MCID: BTN003
MIFTS: 58

Biotinidase Deficiency malady

Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Metabolic diseases categories

Aliases & Classifications for Biotinidase Deficiency

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 22GeneTests, 24GTR, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Biotinidase Deficiency:

Name: Biotinidase Deficiency 49 10 11 68 21 45 23 47 12 51 65 36 67
Late-Onset Multiple Carboxylase Deficiency 10 21 45 23 51 67
Btd Deficiency 10 45 23 51 67
Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency 21 45 22 23
Multiple Carboxylase Deficiency, Late-Onset 68 22 23
Biotin Deficiency 45 65 36
Biotinidase 11 22 24
Juvenile-Onset Multiple Carboxylase Deficiency 10 51
 
Carboxylase Deficiency, Multiple, Late-Onset 68 23
Multiple Carboxylase Deficiency, Juvenile-Onset 65
Holocarboxylase Synthetase Deficiency 65
Deficiency of Biotinidase 10
Biotin Deficiency Disease 65
Mcd Juvenile Form 67
Late-Onset Mcd 67
Biot 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
biotinidase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal


External Ids:

OMIM49 253260
Disease Ontology10 DOID:856
NCIt42 C84598
Orphanet51 79241
SNOMED-CT59 124513002, 8808004
ICD10 via Orphanet28 E53.8
MESH via Orphanet37 D028921
UMLS via Orphanet66 C0220754

Summaries for Biotinidase Deficiency

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NIH Rare Diseases:45 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 phenylketonuria and encephalopathy, and has symptoms including seizures, muscular hypotonia and hearing impairment. An important gene associated with Biotinidase Deficiency is BTD (Biotinidase), and among its related pathways are Biotin metabolism and Propanoate metabolism. Affiliated tissues include skin, cerebellum and eye.

Disease Ontology:10 A multiple carboxylase deficiency that involves a deficiency in biotinidase.

Genetics Home Reference:23 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:49 Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder characterized primarily by cutaneous... (253260) more...

UniProtKB/Swiss-Prot:67 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.

Wikipedia:68 Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from... more...

GeneReviews summary for biotin

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:

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

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Miconazoleapproved, investigationalPhase 2291222916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
Desenex
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Makesense
Micantin (nitrate)
Micatin
 
Miconasil Nitrate
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Oravig
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
Rash Relief Antifungal
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
2CyclosporinsPhase 2849
3
Folic Acidapproved, nutraceutical285159-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic Acid
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
 
Folsaeure
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
4
Biotinapproved, nutraceutical3458-85-5171548
Synonyms:
(+)-Biotin
(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valerate
(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid
(3AS,4S,6ar)-hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valeric acid
(3aS,4S,6aR)-Hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valerate
(3aS,4S,6aR)-Hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valeric acid
-(+)-biotin
1swk
1swn
1swr
5-(2-Oxohexahydro-1H-thieno[3,4-D]imidazol-4-yl)pentanoate
5-(2-Oxohexahydro-1H-thieno[3,4-D]imidazol-4-yl)pentanoic acid
Biodermatin
Bioepiderm
Bios II
Bios h
Biotin
Biotina
Biotine
Biotinum
Coenzyme R
D(+)-Biotin
 
D-(+)-Biotin
D-Biotin
D-Biotin factor S
Factor S
Factor S (vitamin)
Hexahydro-2-oxo-1H-thieno(3,4-D)imidazole-4-pentanoate
Hexahydro-2-oxo-1H-thieno(3,4-D)imidazole-4-pentanoic acid
Hexahydro-2-oxo-[3aS-(3aa,4b,6aa)]-1H-Thieno[3,4-D]imidazole-4-pentanoate
Hexahydro-2-oxo-[3aS-(3aa,4b,6aa)]-1H-Thieno[3,4-D]imidazole-4-pentanoic acid
Hexahydro-2-oxo-[3as-(3alpha,4beta,6alpha)]-1H-Thieno[3,4-D]imidazole-4-pentanoate
Hexahydro-2-oxo-[3as-(3alpha,4beta,6alpha)]-1H-Thieno[3,4-D]imidazole-4-pentanoic acid
Lutavit H2
Meribin
Rovimix H 2
Vitamin B7
Vitamin H
Vitamin-h
cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valerate
cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valeric acid
cis-Hexahydro-2-oxo-1H-thieno(3,4)imidazole-4-valeric acid
cis-Tetrahydro-2-oxothieno(3,4-D)imidazoline-4-valeric acid
delta-(+)-Biotin
delta-Biotin
delta-Biotin factor S
5Vitamin B Complex2775
6Vitamin B9Nutraceutical2851
7FolateNutraceutical2851
8Vitamin B7Nutraceutical34

Interventional clinical trials:

idNameStatusNCT IDPhase
1Topical Cyclosporine Suspension for the Treatment of Brittle NailsCompletedNCT01064830Phase 2
2Biotin Deficiency and Restless Legs SyndromeCompletedNCT02011191
3Biotin Status in PregnancyCompletedNCT00894920

Search NIH Clinical Center for Biotinidase Deficiency


Cochrane evidence based reviews: Biotinidase Deficiency

Genetic Tests for Biotinidase Deficiency

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Genetic tests related to Biotinidase Deficiency:

id Genetic test Affiliating Genes
1 Biotinidase Deficiency22 24 BTD

Anatomical Context for Biotinidase Deficiency

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MalaCards organs/tissues related to Biotinidase Deficiency:

33
Skin, Cerebellum, Eye, Lung, Spinal cord, Brain, 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 207)
idTitleAuthorsYear
1
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. (25795614)
2015
2
Biotinidase deficiency and our champagne legacy. (26456103)
2015
3
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss. (26358973)
2015
4
Why screen newborns for profound and partial biotinidase deficiency? (25638506)
2015
5
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014). (26361991)
2015
6
Mutations in BTD gene causing biotinidase deficiency: a regional report. (25423671)
2015
7
Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns. (24036022)
2013
8
Biotinidase deficiency: an atypical presentation. (24066991)
2013
9
Diagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan. (24169397)
2013
10
Biotinidase deficiency in childhood. (24005734)
2013
11
Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration. (22579707)
2012
12
A girl with spastic tetraparesis associated with biotinidase deficiency. (21571559)
2011
13
Epileptic encephalopathy due to partial biotinidase deficiency]. (20171151)
2010
14
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
15
Profound biotinidase deficiency: a rare disease among native Swedes. (20224900)
2010
16
Brain diffusion-weighted and diffusion tensor imaging findings in an infant with biotinidase deficiency. (19509076)
2009
17
Profound biotinidase deficiency in a child with predominantly spinal cord disease. (18645204)
2008
18
Spinal cord demyelination associated with biotinidase deficiency in 3 Chinese patients. (17621476)
2007
19
Qualitative colorimetric ultramicroassay for the detection of biotinidase deficiency in newborns. (16480705)
2006
20
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency. (15877202)
2005
21
Biotinidase deficiency: a treatable leukoencephalopathy. (15328559)
2004
22
Outcome in patients with profound biotinidase deficiency: relevance of newborn screening. (15230462)
2004
23
Biotinidase Deficiency: New Directions and Practical Concerns. (12791199)
2003
24
Screening for congenital hypothyroidism, phenylketonuria, galactosemia and biotinidase deficiency in a sample of mentally retarded patients in the city of Havana]. (12766862)
2003
25
Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening. (12227467)
2002
26
Mutations in BTD causing biotinidase deficiency. (11668630)
2001
27
Cutaneous and neurologic manifestations of biotinidase deficiency. (10849128)
2000
28
Biotinidase deficiency--a treatable entity. (10932969)
2000
29
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
30
Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses. (9516011)
1998
31
Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis. (9396567)
1997
32
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
33
Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States. (9232193)
1997
34
Normalisation of severe cranial CT scan abnormalities after biotin in a case of biotinidase deficiency. (7843204)
1994
35
Infantile spasms as the initial symptom of biotinidase deficiency. (8283357)
1994
36
Biotinidase deficiency: early neurological presentation. (8138076)
1994
37
Biotinidase deficiency. Progressive encephalopathy curable with biotin]. (8053766)
1993
38
Characterization of seizures associated with biotinidase deficiency. (8327137)
1993
39
Cerebrospinal fluid organic acids in biotinidase deficiency. (7609439)
1993
40
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
41
Statistical approaches for the detection of heterozygotes for biotinidase deficiency. (1877614)
1991
42
Biotinidase deficiency. (1927696)
1991
43
Rat as a potential model for hearing loss in biotinidase deficiency. (2018287)
1991
44
Partial biotinidase deficiency: clinical and biochemical features. (2295967)
1990
45
Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]. (2356250)
1990
46
Comparison of patients with complete and partial biotinidase deficiency: biochemical studies. (2109151)
1990
47
Biotinidase deficiency: a survey of 10 cases. (3196050)
1988
48
Screening for biotinidase deficiency. (3702961)
1986
49
Neurologic symptoms of biotinidase deficiency: possible explanation. (4033935)
1985
50
Long-term auditory and visual complications of biotinidase deficiency. (4054050)
1985

Variations for Biotinidase Deficiency

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

67
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:

5 (show all 173)
id Gene Variation Type Significance SNP ID Assembly Location
1BTDNM_000060.3(BTD): c.1207T> G (p.Phe403Val)single nucleotide variantPathogenicrs104893686GRCh37Chr 3, 15686570: 15686570
2BTDNM_000060.3(BTD): c.257T> G (p.Met86Arg)single nucleotide variantPathogenicrs587783002GRCh37Chr 3, 15677143: 15677143
3BTDNM_000060.3(BTD): c.455C> G (p.Thr152Arg)single nucleotide variantPathogenicrs587783003GRCh37Chr 3, 15683560: 15683560
4BTDNM_000060.3(BTD): c.683A> G (p.Asp228Gly)single nucleotide variantPathogenicrs587783004GRCh37Chr 3, 15686046: 15686046
5BTDNM_000060.3(BTD): c.701C> T (p.Thr234Ile)single nucleotide variantLikely pathogenic, Pathogenicrs587783005GRCh37Chr 3, 15686064: 15686064
6BTDNM_000060.3(BTD): c.898A> C (p.Asn300His)single nucleotide variantPathogenicrs587783006GRCh37Chr 3, 15686261: 15686261
7BTDNM_000060.3(BTD): c.1372dupT (p.Cys458Leufs)duplicationPathogenicrs587783007GRCh37Chr 3, 15686735: 15686735
8BTDNM_000060.3(BTD): c.310-15delTdeletionPathogenicrs587783008GRCh37Chr 3, 15683400: 15683400
9BTDNM_000060.3(BTD)indelLikely pathogenicrs672601248GRCh37Chr 3, 15686590: 15686604
10BTDNM_000060.3(BTD): c.202_205dupATCC (p.Leu69Hisfs)duplicationLikely pathogenicrs786204672GRCh37Chr 3, 15677088: 15677091
11BTDNM_000060.3(BTD): c.98_104delGCGGCTGinsTCC (p.Cys33Phefs)indelPathogenicrs80338684GRCh37Chr 3, 15676984: 15676990
12BTDBTD, 15-BP DEL/11-BP INSindelPathogenic
13BTDNM_000060.3(BTD): c.1595C> T (p.Thr532Met)single nucleotide variantPathogenicrs104893688GRCh37Chr 3, 15686958: 15686958
14BTDNM_000060.3(BTD): c.1612C> T (p.Arg538Cys)single nucleotide variantPathogenicrs80338686GRCh37Chr 3, 15686975: 15686975
15BTDNM_000060.3(BTD): c.100G> A (p.Gly34Ser)single nucleotide variantPathogenicrs119103232GRCh37Chr 3, 15676986: 15676986
16BTDNM_000060.3(BTD): c.1330G> C (p.Asp444His)single nucleotide variantPathogenicrs13078881GRCh37Chr 3, 15686693: 15686693
17BTDNM_000060.3(BTD): c.755A> G (p.Asp252Gly)single nucleotide variantPathogenicrs28934601GRCh37Chr 3, 15686118: 15686118
18BTDNM_000060.3(BTD): c.1368A> C (p.Gln456His)single nucleotide variantPathogenicrs80338685GRCh37Chr 3, 15686731: 15686731
19BTDNM_000060.3(BTD): c.1466A> C (p.Asn489Thr)single nucleotide variantPathogenicrs104893692GRCh37Chr 3, 15686829: 15686829
20BTDNM_000060.3(BTD): c.1330G> C (p.Asp444His)single nucleotide variantPathogenicrs13078881GRCh37Chr 3, 15686693: 15686693
21BTDNM_000060.3(BTD): c.235C> T (p.Arg79Cys)single nucleotide variantPathogenicrs104893687GRCh37Chr 3, 15677121: 15677121
22HLCSNM_000411.6(HLCS): c.1648G> A (p.Val550Met)single nucleotide variantPathogenicrs119103231GRCh37Chr 21, 38137345: 38137345
23BTDNM_000060.3(BTD): c.1157G> A (p.Trp386Ter)single nucleotide variantPathogenicrs397514401GRCh37Chr 3, 15686520: 15686520
24BTDNM_000060.3(BTD): c.1271G> C (p.Cys424Ser)single nucleotide variantPathogenicrs397514335GRCh37Chr 3, 15686634: 15686634
25BTDNM_000060.3(BTD): c.136G> T (p.Glu46Ter)single nucleotide variantPathogenicrs397514336GRCh37Chr 3, 15677022: 15677022
26BTDNM_000060.3(BTD): c.159C> A (p.His53Gln)single nucleotide variantPathogenicrs397514337GRCh37Chr 3, 15677045: 15677045
27BTDNM_000060.3(BTD): c.171T> G (p.Tyr57Ter)single nucleotide variantPathogenicrs397514339GRCh37Chr 3, 15677057: 15677057
28BTDNM_000060.3(BTD): c.184G> T (p.Val62Leu)single nucleotide variantPathogenicrs397507170GRCh37Chr 3, 15677070: 15677070
29BTDNM_000060.3(BTD): c.190G> A (p.Glu64Lys)single nucleotide variantPathogenicrs397514340GRCh37Chr 3, 15677076: 15677076
30BTDH65fsinsertionPathogenic
31BTDNM_000060.3(BTD): c.194A> G (p.His65Arg)single nucleotide variantPathogenicrs397514341GRCh37Chr 3, 15677080: 15677080
32BTDNM_000060.3(BTD): c.245C> T (p.Ala82Val)single nucleotide variantPathogenicrs397507171GRCh37Chr 3, 15677131: 15677131
33BTDNM_000060.3(BTD): c.246_254delCTTGGAGCT (p.Leu83_Leu85del)deletionPathogenicrs397514346GRCh37Chr 3, 15677132: 15677140
34BTDNM_000060.3(BTD): c.248T> C (p.Leu83Ser)single nucleotide variantPathogenicrs397514347GRCh37Chr 3, 15677134: 15677134
35BTDNM_000060.3(BTD): c.262C> T (p.Gln88Ter)single nucleotide variantPathogenicrs151071780GRCh37Chr 3, 15677148: 15677148
36BTDNM_000060.3(BTD): c.278A> G (p.Tyr93Cys)single nucleotide variantPathogenicrs397514348GRCh37Chr 3, 15677164: 15677164
37BTDNM_000060.3(BTD): c.1330G> C (p.Asp444His)single nucleotide variantPathogenicrs13078881GRCh37Chr 3, 15686693: 15686693
38BTDNM_000060.3(BTD): c.298G> A (p.Ala100Thr)single nucleotide variantPathogenicrs397514350GRCh37Chr 3, 15677184: 15677184
39BTDNM_000060.3(BTD): c.310G> T (p.Asp104Tyr)single nucleotide variantPathogenicrs397514351GRCh37Chr 3, 15683415: 15683415
40BTDNM_000060.3(BTD): c.334G> C (p.Glu112Gln)single nucleotide variantPathogenicrs397514352GRCh37Chr 3, 15683439: 15683439
41BTDNM_000060.3(BTD): c.334G> A (p.Glu112Lys)single nucleotide variantPathogenicrs397514352GRCh37Chr 3, 15683439: 15683439
42BTDNM_000060.3(BTD): c.341G> T (p.Gly114Val)single nucleotide variantPathogenicrs375712490GRCh37Chr 3, 15683446: 15683446
43BTDNM_000060.3(BTD): c.356A> G (p.Asn119Ser)single nucleotide variantPathogenicrs397514353GRCh37Chr 3, 15683461: 15683461
44BTDNM_000060.3(BTD): c.364A> G (p.Arg122Gly)single nucleotide variantPathogenicrs397514354GRCh37Chr 3, 15683469: 15683469
45BTDNM_000060.3(BTD): c.382T> G (p.Phe128Val)single nucleotide variantPathogenicrs397514355GRCh37Chr 3, 15683487: 15683487
46BTDNM_000060.3(BTD): c.393delC (p.Phe131Leufs)deletionPathogenicrs397514356GRCh37Chr 3, 15683498: 15683498
47BTDNM_000060.3(BTD): c.424C> A (p.Pro142Thr)single nucleotide variantPathogenicrs397514357GRCh37Chr 3, 15683529: 15683529
48BTDNM_000060.3(BTD): c.443G> A (p.Arg148His)single nucleotide variantPathogenicrs367902696GRCh37Chr 3, 15683548: 15683548
49BTDNM_000060.3(BTD): c.445T> C (p.Phe149Leu)single nucleotide variantPathogenicrs397514359GRCh37Chr 3, 15683550: 15683550
50BTDNM_000060.3(BTD): c.454A> C (p.Thr152Pro)single nucleotide variantPathogenicrs374681173GRCh37Chr 3, 15683559: 15683559
51BTDNM_000060.3(BTD): c.459G> A (p.Glu153Glu=)single nucleotide variantPathogenicrs397514360GRCh37Chr 3, 15683564: 15683564
52BTDNM_000060.3(BTD): c.466C> T (p.Gln156Ter)single nucleotide variantPathogenicrs397514362GRCh37Chr 3, 15685829: 15685829
53BTDNM_000060.3(BTD): c.469C> T (p.Arg157Cys)single nucleotide variantPathogenicrs397514363GRCh37Chr 3, 15685832: 15685832
54BTDNM_000060.3(BTD): c.485C> T (p.Ala162Val)single nucleotide variantPathogenicrs397514364GRCh37Chr 3, 15685848: 15685848
55BTDNM_000060.3(BTD): c.490_491delAG (p.Arg164Glyfs)deletionPathogenicrs397514365GRCh37Chr 3, 15685853: 15685854
56BTDNM_000060.3(BTD): c.1330G> C (p.Asp444His)single nucleotide variantPathogenicrs13078881GRCh37Chr 3, 15686693: 15686693
57BTDNM_000060.3(BTD): c.515A> G (p.Asn172Ser)single nucleotide variantPathogenicrs397514366GRCh37Chr 3, 15685878: 15685878
58BTDNM_000060.3(BTD): c.528G> T (p.Lys176Asn)single nucleotide variantPathogenicrs397514367GRCh37Chr 3, 15685891: 15685891
59BTDNM_000060.3(BTD): c.544delA (p.Ser182Valfs)deletionPathogenicrs397514368GRCh37Chr 3, 15685907: 15685907
60BTDNM_000060.3(BTD): c.557G> A (p.Cys186Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs397514369GRCh37Chr 3, 15685920: 15685920
61BTDNM_000060.3(BTD): c.583A> G (p.Asn195Asp)single nucleotide variantPathogenicrs397514370GRCh37Chr 3, 15685946: 15685946
62BTDNM_000060.3(BTD): c.584A> G (p.Asn195Ser)single nucleotide variantPathogenicrs397514371GRCh37Chr 3, 15685947: 15685947
63BTDNM_000060.3(BTD): c.587C> G (p.Thr196Arg)single nucleotide variantPathogenicrs397514372GRCh37Chr 3, 15685950: 15685950
64BTDNM_000060.3(BTD): c.594_596delCGT (p.Val199del)deletionPathogenicrs397514373GRCh37Chr 3, 15685957: 15685959
65BTDNM_000060.3(BTD): c.594delC (p.Val199Cysfs)deletionPathogenicrs397514374GRCh37Chr 3, 15685957: 15685957
66BTDNM_000060.3(BTD): c.595G> A (p.Val199Met)single nucleotide variantPathogenicrs397514375GRCh37Chr 3, 15685958: 15685958
67BTDNM_000060.3(BTD): c.605A> T (p.Asn202Ile)single nucleotide variantPathogenicrs397514376GRCh37Chr 3, 15685968: 15685968
68BTDNM_000060.3(BTD): c.631C> T (p.Arg211Cys)single nucleotide variantPathogenicrs372844636GRCh37Chr 3, 15685994: 15685994
69BTDNM_000060.3(BTD): c.632G> A (p.Arg211His)single nucleotide variantPathogenicrs112195009GRCh37Chr 3, 15685995: 15685995
70BTDNM_000060.3(BTD): c.1330G> C (p.Asp444His)single nucleotide variantPathogenicrs13078881GRCh37Chr 3, 15686693: 15686693
71BTDNM_000060.3(BTD): c.643C> T (p.Leu215Phe)single nucleotide variantPathogenicrs190386869GRCh37Chr 3, 15686006: 15686006
72BTDNM_000060.3(BTD): c.652G> C (p.Glu218Gln)single nucleotide variantPathogenicrs397514378GRCh37Chr 3, 15686015: 15686015
73BTDNM_000060.3(BTD): c.654G> C (p.Glu218Asp)single nucleotide variantPathogenicrs397514379GRCh37Chr 3, 15686017: 15686017
74BTDNM_000060.3(BTD): c.682G> T (p.Asp228Tyr)single nucleotide variantPathogenicrs397514380GRCh37Chr 3, 15686045: 15686045
75BTDNM_000060.3(BTD): c.709G> A (p.Ala237Thr)single nucleotide variantPathogenicrs397514381GRCh37Chr 3, 15686072: 15686072
76BTDNM_000060.3(BTD): c.743T> C (p.Ile248Thr)single nucleotide variantPathogenicrs397514382GRCh37Chr 3, 15686106: 15686106
77BTDNM_000060.3(BTD): c.757C> T (p.Pro253Ser)single nucleotide variantPathogenicrs397514383GRCh37Chr 3, 15686120: 15686120
78BTDNM_000060.3(BTD): c.764T> C (p.Ile255Thr)single nucleotide variantPathogenicrs397514384GRCh37Chr 3, 15686127: 15686127
79BTDNM_000060.3(BTD): c.794A> T (p.His265Leu)single nucleotide variantPathogenicrs397514385GRCh37Chr 3, 15686157: 15686157
80BTDNM_000060.3(BTD): c.794A> T (p.His265Leu)single nucleotide variantPathogenicrs397514385GRCh37Chr 3, 15686157: 15686157
81BTDNM_000060.3(BTD): c.814T> G (p.Trp272Gly)single nucleotide variantPathogenicrs397514387GRCh37Chr 3, 15686177: 15686177
82BTDNM_000060.3(BTD): c.832C> G (p.Leu278Val)single nucleotide variantPathogenicrs397514388GRCh37Chr 3, 15686195: 15686195
83BTDNM_000060.3(BTD): c.833T> C (p.Leu278Pro)single nucleotide variantPathogenicrs397514389GRCh37Chr 3, 15686196: 15686196
84BTDNM_000060.3(BTD): c.836T> G (p.Leu279Trp)single nucleotide variantPathogenicrs397514390GRCh37Chr 3, 15686199: 15686199
85BTDNM_000060.3(BTD): c.880A> G (p.Ile294Val)single nucleotide variantPathogenicrs35976361GRCh37Chr 3, 15686243: 15686243
86BTDNM_000060.3(BTD): c.887T> G (p.Val296Gly)single nucleotide variantPathogenicrs397514391GRCh37Chr 3, 15686250: 15686250
87BTDNM_000060.3(BTD): c.896C> T (p.Ala299Val)single nucleotide variantPathogenicrs397514392GRCh37Chr 3, 15686259: 15686259
88BTDNM_000060.3(BTD): c.929G> A (p.Gly310Glu)single nucleotide variantPathogenicrs397514393GRCh37Chr 3, 15686292: 15686292
89BTDNM_000060.3(BTD): c.932G> A (p.Ser311Asn)single nucleotide variantPathogenicrs397514394GRCh37Chr 3, 15686295: 15686295
90BTDNM_000060.3(BTD): c.933delT (p.Ser311Argfs)deletionLikely pathogenic, Pathogenicrs397514395GRCh37Chr 3, 15686296: 15686296
91BTDNM_000060.3(BTD): c.933T> G (p.Ser311Arg)single nucleotide variantPathogenicrs397514386GRCh37Chr 3, 15686296: 15686296
92BTDNM_000060.3(BTD): c.934G> A (p.Gly312Ser)single nucleotide variantPathogenicrs397514396GRCh37Chr 3, 15686297: 15686297
93BTDNM_000060.3(BTD): c.935G> A (p.Gly312Asp)single nucleotide variantPathogenicrs377651057GRCh37Chr 3, 15686298: 15686298
94BTDNM_000060.3(BTD): c.1049delC (p.Ala350Glufs)deletionPathogenicrs397514397GRCh37Chr 3, 15686412: 15686412
95BTDNM_000060.3(BTD): c.1052delC (p.Thr351Lysfs)deletionPathogenicrs397514398GRCh37Chr 3, 15686415: 15686415
96BTDNM_000060.3(BTD): c.1096T> C (p.Ser366Pro)single nucleotide variantPathogenicrs397514399GRCh37Chr 3, 15686459: 15686459
97BTDNM_000060.3(BTD): c.1106C> T (p.Pro369Leu)single nucleotide variantPathogenicrs397514400GRCh37Chr 3, 15686469: 15686469
98BTDNM_000060.3(BTD): c.1191_1192delGA (p.Glu397Aspfs)deletionPathogenicrs397514403GRCh37Chr 3, 15686554: 15686555
99BTDNM_000060.3(BTD): c.1205A> G (p.Asn402Ser)single nucleotide variantPathogenicrs201023772GRCh37Chr 3, 15686568: 15686568
100BTDNM_000060.3(BTD): c.1211C> T (p.Thr404Ile)single nucleotide variantPathogenicrs397514405GRCh37Chr 3, 15686574: 15686574
101BTDNM_000060.3(BTD): c.1214T> C (p.Leu405Pro)single nucleotide variantPathogenicrs397514406GRCh37Chr 3, 15686577: 15686577
102BTDNM_000060.3(BTD): c.1227_1241delGGGAAAGGAAGGCTAins11 (p.?)indelPathogenicrs672601248GRCh37Chr 3, 15686590: 15686604
103BTDNM_000060.3(BTD): c.1239delC (p.Tyr414Ilefs)deletionPathogenicrs397514407GRCh37Chr 3, 15686602: 15686602
104BTDNM_000060.3(BTD): c.1252T> C (p.Cys418Arg)single nucleotide variantPathogenicrs397514408GRCh37Chr 3, 15686615: 15686615
105BTDNM_000060.3(BTD): c.1249G> T (p.Val417Phe)single nucleotide variantPathogenicrs397514409GRCh37Chr 3, 15686612: 15686612
106BTDNM_000060.3(BTD): c.1253G> C (p.Cys418Ser)single nucleotide variantPathogenicrs397514410GRCh37Chr 3, 15686616: 15686616
107BTDNM_000060.3(BTD): c.1264dupC (p.Leu422Profs)duplicationPathogenicrs397514411GRCh37Chr 3, 15686627: 15686627
108BTDNM_000060.3(BTD): c.1267T> C (p.Cys423Arg)single nucleotide variantPathogenicrs397514412GRCh37Chr 3, 15686630: 15686630
109BTDNM_000060.3(BTD): c.1268G> C (p.Cys423Ser)single nucleotide variantPathogenicrs397514413GRCh37Chr 3, 15686631: 15686631
110BTDNM_000060.3(BTD): c.1271G> A (p.Cys424Tyr)single nucleotide variantPathogenicrs397514335GRCh37Chr 3, 15686634: 15686634
111BTDNM_000060.3(BTD): c.1271G> C (p.Cys424Ser)single nucleotide variantPathogenicrs397514335GRCh37Chr 3, 15686634: 15686634
112BTDNM_000060.3(BTD): c.1275T> G (p.Tyr425Ter)single nucleotide variantPathogenicrs397514414GRCh37Chr 3, 15686638: 15686638
113BTDNM_000060.3(BTD): c.1284C> A (p.Tyr428Ter)single nucleotide variantPathogenicrs35145938GRCh37Chr 3, 15686647: 15686647
114BTDNM_000060.3(BTD): c.1313A> G (p.Tyr438Cys)single nucleotide variantPathogenicrs397514415GRCh37Chr 3, 15686676: 15686676
115BTDNM_000060.3(BTD): c.1314T> A (p.Tyr438Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397514416GRCh37Chr 3, 15686677: 15686677
116BTDNM_000060.3(BTD): c.1333G> A (p.Gly445Arg)single nucleotide variantPathogenicrs397514417GRCh37Chr 3, 15686696: 15686696
117BTDNM_000060.3(BTD): c.1334G> T (p.Gly445Val)single nucleotide variantPathogenicrs397514402GRCh37Chr 3, 15686697: 15686697
118BTDNM_000060.3(BTD): c.1339C> T (p.His447Tyr)single nucleotide variantPathogenicrs397514418GRCh37Chr 3, 15686702: 15686702
119BTDNM_000060.3(BTD): c.1352G> A (p.Gly451Asp)single nucleotide variantPathogenicrs397514419GRCh37Chr 3, 15686715: 15686715
120BTDNM_000060.3(BTD): c.1369G> A (p.Val457Met)single nucleotide variantPathogenicrs146600671GRCh37Chr 3, 15686732: 15686732
121BTDNM_000060.3(BTD): c.1384delA (p.Arg462Glyfs)deletionPathogenicrs397514420GRCh37Chr 3, 15686747: 15686747
122BTDNM_000060.3(BTD): c.1388G> A (p.Cys463Tyr)single nucleotide variantPathogenicrs397514421GRCh37Chr 3, 15686751: 15686751
123BTDNM_000060.3(BTD): c.1432G> C (p.Ala478Pro)single nucleotide variantPathogenicrs181396238GRCh37Chr 3, 15686795: 15686795
124BTDNM_000060.3(BTD): c.1455C> G (p.His485Gln)single nucleotide variantPathogenicrs201604102GRCh37Chr 3, 15686818: 15686818
125BTDNM_000060.3(BTD): c.1459T> C (p.Trp487Arg)single nucleotide variantPathogenicrs397514422GRCh37Chr 3, 15686822: 15686822
126BTDNM_000060.3(BTD): c.1459delT (p.Trp487Glyfs)deletionPathogenicrs397514423GRCh37Chr 3, 15686822: 15686822
127BTDNM_000060.3(BTD): c.1463G> A (p.Gly488Asp)single nucleotide variantPathogenicrs397514424GRCh37Chr 3, 15686826: 15686826
128BTDNM_000060.3(BTD): c.1489C> T (p.Pro497Ser)single nucleotide variantPathogenicrs138818907GRCh37Chr 3, 15686852: 15686852
129BTDNM_000060.3(BTD): c.1493dupT (p.Leu498Phefs)duplicationPathogenicrs397514425GRCh37Chr 3, 15686856: 15686856
130BTDNM_000060.3(BTD): c.1511T> A (p.Met504Lys)single nucleotide variantPathogenicrs397514426GRCh37Chr 3, 15686874: 15686874
131BTDNM_000060.3(BTD): c.1531C> G (p.Gln511Glu)single nucleotide variantPathogenicrs397514427GRCh37Chr 3, 15686894: 15686894
132BTDNM_000060.3(BTD): c.1610G> A (p.Gly537Glu)single nucleotide variantPathogenicrs397514428GRCh37Chr 3, 15686973: 15686973
133BTDNM_000060.3(BTD): c.1613G> A (p.Arg538His)single nucleotide variantPathogenicrs397514429GRCh37Chr 3, 15686976: 15686976
134BTDNM_000060.3(BTD): c.1616dupT (p.Leu539Phefs)duplicationPathogenicrs397514430GRCh37Chr 3, 15686979: 15686979
135BTDNM_000060.3(BTD): c.1619A> G (p.Tyr540Cys)single nucleotide variantPathogenicrs397514431GRCh37Chr 3, 15686982: 15686982
136BTDNM_000060.3(BTD): c.1627G> C (p.Asp543His)single nucleotide variantPathogenicrs397514432GRCh37Chr 3, 15686990: 15686990
137BTDNM_000060.3(BTD): c.1629C> A (p.Asp543Glu)single nucleotide variantLikely pathogenicrs146136265GRCh37Chr 3, 15686992: 15686992
138BTDNM_000060.3(BTD): c.664G> C (p.Asp222His)single nucleotide variantPathogenicrs200337373GRCh37Chr 3, 15686027: 15686027
139BTDNM_000060.3(BTD): c.1001T> A (p.Ile334Asn)single nucleotide variantPathogenicrs397514433GRCh37Chr 3, 15686364: 15686364
140BTDNM_000060.3(BTD): c.1046A> C (p.Asn349Thr)single nucleotide variantPathogenicrs200327983GRCh37Chr 3, 15686409: 15686409
141BTDNM_000060.3(BTD): c.1432G> A (p.Ala478Thr)single nucleotide variantPathogenicrs181396238GRCh37Chr 3, 15686795: 15686795
142BTDNM_000060.3(BTD): c.559C> T (p.Pro187Ser)single nucleotide variantPathogenicrs397507173GRCh37Chr 3, 15685922: 15685922
143BTDNM_000060.3(BTD): c.629A> G (p.Tyr210Cys)single nucleotide variantLikely pathogenic, Pathogenicrs397507174GRCh37Chr 3, 15685992: 15685992
144BTDNM_000060.3(BTD): c.968A> G (p.His323Arg)single nucleotide variantPathogenicrs397507176GRCh37Chr 3, 15686331: 15686331
145BTDNM_000060.3(BTD): c.734G> A (p.Cys245Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs397507175GRCh37Chr 3, 15686097: 15686097
146BTDNM_000060.3(BTD): c.326T> G (p.Val109Gly)single nucleotide variantPathogenicrs397507172GRCh37Chr 3, 15683431: 15683431
147BTDNM_000060.3(BTD): c.470G> A (p.Arg157His)single nucleotide variantPathogenicrs146015592GRCh37Chr 3, 15685833: 15685833
148BTDNM_000060.3(BTD): c.511G> A (p.Ala171Thr)single nucleotide variantPathogenicrs13073139GRCh37Chr 3, 15685874: 15685874
149BTDNM_000060.3(BTD): c.212T> C (p.Leu71Pro)single nucleotide variantPathogenicrs397514333GRCh37Chr 3, 15677098: 15677098
150BTDNM_000060.3(BTD): c.128A> G (p.His43Arg)single nucleotide variantPathogenicrs146011150GRCh37Chr 3, 15677014: 15677014
151BTDNM_000060.3(BTD): c.245C> A (p.Ala82Asp)single nucleotide variantPathogenicrs397507171GRCh37Chr 3, 15677131: 15677131
152BTDNM_000060.3(BTD): c.184G> A (p.Val62Met)single nucleotide variantPathogenicrs397507170GRCh37Chr 3, 15677070: 15677070
153BTDNM_000060.3(BTD): c.98_104delGCGGCTGinsTCC (p.Cys33Phefs)indelPathogenicrs80338684GRCh37Chr 3, 15676984: 15676990
154BTDNM_000060.3(BTD): c.865G> C (p.Ala289Pro)single nucleotide variantPathogenicrs397514334GRCh37Chr 3, 15686228: 15686228
155BTDNM_000060.3(BTD): c.236G> A (p.Arg79His)single nucleotide variantPathogenicrs397514343GRCh37Chr 3, 15677122: 15677122
156BTDNM_000060.3(BTD): c.235C> T (p.Arg79Cys)single nucleotide variantPathogenicrs104893687GRCh37Chr 3, 15677121: 15677121
157BTDNM_000060.3(BTD): c.235C> T (p.Arg79Cys)single nucleotide variantPathogenicrs104893687GRCh37Chr 3, 15677121: 15677121
158BTDNM_000060.3(BTD): c.236G> A (p.Arg79His)single nucleotide variantPathogenicrs397514343GRCh37Chr 3, 15677122: 15677122
159BTDNM_000060.3(BTD): c.1330G> C (p.Asp444His)single nucleotide variantPathogenicrs13078881GRCh37Chr 3, 15686693: 15686693
160BTDNM_000060.3(BTD): c.1158G> A (p.Trp386Ter)single nucleotide variantPathogenicrs397514434GRCh37Chr 3, 15686521: 15686521
161BTDNM_000060.3(BTD): c.1171C> T (p.Pro391Ser)single nucleotide variantPathogenicrs35034250GRCh37Chr 3, 15686534: 15686534
162BTDNM_000060.3(BTD): c.1334G> T (p.Gly445Val)single nucleotide variantPathogenicrs397514402GRCh37Chr 3, 15686697: 15686697
163BTDNM_000060.3(BTD): c.1239_1250delCTATCTCCACGT (p.Tyr414_Val417del)deletionPathogenicrs397514404GRCh37Chr 3, 15686602: 15686613
164BTDNM_000060.3(BTD): c.1240_1251delTATCTCCACGTC (p.Tyr414_Val417del)deletionPathogenicrs397514435GRCh37Chr 3, 15686603: 15686614
165BTDNM_000060.3(BTD): c.192G> C (p.Glu64Asp)single nucleotide variantPathogenicrs397514436GRCh37Chr 3, 15677078: 15677078
166BTDNM_000060.3(BTD): c.518T> G (p.Leu173Arg)single nucleotide variantPathogenicrs397514437GRCh37Chr 3, 15685881: 15685881
167BTDNM_000060.3(BTD): c.758C> T (p.Pro253Leu)single nucleotide variantPathogenicrs397514438GRCh37Chr 3, 15686121: 15686121
168BTDNM_000060.3(BTD): c.1237G> A (p.Gly413Ser)single nucleotide variantPathogenicrs374141881GRCh37Chr 3, 15686600: 15686600
169BTDNM_000060.3(BTD): c.407dupA (p.Val137Glyfs)duplicationPathogenicrs397514439GRCh37Chr 3, 15683512: 15683512
170BTDNM_000060.3(BTD): c.641A> G (p.Asn214Ser)single nucleotide variantPathogenicrs397514377GRCh37Chr 3, 15686004: 15686004
171BTDNM_000060.3(BTD): c.1394dupG (p.Leu466Serfs)duplicationPathogenicrs397514440GRCh37Chr 3, 15686757: 15686757
172BTDNM_000060.3(BTD): c.1508_1512delGGATG (p.Gly503Aspfs)deletionPathogenicrs398123138GRCh37Chr 3, 15686871: 15686875
173BTDNM_000060.3(BTD): c.626G> A (p.Arg209His)single nucleotide variantPathogenicrs398123139GRCh37Chr 3, 15685989: 15685989

Expression for genes affiliated with Biotinidase Deficiency

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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 Suite gene sharing:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8BTD, HLCS
29.5ACADM, PCCB
39.5ACADM, LPL
4
Show member pathways
9.4ACADM, ACADVL
59.4ACADM, ACADVL
6
Show member pathways
9.2MCCC2, PCCB
7
Show member pathways
9.0ACADM, ACADVL, PCCB
8
Show member pathways
9.0ACADM, ACADVL, LPL
9
Show member pathways
8.7ACADM, MCCC2, PCCB
10
Show member pathways
8.6ACADM, ACADVL, LPL, PCCB
11
Show member pathways
8.5BTD, HLCS, MCCC2, PCCB
12
Show member pathways
7.0ACADM, ACADVL, BTD, HLCS, LPL, MCCC2

GO Terms for genes affiliated with Biotinidase Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057597.9ACADM, ACADVL, BTD, MCCC2, PCCB
2mitochondrionGO:00057397.5ACADM, ACADVL, HLCS, MCCC2, PCCB

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1fatty acid biosynthetic processGO:000663310.1LPL, PCCB
2fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:003353910.1ACADM, ACADVL
3response to coldGO:000940910.1ACADM, LPL
4lipid homeostasisGO:005508810.0ACADM, ACADVL
5response to glucoseGO:00097499.9EIF2B4, LPL
6fatty acid beta-oxidationGO:00066359.5ACADM, ACADVL, PCCB
7cellular lipid metabolic processGO:00442559.4ACADM, ACADVL, PCCB
8biotin metabolic processGO:00067689.2BTD, HLCS, MCCC2, PCCB
9vitamin metabolic processGO:00067668.8BTD, HLCS, MCCC2, PCCB
10water-soluble vitamin metabolic processGO:00067678.8BTD, HLCS, MCCC2, PCCB
11metabolic processGO:00081527.9ACADM, ACADVL, BTD, MCCC2, PCCB
12small molecule metabolic processGO:00442817.0ACADM, ACADVL, BTD, HLCS, LPL, MCCC2

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

idNameGO IDScoreTop Affiliating Genes
1acyl-CoA dehydrogenase activityGO:00039959.9ACADM, ACADVL
2oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptorGO:00528909.9ACADM, ACADVL
3oxidoreductase activity, acting on the CH-CH group of donorsGO:00166279.7ACADM, ACADVL
4fatty-acyl-CoA bindingGO:00000629.5ACADM, ACADVL
5flavin adenine dinucleotide bindingGO:00506609.4ACADM, ACADVL
6electron carrier activityGO:00090559.4ACADM, ACADVL

Sources for Biotinidase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet