BIOT
MCID: BTN003
MIFTS: 54

Biotinidase Deficiency (BIOT) malady

Neuronal, Skin, Metabolic categories

Summaries for Biotinidase Deficiency

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 lipoprotein lipase deficiency and holocarboxylase synthetase deficiency, and has symptoms including hypotrichosis/atrichia/atrichiasis/scalp hairlessness, hypotonia and seizures/epilepsy/absences/spasms/status epilepticus. 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 brain, spinal cord and liver.

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

Description from OMIM:47 253260

GeneReviews summary for biotin

Aliases & Classifications for Biotinidase Deficiency

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
biotinidase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

biotinidase deficiency 8 9 64 19 43 21 47 10 45 49 61
late-onset multiple carboxylase deficiency 8 19 43 21 49
btd deficiency 8 43 21 49
late-onset biotin-responsive multiple carboxylase deficiency 19 43 21
biotinidase 9 20 22
juvenile-onset multiple carboxylase deficiency 8 49
carboxylase deficiency, multiple, late-onset 64 21
multiple carboxylase deficiency, late-onset 64 21
biotin deficiency 43 61
multiple carboxylase deficiency, juvenile-onset 61
deficiency of biotinidase 8
biot 21


External Ids:

Disease Ontology8 DOID:856
OMIM47 253260
SNOMED-CT57 124513002, 8808004
NCIt40 C84598
ICD10 via Orphanet26 E53.8

Related Diseases for Biotinidase Deficiency

Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to biotinidase deficiency

Clinical Features for Biotinidase Deficiency

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

253260

Clinical synopsis from OMIM:

253260

Symptoms:

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

Drugs & Therapeutics for Biotinidase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Biotinidase Deficiency:

id Genetic test Affiliating Genes
1 Biotinidase Deficiency20 22 BTD

Anatomical Context for Biotinidase Deficiency

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Biotinidase Deficiency:

33
Brain, Spinal cord, Liver, Pancreas, Skin

Animal Models for Biotinidase Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Biotinidase Deficiency

Sources:
51PubMed
See all sources

Articles related to Biotinidase Deficiency:

(show top 50)    (show all 193)
idTitleAuthorsYear
1
Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns. (24036022)
2013
2
High incidence of partial biotinidase deficiency cases in newborns of Greek origin. (23644139)
2013
3
Clinical utility gene card for: biotinidase deficiency. (22378278)
2012
4
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder. (21051254)
2011
5
Epileptic encephalopathy due to partial biotinidase deficiency]. (20171151)
2010
6
Two unusual clinical and radiological presentations of biotinidase deficiency. (20153672)
2010
7
Analysis of mutations causing biotinidase deficiency. (20556795)
2010
8
Clinical issues and frequent questions about biotinidase deficiency. (20129807)
2010
9
Biotinidase deficiency. (18820388)
2008
10
Spinal cord demyelination associated with biotinidase deficiency in 3 Chinese patients. (17621476)
2007
11
Hearing loss in biotinidase deficiency: genotype-phenotype correlation. (17382128)
2007
12
Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result. (15711955)
2005
13
Successful pregnancy in a treated patient with biotinidase deficiency. (16151912)
2005
14
Biotinidase deficiency: a treatable leukoencephalopathy. (15328559)
2004
15
Optic neuropathy in biotinidase deficiency]. (15306966)
2004
16
Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening. (12227467)
2002
17
Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency. (11865279)
2002
18
Seventeen novel mutations that cause profound biotinidase deficiency. (12359137)
2002
19
Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype. (11998918)
2002
20
Novel mutations in children with profound biotinidase deficiency from Saudi Arabia. (10801060)
2000
21
Prevalence study of biotinidase deficiency in newborns]. (9713119)
1998
22
Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency. (9705240)
1998
23
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
24
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. (9654207)
1998
25
Incidence of biotinidase deficiency in Turkish newborns. (9825985)
1998
26
Biotinidase deficiency: two cases of very early presentation. (9433861)
1997
27
Biotinidase deficiency with neurological features resembling multiple sclerosis. (9323568)
1997
28
Infantile spasms as the initial symptom of biotinidase deficiency. (8283357)
1994
29
Screening for biotinidase deficiency in some skin diseases. (7761790)
1994
30
Characterization of seizures associated with biotinidase deficiency. (8327137)
1993
31
Cerebrospinal fluid organic acids in biotinidase deficiency. (7609439)
1993
32
Cerebral metabolic change after treatment in biotinidase deficiency. (8412000)
1993
33
Ophthalmologic findings in biotinidase deficiency. (8278163)
1993
34
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
35
Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency. (1729884)
1992
36
Lipoamidase and biotinidase deficiency: evidence that lipoamidase and biotinidase are the same enzyme in human serum. (1599976)
1992
37
Statistical approaches for the detection of heterozygotes for biotinidase deficiency. (1877614)
1991
38
Biotinidase deficiency. Results of neonatal screening 1985-1989 in Lower Saxony]. (1896047)
1991
39
Screening for biotinidase deficiency in children with unexplained neurologic or developmental abnormalities. (1706649)
1991
40
Partial biotinidase deficiency: clinical and biochemical features. (2295967)
1990
41
Comparison of patients with complete and partial biotinidase deficiency: biochemical studies. (2109151)
1990
42
Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn. (2502673)
1989
43
Basal ganglia calcifications in a case of biotinidase deficiency. (3399084)
1988
44
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease. (3762868)
1986
45
Neurologic symptoms of biotinidase deficiency: possible explanation. (4033935)
1985
46
Long-term auditory and visual complications of biotinidase deficiency. (4054050)
1985
47
Biotinidase deficiency: a novel vitamin recycling defect. (3930841)
1985
48
Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin. (6434862)
1984
49
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. (6883721)
1983
50
Biotinidase deficiency and the eye and ear. (6137736)
1983

Genetic Variations for Biotinidase Deficiency

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Biotinidase Deficiency:

63
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 54Reactome, 38NCBI BioSystems Database
See all sources

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
Hide members
8.9PCCB, BTD, HLCS
4
Hide members
8.1PCCB, BTD, LPL, HLCS

Compounds for genes affiliated with Biotinidase Deficiency

Sources:
45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Biotinidase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1multivitamin459.6BTD, HLCS
23-methylcrotonyl-coa45 2410.6BTD, HLCS
3guanine45 11 2411.1LPL, HLCS
4carnitine459.0HLCS, LPL
5acyl-coa458.9HLCS, LPL, BTD
6acetyl-coa45 249.8LPL, HLCS
7fatty acid458.7HLCS, LPL, BTD
8lactate458.7BTD, LPL, HLCS
9biotin45 11 2410.3PCCB, BTD, LPL, HLCS

GO Terms for genes affiliated with Biotinidase Deficiency

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Biotinidase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet