboxylase deficiency 8 19 42 21 48
btd deficiency 8 42 21 48
late-onset biotin-responsive multiple carboxylase deficiency 19 42 21
biotinidase 9 20 22
juvenile-onset multiple carboxylase deficiency 8 48
carboxylase deficiency, multiple, late-onset 63 21
multiple carboxylase deficiency, late-onset 63 21
biotin deficiency 42 60
multiple carboxylase deficiency, juvenile-onset 60
deficiency of biotinidase 8
biot 21


External Ids:

Disease Ontology8 DOID:856
OMIM46 253260
SNOMED-CT56 124513002, 8808004
NCIt39 C84598
SNOMED-CT via Orphanet57 8808004
ICD10 via Orphanet26 E53.8

Related Diseases for Biotinidase Deficiency

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Biotinidase Deficiency:



Diseases related to biotinidase deficiency

Clinical Features for Biotinidase Deficiency

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46OMIM, 48Orphanet
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Clinical features from OMIM:

253260

Clinical synopsis from OMIM:

253260

Symptoms:

48 (show all 22)
  • alopecia
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • myopia
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • abnormal visual field/hemianopsia/hemianopia/scotoma/visual peripheral rim
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • cutaneous rash
  • chronic skin infection/ulcerations/ulcers/cancrum
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • ataxia/incoordination/trouble of the equilibrium
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • hypotonia
  • muscle weakness/flaccidity
  • hearing loss/hypoacusia/deafness
  • retinitis pigmentosa/retinal pigmentary changes
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • obnubilation/coma/lethargia/desorientation
  • dry/squaly skin/exfoliation
  • autosomal recessive inheritance

Drugs & Therapeutics for Biotinidase Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Biotinidase Deficiency

Drug clinical trials:

Search ClinicalTrials for Biotinidase Deficiency

Search NIH Clinical Center for Biotinidase Deficiency

Search CenterWatch for Biotinidase Deficiency

Genetic Tests for Biotinidase Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Biotinidase Deficiency:

id Genetic test Affiliating Genes
1 Biotinidase Deficiency20 22 BTD

Anatomical Context for Biotinidase Deficiency

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32MalaCards
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MalaCards organs/tissues related to Biotinidase Deficiency:

32
Skin, Cerebellum, Lung, Brain, Eye, Spinal cord, Pancreas, Liver

Animal Models for Biotinidase Deficiency or affiliated genes

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Publications for Biotinidase Deficiency

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50PubMed
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Articles related to Biotinidase Deficiency:

(show top 50)    (show all 193)
idTitleAuthorsYear
1
Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration. (22579707)
2012
2
Epilepsy in biotinidase deficiency after biotin treatment. (23430899)
2012
3
Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. (22698809)
2012
4
VACTERL association: a new case with biotinidase deficiency and annular pancreas. (22010814)
2012
5
Clinical utility gene card for: biotinidase deficiency. (22378278)
2012
6
Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have". (22241090)
2012
7
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder. (21051254)
2011
8
Epileptic encephalopathy due to partial biotinidase deficiency]. (20171151)
2010
9
Two unusual clinical and radiological presentations of biotinidase deficiency. (20153672)
2010
10
Analysis of mutations causing biotinidase deficiency. (20556795)
2010
11
Clinical issues and frequent questions about biotinidase deficiency. (20129807)
2010
12
Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency. (19728141)
2009
13
Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients. (18545994)
2008
14
Biotinidase deficiency. (18820388)
2008
15
Audiologic findings in children with biotinidase deficiency in Turkey. (17161472)
2007
16
Qualitative colorimetric ultramicroassay for the detection of biotinidase deficiency in newborns. (16480705)
2006
17
Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. (15776412)
2005
18
Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases. (16435182)
2005
19
Outcome in patients with profound biotinidase deficiency: relevance of newborn screening. (15230462)
2004
20
Optic neuropathy in biotinidase deficiency]. (15306966)
2004
21
Normalization of low biotinidase activity in a child with biotin deficiency after biotin supplementation. (14707523)
2003
22
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
23
Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies. (14628140)
2003
24
Seventeen novel mutations that cause profound biotinidase deficiency. (12359137)
2002
25
Biotinidase deficiency--a case report]. (12608316)
2002
26
Cutaneous and neurologic manifestations of biotinidase deficiency. (10849128)
2000
27
Delayed-onset profound biotinidase deficiency. (9506660)
1998
28
Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis. (9396567)
1997
29
Biotinidase deficiency: result of treatment with biotin from age 12 years. (10728214)
1997
30
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
31
Biotinylation of histones by human serum biotinidase: assessment of biotinyl-transferase activity in sera from normal individuals and children with biotinidase deficiency. (8593541)
1995
32
Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia. (8750607)
1995
33
Biotinidase deficiency: early neurological presentation. (8138076)
1994
34
Biotinidase deficiency in Scotland. (8050627)
1994
35
Characterization of seizures associated with biotinidase deficiency. (8327137)
1993
36
Cerebrospinal fluid organic acids in biotinidase deficiency. (7609439)
1993
37
Reversal of brain atrophy with biotin treatment in biotinidase deficiency. (8232780)
1993
38
Biotinidase deficiency. (1927696)
1991
39
Partial biotinidase deficiency associated with Coffin-Siris syndrome. (2373113)
1990
40
Biotinidase deficiency: a survey of 10 cases. (3196050)
1988
41
Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities. (3148068)
1988
42
Neurologic symptoms of biotinidase deficiency: possible explanation. (4033935)
1985
43
Long-term auditory and visual complications of biotinidase deficiency. (4054050)
1985
44
Biotinidase deficiency associated with renal loss of biocytin and biotin. (3925858)
1985
45
Biotinidase deficiency: initial clinical features and rapid diagnosis. (4073853)
1985
46
Biotinidase deficiency: factors responsible for the increased biotin requirement. (3930842)
1985
47
Detection of biocytin in urine of children with congenital biotinidase deficiency. (6438010)
1984
48
Phenotypic variation in biotinidase deficiency. (6875714)
1983
49
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. (6883721)
1983
50
Biotinidase deficiency in juvenile multiple carboxylase deficiency. (6135890)
1983

Genetic Variations for Biotinidase Deficiency

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Biotinidase Deficiency:

62
id Symbol AA change Variation ID SNP ID
1BTDp.Phe128ValVAR_005113
2BTDp.Ala171ThrVAR_005114rs13073139
3BTDp.Asp228TyrVAR_005115
4BTDp.His323ArgVAR_005116
5BTDp.Asp444HisVAR_005117rs13078881
6BTDp.Gly451AspVAR_005118
7BTDp.Gln456HisVAR_005119rs80338685
8BTDp.Thr532MetVAR_005120rs104893688
9BTDp.Arg538CysVAR_005121

Expression for genes affiliated with Biotinidase Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Biotinidase Deficiency

Search GEO for disease gene expression data for Biotinidase Deficiency.

Pathways for genes affiliated with Biotinidase Deficiency

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29KEGG, 53Reactome, 37NCBI BioSystems Database
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Pathways related to Biotinidase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5BTD, HLCS
2
Hide members
8.9HLCS, BTD, PCCB
3
Saturated fatty acid biosynthesis
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8.9PCCB, BTD, HLCS
4
Hide members
8.1PCCB, BTD, LPL, HLCS

Compounds for genes affiliated with Biotinidase Deficiency

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44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Biotinidase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1multivitamin449.6BTD, HLCS
23-methylcrotonyl-coa44 2410.6BTD, HLCS
3guanine44 11 2411.1LPL, HLCS
4carnitine449.0HLCS, LPL
5acyl-coa448.9HLCS, LPL, BTD
6acetyl-coa44 249.8LPL, HLCS
7fatty acid448.7HLCS, LPL, BTD
8lactate448.7BTD, LPL, HLCS
9biotin44 11 2410.3PCCB, BTD, LPL, HLCS

GO Terms for genes affiliated with Biotinidase Deficiency

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16Gene Ontology
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Biological processes related to Biotinidase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1biotin metabolic processGO:0067688.9PCCB, BTD, HLCS
2water-soluble vitamin metabolic processGO:0067678.8PCCB, BTD, HLCS
3vitamin metabolic processGO:0067668.6HLCS, BTD, PCCB
4small molecule metabolic processGO:0442818.1PCCB, BTD, LPL, HLCS

Products for genes affiliated with Biotinidase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Biotinidase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet