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
Biotinidase deficiency: Novel mutations in Algerian patients. (23481307)
2014
2
Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns. (24036022)
2013
3
Diagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan. (24169397)
2013
4
Hair-shaft abnormality in a 7-year-old girl. Trichorrhexis nodosa dueto biotinidase deficiency. (23552716)
2013
5
Biotinidase deficiency--clinching the diagnosis rapidly can make all the difference! (22679321)
2011
6
Peculiar neuroimaging and electrophysiological findings in a patient with biotinidase deficiency. (21123088)
2011
7
Profound biotinidase deficiency: a rare disease among native Swedes. (20224900)
2010
8
Biotinidase deficiency with hypertonia as unusual feature. (19179722)
2009
9
Profound biotinidase deficiency in a child with predominantly spinal cord disease. (18645204)
2008
10
Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary. (17185019)
2007
11
Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation. (17092467)
2006
12
Emergency department presentation of biotinidase deficiency: fulminant sepsis in a 4-year-old Hispanic male. (14716165)
2004
13
Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations. (15060693)
2004
14
Biotinidase Deficiency: New Directions and Practical Concerns. (12791199)
2003
15
Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies. (14707518)
2003
16
Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness. (11952077)
2002
17
Biotinidase deficiency and eye]. (12608322)
2002
18
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. (11388594)
2001
19
Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation. (11313766)
2001
20
Novel mutations cause biotinidase deficiency in Turkish children. (10801053)
2000
21
Novel mutations in children with profound biotinidase deficiency from Saudi Arabia. (10801060)
2000
22
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
23
Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency. (9705240)
1998
24
Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States. (9232193)
1997
25
Late presentation of biotinidase deficiency with acute visual loss and gait disturbance. (9433860)
1997
26
Screening for biotinidase deficiency in some skin diseases. (7761790)
1994
27
Biotinidase deficiency. Progressive encephalopathy curable with biotin]. (8053766)
1993
28
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
29
Neonatal screening for biotinidase deficiency. (1503382)
1992
30
Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency. (1729884)
1992
31
Lipoamidase and biotinidase deficiency: evidence that lipoamidase and biotinidase are the same enzyme in human serum. (1599976)
1992
32
Statistical approaches for the detection of heterozygotes for biotinidase deficiency. (1877614)
1991
33
Biotinidase deficiency. Results of neonatal screening 1985-1989 in Lower Saxony]. (1896047)
1991
34
Worldwide survey of neonatal screening for biotinidase deficiency. (1779651)
1991
35
Partial biotinidase deficiency: clinical and biochemical features. (2295967)
1990
36
Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome. (2587127)
1989
37
Simon has biotinidase deficiency. (3195302)
1988
38
"Cerebral" lactic acidosis and biotinidase deficiency. (3234447)
1988
39
Neonatal screening for biotinidase deficiency in north eastern Italy. (3391228)
1988
40
A qualitative assessment of biotinidase deficiency. (3500673)
1987
41
Sudden death associated with biotinidase deficiency. (3822661)
1987
42
Multiple carboxylase deficiency due to deficiency of biotinidase. (3783319)
1986
43
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease. (3762868)
1986
44
Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program. (4000223)
1985
45
Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency. (3930850)
1985
46
Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin. (6434862)
1984
47
Potential for prenatal diagnosis of biotinidase deficiency. (6483793)
1984
48
Biotinidase deficiency: the possible role of biotinidase in the processing of dietary protein-bound biotin. (6434861)
1984
49
Biotinidase deficiency and the eye and ear. (6137736)
1983
50
Deficient liver biotinidase activity in multiple carboxylase deficiency. (6135889)
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
Hide members
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