BIOT
MCID: BTN003
MIFTS: 63

Biotinidase Deficiency (BIOT) malady

Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Metabolic diseases categories
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Summaries for Biotinidase Deficiency

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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 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 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 Fatty acid, triacylglycerol, and ketone body metabolism. 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:65 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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Sources:
8Disease Ontology, 9diseasecard, 65Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 20GeneTests, 22GTR, 57SNOMED-CT, 39NCIt, 34MeSH, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet
See all sources

Biotinidase Deficiency, Aliases & Descriptions:

Name: Biotinidase Deficiency 8 9 65 19 42 21 46 10 44 48 62
Late-Onset Multiple Carboxylase Deficiency 8 19 42 21 48
Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency 19 42 21 62
Btd Deficiency 8 42 21 48
Multiple Carboxylase Deficiency, Late-Onset 65 21 62
Biotinidase 9 20 22
 
Juvenile-Onset Multiple Carboxylase Deficiency 8 48
Carboxylase Deficiency, Multiple, Late-Onset 65 21
Deficiency of Biotinidase 8 62
Biotin Deficiency 42 62
Multiple Carboxylase Deficiency, Juvenile-Onset 62
Biot 21


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:856
OMIM46 253260
NCIt39 C84598
SNOMED-CT57 8808004, 124513002
ICD10 via Orphanet26 E53.8
UMLS via Orphanet63 C0220754
MESH via Orphanet35 D028921

Related Diseases for Biotinidase Deficiency

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



Diseases related to biotinidase deficiency

Symptoms for Biotinidase Deficiency

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Symptoms by clinical synopsis from OMIM:

253260

Clinical features from OMIM:

253260

Symptoms:

48 (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

HPO human phenotypes related to Biotinidase Deficiency:

(show all 44)
id Description Frequency HPO Source Accession
1 seizures hallmark (90%) HP:0001250
2 muscular hypotonia hallmark (90%) HP:0001252
3 hearing impairment typical (50%) HP:0000365
4 optic atrophy typical (50%) HP:0000648
5 dry skin typical (50%) HP:0000958
6 skin rash typical (50%) HP:0000988
7 alopecia typical (50%) HP:0001596
8 incoordination typical (50%) HP:0002311
9 inflammatory abnormality of the eye typical (50%) HP:0100533
10 myopia occasional (7.5%) HP:0000545
11 visual field defect occasional (7.5%) HP:0001123
12 hypertonia occasional (7.5%) HP:0001276
13 muscle weakness occasional (7.5%) HP:0001324
14 respiratory insufficiency occasional (7.5%) HP:0002093
15 reduced consciousness/confusion occasional (7.5%) HP:0004372
16 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
17 abnormal retinal pigmentation occasional (7.5%) HP:0007703
18 skin ulcer occasional (7.5%) HP:0200042
19 autosomal recessive inheritance HP:0000007
20 sensorineural hearing impairment HP:0000407
21 conjunctivitis HP:0000509
22 visual loss HP:0000572
23 optic atrophy HP:0000648
24 skin rash HP:0000988
25 seborrheic dermatitis HP:0001051
26 seizures HP:0001250
27 ataxia HP:0001251
28 muscular hypotonia HP:0001252
29 lethargy HP:0001254
30 global developmental delay HP:0001263
31 recurrent skin infections HP:0001581
32 alopecia HP:0001596
33 splenomegaly HP:0001744
34 hyperammonemia HP:0001987
35 organic aciduria HP:0001992
36 vomiting HP:0002013
37 diarrhea HP:0002014
38 apnea HP:0002104
39 hepatomegaly HP:0002240
40 diffuse cerebral atrophy HP:0002506
41 tachypnea HP:0002789
42 metabolic ketoacidosis HP:0005979
43 feeding difficulties in infancy HP:0008872
44 diffuse cerebellar atrophy HP:0100275

Drugs & Therapeutics for Biotinidase Deficiency

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Drug clinical trials:

Search ClinicalTrials for Biotinidase Deficiency

Search NIH Clinical Center for Biotinidase Deficiency

Genetic Tests for Biotinidase Deficiency

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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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MalaCards organs/tissues related to Biotinidase Deficiency:

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

Animal Models for Biotinidase Deficiency or affiliated genes

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Publications for Biotinidase Deficiency

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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
Biotinidase deficiency: an atypical presentation. (24066991)
2013
3
Diagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan. (24169397)
2013
4
Biotinidase deficiency in childhood. (24005734)
2013
5
High incidence of partial biotinidase deficiency cases in newborns of Greek origin. (23644139)
2013
6
Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration. (22579707)
2012
7
A girl with spastic tetraparesis associated with biotinidase deficiency. (21571559)
2011
8
Epileptic encephalopathy due to partial biotinidase deficiency]. (20171151)
2010
9
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
10
Profound biotinidase deficiency: a rare disease among native Swedes. (20224900)
2010
11
Brain diffusion-weighted and diffusion tensor imaging findings in an infant with biotinidase deficiency. (19509076)
2009
12
Profound biotinidase deficiency in a child with predominantly spinal cord disease. (18645204)
2008
13
Spinal cord demyelination associated with biotinidase deficiency in 3 Chinese patients. (17621476)
2007
14
Qualitative colorimetric ultramicroassay for the detection of biotinidase deficiency in newborns. (16480705)
2006
15
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency. (15877202)
2005
16
Biotinidase deficiency: a treatable leukoencephalopathy. (15328559)
2004
17
Outcome in patients with profound biotinidase deficiency: relevance of newborn screening. (15230462)
2004
18
Biotinidase Deficiency: New Directions and Practical Concerns. (12791199)
2003
19
Screening for congenital hypothyroidism, phenylketonuria, galactosemia and biotinidase deficiency in a sample of mentally retarded patients in the city of Havana]. (12766862)
2003
20
Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening. (12227467)
2002
21
Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency. (11865279)
2002
22
Mutations in BTD causing biotinidase deficiency. (11668630)
2001
23
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. (11388594)
2001
24
Cutaneous and neurologic manifestations of biotinidase deficiency. (10849128)
2000
25
Biotinidase deficiency--a treatable entity. (10932969)
2000
26
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
27
Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses. (9516011)
1998
28
Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis. (9396567)
1997
29
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
30
Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States. (9232193)
1997
31
Normalisation of severe cranial CT scan abnormalities after biotin in a case of biotinidase deficiency. (7843204)
1994
32
Infantile spasms as the initial symptom of biotinidase deficiency. (8283357)
1994
33
Biotinidase deficiency: early neurological presentation. (8138076)
1994
34
Biotinidase deficiency. Progressive encephalopathy curable with biotin]. (8053766)
1993
35
Characterization of seizures associated with biotinidase deficiency. (8327137)
1993
36
Cerebrospinal fluid organic acids in biotinidase deficiency. (7609439)
1993
37
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
38
Neonatal screening for biotinidase deficiency. (1503382)
1992
39
Statistical approaches for the detection of heterozygotes for biotinidase deficiency. (1877614)
1991
40
Biotinidase deficiency. (1927696)
1991
41
Rat as a potential model for hearing loss in biotinidase deficiency. (2018287)
1991
42
Partial biotinidase deficiency: clinical and biochemical features. (2295967)
1990
43
Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]. (2356250)
1990
44
Comparison of patients with complete and partial biotinidase deficiency: biochemical studies. (2109151)
1990
45
Biotinidase deficiency: a survey of 10 cases. (3196050)
1988
46
Screening for biotinidase deficiency. (3702961)
1986
47
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease. (3762868)
1986
48
Neurologic symptoms of biotinidase deficiency: possible explanation. (4033935)
1985
49
Long-term auditory and visual complications of biotinidase deficiency. (4054050)
1985
50
Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program. (4000223)
1985

Variations for Biotinidase Deficiency

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

64
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

Clinvar genetic disease variations for Biotinidase Deficiency:

6 (show all 161)
id Gene Name Type Significance SNP ID Assembly Location
1BTDNM_000060.3(BTD): c.98_104delGCGGCTGinsTCC (p.Cys33Phefs)indelPathogenicrs80338684GRCh37Chr 3, 15676984: 15676990
2BTDBTD, 15-BP DEL/11-BP INSindelPathogenic
3BTDNM_000060.3(BTD): c.1595C> T (p.Thr532Met)single nucleotide variantPathogenicrs104893688GRCh37Chr 3, 15686958: 15686958
4BTDNM_000060.3(BTD): c.1612C> T (p.Arg538Cys)single nucleotide variantPathogenicrs80338686GRCh37Chr 3, 15686975: 15686975
5BTDNM_000060.3(BTD): c.100G> A (p.Gly34Ser)single nucleotide variantPathogenicrs119103232GRCh37Chr 3, 15676986: 15676986
6BTDNM_000060.3(BTD): c.1330G> C (p.Asp444His)single nucleotide variantPathogenicrs13078881GRCh37Chr 3, 15686693: 15686693
7BTDNM_000060.3(BTD): c.755A> G (p.Asp252Gly)single nucleotide variantPathogenicrs28934601GRCh37Chr 3, 15686118: 15686118
8BTDNM_000060.3(BTD): c.1368A> C (p.Gln456His)single nucleotide variantPathogenicrs80338685GRCh37Chr 3, 15686731: 15686731
9BTDNM_000060.3(BTD): c.1466A> C (p.Asn489Thr)single nucleotide variantPathogenicrs104893692GRCh37Chr 3, 15686829: 15686829
10BTDNM_000060.3(BTD): c.1330G> C (p.Asp444His)single nucleotide variantPathogenicrs13078881GRCh37Chr 3, 15686693: 15686693
11BTDNM_000060.3(BTD): c.235C> T (p.Arg79Cys)single nucleotide variantPathogenicrs104893687GRCh37Chr 3, 15677121: 15677121
12BTDNM_000060.3(BTD): c.1157G> A (p.Trp386Ter)single nucleotide variantPathogenicrs397514401GRCh37Chr 3, 15686520: 15686520
13BTDNM_000060.3(BTD): c.133G> A (p.Gly45Arg)single nucleotide variantPathogenicrs34885143GRCh37Chr 3, 15677019: 15677019
14BTDNM_000060.3(BTD): c.133G> A (p.Gly45Arg)single nucleotide variantPathogenicrs34885143GRCh37Chr 3, 15677019: 15677019
15BTDNM_000060.3(BTD): c.136G> T (p.Glu46Ter)single nucleotide variantPathogenicrs397514336GRCh37Chr 3, 15677022: 15677022
16BTDNM_000060.3(BTD): c.159C> A (p.His53Gln)single nucleotide variantPathogenicrs397514337GRCh37Chr 3, 15677045: 15677045
17BTDNM_000060.3(BTD): c.171T> G (p.Tyr57Ter)single nucleotide variantPathogenicrs397514339GRCh37Chr 3, 15677057: 15677057
18BTDNM_000060.3(BTD): c.184G> T (p.Val62Leu)single nucleotide variantPathogenicrs397507170GRCh37Chr 3, 15677070: 15677070
19BTDNM_000060.3(BTD): c.190G> A (p.Glu64Lys)single nucleotide variantPathogenicrs397514340GRCh37Chr 3, 15677076: 15677076
20BTDH65fsinsertionPathogenic
21BTDNM_000060.3(BTD): c.194A> G (p.His65Arg)single nucleotide variantPathogenicrs397514341GRCh37Chr 3, 15677080: 15677080
22BTDNM_000060.3(BTD): c.245C> T (p.Ala82Val)single nucleotide variantPathogenicrs397507171GRCh37Chr 3, 15677131: 15677131
23BTDNM_000060.3(BTD): c.246_254delCTTGGAGCT (p.Leu83_Leu85del)deletionPathogenicrs397514346GRCh37Chr 3, 15677132: 15677140
24BTDNM_000060.3(BTD): c.248T> C (p.Leu83Ser)single nucleotide variantPathogenicrs397514347GRCh37Chr 3, 15677134: 15677134
25BTDNM_000060.3(BTD): c.262C> T (p.Gln88Ter)single nucleotide variantPathogenicrs151071780GRCh37Chr 3, 15677148: 15677148
26BTDNM_000060.3(BTD): c.278A> G (p.Tyr93Cys)single nucleotide variantPathogenicrs397514348GRCh37Chr 3, 15677164: 15677164
27BTDNM_000060.3(BTD): c.1330G> C (p.Asp444His)single nucleotide variantPathogenicrs13078881GRCh37Chr 3, 15686693: 15686693
28BTDNM_000060.3(BTD): c.298G> A (p.Ala100Thr)single nucleotide variantPathogenicrs397514350GRCh37Chr 3, 15677184: 15677184
29BTDNM_000060.3(BTD): c.310G> T (p.Asp104Tyr)single nucleotide variantPathogenicrs397514351GRCh37Chr 3, 15683415: 15683415
30BTDNM_000060.3(BTD): c.334G> C (p.Glu112Gln)single nucleotide variantPathogenicrs397514352GRCh37Chr 3, 15683439: 15683439
31BTDNM_000060.3(BTD): c.334G> A (p.Glu112Lys)single nucleotide variantPathogenicrs397514352GRCh37Chr 3, 15683439: 15683439
32BTDNM_000060.3(BTD): c.341G> T (p.Gly114Val)single nucleotide variantPathogenicrs375712490GRCh37Chr 3, 15683446: 15683446
33BTDNM_000060.3(BTD): c.356A> G (p.Asn119Ser)single nucleotide variantPathogenicrs397514353GRCh37Chr 3, 15683461: 15683461
34BTDNM_000060.3(BTD): c.364A> G (p.Arg122Gly)single nucleotide variantPathogenicrs397514354GRCh37Chr 3, 15683469: 15683469
35BTDNM_000060.3(BTD): c.382T> G (p.Phe128Val)single nucleotide variantPathogenicrs397514355GRCh37Chr 3, 15683487: 15683487
36BTDNM_000060.3(BTD): c.393delC (p.Phe131Leufs)deletionPathogenicrs397514356GRCh37Chr 3, 15683498: 15683498
37BTDNM_000060.3(BTD): c.424C> A (p.Pro142Thr)single nucleotide variantPathogenicrs397514357GRCh37Chr 3, 15683529: 15683529
38BTDNM_000060.3(BTD): c.443G> A (p.Arg148His)single nucleotide variantPathogenicrs367902696GRCh37Chr 3, 15683548: 15683548
39BTDNM_000060.3(BTD): c.445T> C (p.Phe149Leu)single nucleotide variantPathogenicrs397514359GRCh37Chr 3, 15683550: 15683550
40BTDNM_000060.3(BTD): c.454A> C (p.Thr152Pro)single nucleotide variantPathogenicrs374681173GRCh37Chr 3, 15683559: 15683559
41BTDNM_000060.3(BTD): c.459G> A (p.Glu153Glu=)single nucleotide variantPathogenicrs397514360GRCh37Chr 3, 15683564: 15683564
42BTDNM_000060.3(BTD): c.466C> T (p.Gln156Ter)single nucleotide variantPathogenicrs397514362GRCh37Chr 3, 15685829: 15685829
43BTDNM_000060.3(BTD): c.469C> T (p.Arg157Cys)single nucleotide variantPathogenicrs397514363GRCh37Chr 3, 15685832: 15685832
44BTDNM_000060.3(BTD): c.485C> T (p.Ala162Val)single nucleotide variantPathogenicrs397514364GRCh37Chr 3, 15685848: 15685848
45BTDNM_000060.3(BTD): c.490_491delAG (p.Arg164Glyfs)deletionPathogenicrs397514365GRCh37Chr 3, 15685853: 15685854
46BTDNM_000060.3(BTD): c.1330G> C (p.Asp444His)single nucleotide variantPathogenicrs13078881GRCh37Chr 3, 15686693: 15686693
47BTDNM_000060.3(BTD): c.515A> G (p.Asn172Ser)single nucleotide variantPathogenicrs397514366GRCh37Chr 3, 15685878: 15685878
48BTDNM_000060.3(BTD): c.528G> T (p.Lys176Asn)single nucleotide variantPathogenicrs397514367GRCh37Chr 3, 15685891: 15685891
49BTDNM_000060.3(BTD): c.544delA (p.Ser182Valfs)deletionPathogenicrs397514368GRCh37Chr 3, 15685907: 15685907
50BTDNM_000060.3(BTD): c.557G> A (p.Cys186Tyr)single nucleotide variantLikely pathogenicrs397514369GRCh37Chr 3, 15685920: 15685920
51BTDNM_000060.3(BTD): c.583A> G (p.Asn195Asp)single nucleotide variantPathogenicrs397514370GRCh37Chr 3, 15685946: 15685946
52BTDNM_000060.3(BTD): c.584A> G (p.Asn195Ser)single nucleotide variantPathogenicrs397514371GRCh37Chr 3, 15685947: 15685947
53BTDNM_000060.3(BTD): c.587C> G (p.Thr196Arg)single nucleotide variantPathogenicrs397514372GRCh37Chr 3, 15685950: 15685950
54BTDNM_000060.3(BTD): c.594_596delCGT (p.Val199del)deletionPathogenicrs397514373GRCh37Chr 3, 15685957: 15685959
55BTDNM_000060.3(BTD): c.594delC (p.Val199Cysfs)deletionPathogenicrs397514374GRCh37Chr 3, 15685957: 15685957
56BTDNM_000060.3(BTD): c.595G> A (p.Val199Met)single nucleotide variantPathogenicrs397514375GRCh37Chr 3, 15685958: 15685958
57BTDNM_000060.3(BTD): c.605A> T (p.Asn202Ile)single nucleotide variantPathogenicrs397514376GRCh37Chr 3, 15685968: 15685968
58BTDNM_000060.3(BTD): c.631C> T (p.Arg211Cys)single nucleotide variantPathogenicrs372844636GRCh37Chr 3, 15685994: 15685994
59BTDNM_000060.3(BTD): c.632G> A (p.Arg211His)single nucleotide variantPathogenicrs112195009GRCh37Chr 3, 15685995: 15685995
60BTDNM_000060.3(BTD): c.1330G> C (p.Asp444His)single nucleotide variantPathogenicrs13078881GRCh37Chr 3, 15686693: 15686693
61BTDNM_000060.3(BTD): c.643C> T (p.Leu215Phe)single nucleotide variantPathogenicrs190386869GRCh37Chr 3, 15686006: 15686006
62BTDNM_000060.3(BTD): c.652G> C (p.Glu218Gln)single nucleotide variantPathogenicrs397514378GRCh37Chr 3, 15686015: 15686015
63BTDNM_000060.3(BTD): c.654G> C (p.Glu218Asp)single nucleotide variantPathogenicrs397514379GRCh37Chr 3, 15686017: 15686017
64BTDNM_000060.3(BTD): c.682G> T (p.Asp228Tyr)single nucleotide variantPathogenicrs397514380GRCh37Chr 3, 15686045: 15686045
65BTDNM_000060.3(BTD): c.709G> A (p.Ala237Thr)single nucleotide variantPathogenicrs397514381GRCh37Chr 3, 15686072: 15686072
66BTDNM_000060.3(BTD): c.743T> C (p.Ile248Thr)single nucleotide variantPathogenicrs397514382GRCh37Chr 3, 15686106: 15686106
67BTDNM_000060.3(BTD): c.757C> T (p.Pro253Ser)single nucleotide variantPathogenicrs397514383GRCh37Chr 3, 15686120: 15686120
68BTDNM_000060.3(BTD): c.764T> C (p.Ile255Thr)single nucleotide variantPathogenicrs397514384GRCh37Chr 3, 15686127: 15686127
69BTDNM_000060.3(BTD): c.794A> T (p.His265Leu)single nucleotide variantPathogenicrs397514385GRCh37Chr 3, 15686157: 15686157
70BTDNM_000060.3(BTD): c.794A> T (p.His265Leu)single nucleotide variantPathogenicrs397514385GRCh37Chr 3, 15686157: 15686157
71BTDNM_000060.3(BTD): c.814T> G (p.Trp272Gly)single nucleotide variantPathogenicrs397514387GRCh37Chr 3, 15686177: 15686177
72BTDNM_000060.3(BTD): c.832C> G (p.Leu278Val)single nucleotide variantPathogenicrs397514388GRCh37Chr 3, 15686195: 15686195
73BTDNM_000060.3(BTD): c.833T> C (p.Leu278Pro)single nucleotide variantPathogenicrs397514389GRCh37Chr 3, 15686196: 15686196
74BTDNM_000060.3(BTD): c.836T> G (p.Leu279Trp)single nucleotide variantPathogenicrs397514390GRCh37Chr 3, 15686199: 15686199
75BTDNM_000060.3(BTD): c.880A> G (p.Ile294Val)single nucleotide variantPathogenicrs35976361GRCh37Chr 3, 15686243: 15686243
76BTDNM_000060.3(BTD): c.887T> G (p.Val296Gly)single nucleotide variantPathogenicrs397514391GRCh37Chr 3, 15686250: 15686250
77BTDNM_000060.3(BTD): c.896C> T (p.Ala299Val)single nucleotide variantPathogenicrs397514392GRCh37Chr 3, 15686259: 15686259
78BTDNM_000060.3(BTD): c.929G> A (p.Gly310Glu)single nucleotide variantPathogenicrs397514393GRCh37Chr 3, 15686292: 15686292
79BTDNM_000060.3(BTD): c.932G> A (p.Ser311Asn)single nucleotide variantPathogenicrs397514394GRCh37Chr 3, 15686295: 15686295
80BTDNM_000060.3(BTD): c.933delT (p.Ser311Argfs)deletionPathogenicrs397514395GRCh37Chr 3, 15686296: 15686296
81BTDNM_000060.3(BTD): c.933T> G (p.Ser311Arg)single nucleotide variantPathogenicrs397514386GRCh37Chr 3, 15686296: 15686296
82BTDNM_000060.3(BTD): c.934G> A (p.Gly312Ser)single nucleotide variantPathogenicrs397514396GRCh37Chr 3, 15686297: 15686297
83BTDNM_000060.3(BTD): c.935G> A (p.Gly312Asp)single nucleotide variantPathogenicrs377651057GRCh37Chr 3, 15686298: 15686298
84BTDNM_000060.3(BTD): c.1049delC (p.Ala350Glufs)deletionPathogenicrs397514397GRCh37Chr 3, 15686412: 15686412
85BTDNM_000060.3(BTD): c.1052delC (p.Thr351Lysfs)deletionPathogenicrs397514398GRCh37Chr 3, 15686415: 15686415
86BTDNM_000060.3(BTD): c.1096T> C (p.Ser366Pro)single nucleotide variantPathogenicrs397514399GRCh37Chr 3, 15686459: 15686459
87BTDNM_000060.3(BTD): c.1106C> T (p.Pro369Leu)single nucleotide variantPathogenicrs397514400GRCh37Chr 3, 15686469: 15686469
88BTDNM_000060.3(BTD): c.1191_1192delGA (p.Glu397Aspfs)deletionPathogenicrs397514403GRCh37Chr 3, 15686554: 15686555
89BTDNM_000060.3(BTD): c.1205A> G (p.Asn402Ser)single nucleotide variantPathogenicrs201023772GRCh37Chr 3, 15686568: 15686568
90BTDNM_000060.3(BTD): c.1211C> T (p.Thr404Ile)single nucleotide variantPathogenicrs397514405GRCh37Chr 3, 15686574: 15686574
91BTDNM_000060.3(BTD): c.1214T> C (p.Leu405Pro)single nucleotide variantPathogenicrs397514406GRCh37Chr 3, 15686577: 15686577
92BTDNM_000060.3: c.1227_1241delGGGAAAGGAAGGCTAins11indelPathogenicGRCh37Chr 3, 15686590: 15686604
93BTDNM_000060.3(BTD): c.1239delC (p.Tyr414Ilefs)deletionPathogenicrs397514407GRCh37Chr 3, 15686602: 15686602
94BTDNM_000060.3(BTD): c.1252T> C (p.Cys418Arg)single nucleotide variantPathogenicrs397514408GRCh37Chr 3, 15686615: 15686615
95BTDNM_000060.3(BTD): c.1249G> T (p.Val417Phe)single nucleotide variantPathogenicrs397514409GRCh37Chr 3, 15686612: 15686612
96BTDNM_000060.3(BTD): c.1253G> C (p.Cys418Ser)single nucleotide variantPathogenicrs397514410GRCh37Chr 3, 15686616: 15686616
97BTDNM_000060.3(BTD): c.1264dupC (p.Leu422Profs)duplicationPathogenicrs397514411GRCh37Chr 3, 15686627: 15686627
98BTDNM_000060.3(BTD): c.1267T> C (p.Cys423Arg)single nucleotide variantPathogenicrs397514412GRCh37Chr 3, 15686630: 15686630
99BTDNM_000060.3(BTD): c.1268G> C (p.Cys423Ser)single nucleotide variantPathogenicrs397514413GRCh37Chr 3, 15686631: 15686631
100BTDNM_000060.3(BTD): c.1271G> A (p.Cys424Tyr)single nucleotide variantPathogenicrs397514335GRCh37Chr 3, 15686634: 15686634
101BTDNM_000060.3(BTD): c.1271G> C (p.Cys424Ser)single nucleotide variantPathogenicrs397514335GRCh37Chr 3, 15686634: 15686634
102BTDNM_000060.3(BTD): c.1275T> G (p.Tyr425Ter)single nucleotide variantPathogenicrs397514414GRCh37Chr 3, 15686638: 15686638
103BTDNM_000060.3(BTD): c.1284C> A (p.Tyr428Ter)single nucleotide variantPathogenicrs35145938GRCh37Chr 3, 15686647: 15686647
104BTDNM_000060.3(BTD): c.1313A> G (p.Tyr438Cys)single nucleotide variantPathogenicrs397514415GRCh37Chr 3, 15686676: 15686676
105BTDNM_000060.3(BTD): c.1314T> A (p.Tyr438Ter)single nucleotide variantPathogenicrs397514416GRCh37Chr 3, 15686677: 15686677
106BTDNM_000060.3(BTD): c.1333G> A (p.Gly445Arg)single nucleotide variantPathogenicrs397514417GRCh37Chr 3, 15686696: 15686696
107BTDNM_000060.3(BTD): c.1334G> T (p.Gly445Val)single nucleotide variantPathogenicrs397514402GRCh37Chr 3, 15686697: 15686697
108BTDNM_000060.3(BTD): c.1339C> T (p.His447Tyr)single nucleotide variantPathogenicrs397514418GRCh37Chr 3, 15686702: 15686702
109BTDNM_000060.3(BTD): c.1352G> A (p.Gly451Asp)single nucleotide variantPathogenicrs397514419GRCh37Chr 3, 15686715: 15686715
110BTDNM_000060.3(BTD): c.1369G> A (p.Val457Met)single nucleotide variantPathogenicrs146600671GRCh37Chr 3, 15686732: 15686732
111BTDNM_000060.3(BTD): c.1384delA (p.Arg462Glyfs)deletionPathogenicrs397514420GRCh37Chr 3, 15686747: 15686747
112BTDNM_000060.3(BTD): c.1388G> A (p.Cys463Tyr)single nucleotide variantPathogenicrs397514421GRCh37Chr 3, 15686751: 15686751
113BTDNM_000060.3(BTD): c.1432G> C (p.Ala478Pro)single nucleotide variantPathogenicrs181396238GRCh37Chr 3, 15686795: 15686795
114BTDNM_000060.3(BTD): c.1455C> G (p.His485Gln)single nucleotide variantPathogenicrs201604102GRCh37Chr 3, 15686818: 15686818
115BTDNM_000060.3(BTD): c.1459T> C (p.Trp487Arg)single nucleotide variantPathogenicrs397514422GRCh37Chr 3, 15686822: 15686822
116BTDNM_000060.3(BTD): c.1459delT (p.Trp487Glyfs)deletionPathogenicrs397514423GRCh37Chr 3, 15686822: 15686822
117BTDNM_000060.3(BTD): c.1463G> A (p.Gly488Asp)single nucleotide variantPathogenicrs397514424GRCh37Chr 3, 15686826: 15686826
118BTDNM_000060.3(BTD): c.1489C> T (p.Pro497Ser)single nucleotide variantPathogenicrs138818907GRCh37Chr 3, 15686852: 15686852
119BTDNM_000060.3(BTD): c.1493dupT (p.Leu498Phefs)duplicationPathogenicrs397514425GRCh37Chr 3, 15686856: 15686856
120BTDNM_000060.3(BTD): c.1511T> A (p.Met504Lys)single nucleotide variantPathogenicrs397514426GRCh37Chr 3, 15686874: 15686874
121BTDNM_000060.3(BTD): c.1531C> G (p.Gln511Glu)single nucleotide variantPathogenicrs397514427GRCh37Chr 3, 15686894: 15686894
122BTDNM_000060.3(BTD): c.1610G> A (p.Gly537Glu)single nucleotide variantPathogenicrs397514428GRCh37Chr 3, 15686973: 15686973
123BTDNM_000060.3(BTD): c.1613G> A (p.Arg538His)single nucleotide variantPathogenicrs397514429GRCh37Chr 3, 15686976: 15686976
124BTDNM_000060.3(BTD): c.1616dupT (p.Leu539Phefs)duplicationPathogenicrs397514430GRCh37Chr 3, 15686979: 15686979
125BTDNM_000060.3(BTD): c.1619A> G (p.Tyr540Cys)single nucleotide variantPathogenicrs397514431GRCh37Chr 3, 15686982: 15686982
126BTDNM_000060.3(BTD): c.1627G> C (p.Asp543His)single nucleotide variantPathogenicrs397514432GRCh37Chr 3, 15686990: 15686990
127BTDNM_000060.3(BTD): c.1629C> A (p.Asp543Glu)single nucleotide variantLikely pathogenicrs146136265GRCh37Chr 3, 15686992: 15686992
128BTDNM_000060.3(BTD): c.664G> C (p.Asp222His)single nucleotide variantPathogenicrs200337373GRCh37Chr 3, 15686027: 15686027
129BTDNM_000060.3(BTD): c.1001T> A (p.Ile334Asn)single nucleotide variantPathogenicrs397514433GRCh37Chr 3, 15686364: 15686364
130BTDNM_000060.3(BTD): c.1046A> C (p.Asn349Thr)single nucleotide variantPathogenicrs200327983GRCh37Chr 3, 15686409: 15686409
131BTDNM_000060.3(BTD): c.1432G> A (p.Ala478Thr)single nucleotide variantPathogenicrs181396238GRCh37Chr 3, 15686795: 15686795
132BTDNM_000060.3(BTD): c.559C> T (p.Pro187Ser)single nucleotide variantPathogenicrs397507173GRCh37Chr 3, 15685922: 15685922
133BTDNM_000060.3(BTD): c.629A> G (p.Tyr210Cys)single nucleotide variantPathogenicrs397507174GRCh37Chr 3, 15685992: 15685992
134BTDNM_000060.3(BTD): c.968A> G (p.His323Arg)single nucleotide variantPathogenicrs397507176GRCh37Chr 3, 15686331: 15686331
135BTDNM_000060.3(BTD): c.734G> A (p.Cys245Tyr)single nucleotide variantPathogenicrs397507175GRCh37Chr 3, 15686097: 15686097
136BTDNM_000060.3(BTD): c.326T> G (p.Val109Gly)single nucleotide variantPathogenicrs397507172GRCh37Chr 3, 15683431: 15683431
137BTDNM_000060.3(BTD): c.470G> A (p.Arg157His)single nucleotide variantPathogenicrs146015592GRCh37Chr 3, 15685833: 15685833
138BTDNM_000060.3(BTD): c.511G> A (p.Ala171Thr)single nucleotide variantPathogenicrs13073139GRCh37Chr 3, 15685874: 15685874
139BTDNM_000060.3(BTD): c.212T> C (p.Leu71Pro)single nucleotide variantPathogenicrs397514333GRCh37Chr 3, 15677098: 15677098
140BTDNM_000060.3(BTD): c.128A> G (p.His43Arg)single nucleotide variantPathogenicrs146011150GRCh37Chr 3, 15677014: 15677014
141BTDNM_000060.3(BTD): c.245C> A (p.Ala82Asp)single nucleotide variantPathogenicrs397507171GRCh37Chr 3, 15677131: 15677131
142BTDNM_000060.3(BTD): c.184G> A (p.Val62Met)single nucleotide variantPathogenicrs397507170GRCh37Chr 3, 15677070: 15677070
143BTDNM_000060.3(BTD): c.98_104delGCGGCTGinsTCC (p.Cys33Phefs)indelPathogenicrs80338684GRCh37Chr 3, 15676984: 15676990
144BTDNM_000060.3(BTD): c.133G> A (p.Gly45Arg)single nucleotide variantPathogenicrs34885143GRCh37Chr 3, 15677019: 15677019
145BTDNM_000060.3(BTD): c.236G> A (p.Arg79His)single nucleotide variantPathogenicrs397514343GRCh37Chr 3, 15677122: 15677122
146BTDNM_000060.3(BTD): c.235C> T (p.Arg79Cys)single nucleotide variantPathogenicrs104893687GRCh37Chr 3, 15677121: 15677121
147BTDNM_000060.3(BTD): c.235C> T (p.Arg79Cys)single nucleotide variantPathogenicrs104893687GRCh37Chr 3, 15677121: 15677121
148BTDNM_000060.3(BTD): c.236G> A (p.Arg79His)single nucleotide variantPathogenicrs397514343GRCh37Chr 3, 15677122: 15677122
149BTDNM_000060.3(BTD): c.1330G> C (p.Asp444His)single nucleotide variantPathogenicrs13078881GRCh37Chr 3, 15686693: 15686693
150BTDNM_000060.3(BTD): c.1158G> A (p.Trp386Ter)single nucleotide variantPathogenicrs397514434GRCh37Chr 3, 15686521: 15686521
151BTDNM_000060.3(BTD): c.1171C> T (p.Pro391Ser)single nucleotide variantPathogenicrs35034250GRCh37Chr 3, 15686534: 15686534
152BTDNM_000060.3(BTD): c.1334G> T (p.Gly445Val)single nucleotide variantPathogenicrs397514402GRCh37Chr 3, 15686697: 15686697
153BTDNM_000060.3(BTD): c.1239_1250delCTATCTCCACGT (p.Tyr414_Val417del)deletionPathogenicrs397514404GRCh37Chr 3, 15686602: 15686613
154BTDNM_000060.3(BTD): c.1240_1251delTATCTCCACGTC (p.Tyr414_Val417del)deletionPathogenicrs397514435GRCh37Chr 3, 15686603: 15686614
155BTDNM_000060.3(BTD): c.192G> C (p.Glu64Asp)single nucleotide variantPathogenicrs397514436GRCh37Chr 3, 15677078: 15677078
156BTDNM_000060.3(BTD): c.518T> G (p.Leu173Arg)single nucleotide variantPathogenicrs397514437GRCh37Chr 3, 15685881: 15685881
157BTDNM_000060.3(BTD): c.758C> T (p.Pro253Leu)single nucleotide variantPathogenicrs397514438GRCh37Chr 3, 15686121: 15686121
158BTDNM_000060.3(BTD): c.1237G> A (p.Gly413Ser)single nucleotide variantPathogenicrs374141881GRCh37Chr 3, 15686600: 15686600
159BTDNM_000060.3(BTD): c.407dupA (p.Val137Glyfs)duplicationPathogenicrs397514439GRCh37Chr 3, 15683512: 15683513
160BTDNM_000060.3(BTD): c.641A> G (p.Asn214Ser)single nucleotide variantPathogenicrs397514377GRCh37Chr 3, 15686004: 15686004
161BTDNM_000060.3(BTD): c.1394dupG (p.Leu466Serfs)duplicationPathogenicrs397514440GRCh37Chr 3, 15686757: 15686757

Expression for genes affiliated with Biotinidase Deficiency

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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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Pathways related to Biotinidase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3BTD, HLCS
2
Show member pathways
9.1PCCB, LPL
3
Show member pathways
flavin biosynthesis IV (mammalian)37
molybdenum cofactor biosynthesis37
coenzyme A biosynthesis37
thiamin salvage III37
alanine biosynthesis III37
thio-molybdenum cofactor biosynthesis37
biotin-carboxyl carrier protein assembly37
8.5BTD, PCCB, HLCS
4
Show member pathways
8.0BTD, PCCB, LPL, HLCS
58.0HLCS, LPL, PCCB, BTD

Compounds for genes affiliated with Biotinidase Deficiency

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Sources:
44Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Biotinidase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1multivitamin449.5BTD, HLCS
23-methylcrotonyl-coa44 2410.5BTD, HLCS
3carnitine449.3LPL, HLCS
4lysine449.3BTD, HLCS
5acetyl-coa44 2410.2HLCS, LPL
6guanine44 24 1111.0LPL, HLCS
7acyl-coa449.0HLCS, LPL, BTD
8fatty acid448.9HLCS, LPL, BTD
9lactate448.9BTD, LPL, HLCS
10biotin44 24 1110.2BTD, PCCB, LPL, HLCS

GO Terms for genes affiliated with Biotinidase Deficiency

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Cellular components related to Biotinidase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:0057599.1BTD, PCCB

Biological processes related to Biotinidase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1biotin metabolic processGO:0067688.5BTD, PCCB, HLCS
2water-soluble vitamin metabolic processGO:0067678.4BTD, PCCB, HLCS
3vitamin metabolic processGO:0067668.2HLCS, PCCB, BTD
4small molecule metabolic processGO:0442818.0BTD, PCCB, LPL, HLCS

Products for genes affiliated with Biotinidase Deficiency

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet