MCID: BTN003
MIFTS: 56

Biotinidase Deficiency malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Metabolic diseases

Aliases & Classifications for Biotinidase Deficiency

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Sources:
50OMIM, 11Disease Ontology, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 25GTR, 28ICD10, 43NCIt, 38MESH via Orphanet, 67UMLS via Orphanet, 29ICD10 via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Biotinidase Deficiency:

Name: Biotinidase Deficiency 50 11 69 22 46 23 24 13 52 68 12 48 37 66
Late-Onset Multiple Carboxylase Deficiency 11 22 46 23 24 52 68
Btd Deficiency 11 46 24 52 68
Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency 46 23 24
Juvenile-Onset Multiple Carboxylase Deficiency 11 52
Deficiency of Biotinidase 11 25
Biotin Deficiency 46 66
Biotinidase Deficiency Multiple Carboxylase Deficiency, Late-Onset 50
 
Multiple Carboxylase Deficiency, Juvenile-Onset 66
Carboxylase Deficiency, Multiple, Late-Onset 24
Multiple Carboxylase Deficiency, Late-Onset 24
Biotin Deficiency Disease 66
Mcd Juvenile Form 68
Late-Onset Mcd 68
Biotinidase 12
Biot 24

Characteristics:

Orphanet epidemiological data:

52
biotinidase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal

HPO:

62
biotinidase deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 253260
Disease Ontology11 DOID:856
ICD1028 D81.810
MeSH37 D028921
NCIt43 C84598
SNOMED-CT60 124513002, 8808004
Orphanet52 ORPHA79241
MESH via Orphanet38 D028921
UMLS via Orphanet67 C0220754
ICD10 via Orphanet29 E53.8

Summaries for Biotinidase Deficiency

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NIH Rare Diseases:46 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 holocarboxylase synthetase deficiency 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 Valine, leucine and isoleucine degradation. Affiliated tissues include skin, cerebellum and eye.

Disease Ontology:11 A multiple carboxylase deficiency that involves a deficiency in biotinidase.

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 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:50 Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder characterized primarily by cutaneous... (253260) more...

Wikipedia:69 Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from... more...

GeneReviews summary for NBK1322

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:

 52 (show all 23)
  • hearing impairment
  • myopia
  • optic atrophy
  • keratoconjunctivitis
  • visual field defect
  • ataxia
  • muscular hypotonia
  • lethargy
  • coma
  • global developmental delay
  • hypertonia
  • abnormality of the cerebellum
  • muscle weakness
  • growth delay
  • alopecia
  • apnea
  • generalized myoclonic seizures
  • recurrent fungal infections
  • hyperventilation
  • metabolic ketoacidosis
  • laryngeal stridor
  • iris hypopigmentation
  • perioral eczema

HPO human phenotypes related to Biotinidase Deficiency:

(show all 43)
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 sensorineural hearing impairment HP:0000407
20 conjunctivitis HP:0000509
21 visual loss HP:0000572
22 optic atrophy HP:0000648
23 skin rash HP:0000988
24 seborrheic dermatitis HP:0001051
25 seizures HP:0001250
26 ataxia HP:0001251
27 muscular hypotonia HP:0001252
28 lethargy HP:0001254
29 global developmental delay HP:0001263
30 recurrent skin infections HP:0001581
31 alopecia HP:0001596
32 splenomegaly HP:0001744
33 hyperammonemia HP:0001987
34 organic aciduria HP:0001992
35 vomiting HP:0002013
36 diarrhea HP:0002014
37 apnea HP:0002104
38 hepatomegaly HP:0002240
39 diffuse cerebral atrophy HP:0002506
40 tachypnea HP:0002789
41 metabolic ketoacidosis HP:0005979
42 feeding difficulties in infancy HP:0008872
43 diffuse cerebellar atrophy HP:0100275

UMLS symptoms related to Biotinidase Deficiency:


ataxia, diarrhea, exanthema, hepatomegaly, lethargy, seizures, vomiting, epileptic aura, seizures, tonic, myoclonus, eyelid, seizures, focal, convulsion in childhood, unspecified visual loss

Drugs & Therapeutics for Biotinidase Deficiency

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MiconazolePhase 2357322916-47-84189
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
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
Micantin (nitrate)
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
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
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
2
Folic AcidNutraceutical414359-30-36037
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 (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
3
BiotinNutraceutical4058-85-5171548
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
4FolateNutraceutical4143

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 Deficiency25 23 BTD

Anatomical Context for Biotinidase Deficiency

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MalaCards organs/tissues related to Biotinidase Deficiency:

34
Skin, Cerebellum, Eye, Brain, 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 216)
idTitleAuthorsYear
1
Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn. (26656798)
2016
2
Forty-eight novel mutations causing biotinidase deficiency. (26810761)
2016
3
Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency. (27144235)
2016
4
Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency. (26169436)
2015
5
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. (25174816)
2014
6
Biotinidase deficiency in childhood. (24005734)
2013
7
High incidence of partial biotinidase deficiency cases in newborns of Greek origin. (23644139)
2013
8
Biotinidase deficiency in Pakistani children; what needs to be known and done. (22755269)
2012
9
A girl with spastic tetraparesis associated with biotinidase deficiency. (21571559)
2011
10
The neurology of biotinidase deficiency. (21696988)
2011
11
Profound biotinidase deficiency: a rare disease among native Swedes. (20224900)
2010
12
Analysis of mutations causing biotinidase deficiency. (20556795)
2010
13
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency. (15877202)
2005
14
Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. (15776412)
2005
15
Biotinidase deficiency: a treatable leukoencephalopathy. (15328559)
2004
16
Outcome in patients with profound biotinidase deficiency: relevance of newborn screening. (15230462)
2004
17
Screening for congenital hypothyroidism, phenylketonuria, galactosemia and biotinidase deficiency in a sample of mentally retarded patients in the city of Havana]. (12766862)
2003
18
Diagnosis and treatment of biotinidase deficiency-clinical study of six patients]. (14754524)
2003
19
Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency. (11865279)
2002
20
Seventeen novel mutations that cause profound biotinidase deficiency. (12359137)
2002
21
Mutations in BTD causing biotinidase deficiency. (11668630)
2001
22
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. (11388594)
2001
23
Cutaneous and neurologic manifestations of biotinidase deficiency. (10849128)
2000
24
Biotinidase deficiency--a treatable entity. (10932969)
2000
25
Reversible deafness caused by biotinidase deficiency. (11033293)
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
Prevalence study of biotinidase deficiency in newborns]. (9713119)
1998
29
Delayed-onset profound biotinidase deficiency. (9506660)
1998
30
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
31
Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure. (8894703)
1996
32
Infantile spasms as the initial symptom of biotinidase deficiency. (8283357)
1994
33
Biotinidase deficiency in Scotland. (8050627)
1994
34
Biotinidase deficiency. Progressive encephalopathy curable with biotin]. (8053766)
1993
35
Characterization of seizures associated with biotinidase deficiency. (8327137)
1993
36
Reversal of brain atrophy with biotin treatment in biotinidase deficiency. (8232780)
1993
37
Neonatal screening for biotinidase deficiency. (1503382)
1992
38
Rat as a potential model for hearing loss in biotinidase deficiency. (2018287)
1991
39
Biotinidase deficiency. Results of neonatal screening 1985-1989 in Lower Saxony]. (1896047)
1991
40
Partial biotinidase deficiency: clinical and biochemical features. (2295967)
1990
41
Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn. (2502673)
1989
42
A qualitative assessment of biotinidase deficiency. (3500673)
1987
43
Screening for biotinidase deficiency. (3702961)
1986
44
Biotinidase deficiency: metabolites in CSF. (3099073)
1986
45
Neonatal screening for biotinidase deficiency: results of a 1-year pilot study. (3944695)
1986
46
Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program. (4000223)
1985
47
Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency. (3926500)
1985
48
Biotinidase deficiency: a novel vitamin recycling defect. (3930841)
1985
49
Potential for prenatal diagnosis of biotinidase deficiency. (6483793)
1984
50
Phenotypic variation in biotinidase deficiency. (6875714)
1983

Variations for Biotinidase Deficiency

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

68
id Symbol AA change Variation ID SNP ID
1BTDp.Phe128ValVAR_005113rs397514355
2BTDp.Ala171ThrVAR_005114rs13073139
3BTDp.Asp228TyrVAR_005115rs397514380
4BTDp.His323ArgVAR_005116rs397507176
5BTDp.Asp444HisVAR_005117rs13078881
6BTDp.Gly451AspVAR_005118rs397514419
7BTDp.Gln456HisVAR_005119rs80338685
8BTDp.Thr532MetVAR_005120rs104893688
9BTDp.Arg538CysVAR_005121rs80338686

Clinvar genetic disease variations for Biotinidase Deficiency:

5 (show all 168)
id Gene Variation Type Significance SNP ID Assembly Location
1BTDNM_000060.4(BTD): c.1207T> G (p.Phe403Val)single nucleotide variantPathogenicrs104893686GRCh37Chr 3, 15686570: 15686570
2BTDNM_000060.4(BTD): c.257T> G (p.Met86Arg)single nucleotide variantPathogenicrs587783002GRCh37Chr 3, 15677143: 15677143
3BTDNM_000060.4(BTD): c.455C> G (p.Thr152Arg)single nucleotide variantPathogenicrs587783003GRCh37Chr 3, 15683560: 15683560
4BTDNM_000060.4(BTD): c.683A> G (p.Asp228Gly)single nucleotide variantPathogenicrs587783004GRCh37Chr 3, 15686046: 15686046
5BTDNM_000060.4(BTD): c.701C> T (p.Thr234Ile)single nucleotide variantLikely pathogenic, Pathogenicrs587783005GRCh37Chr 3, 15686064: 15686064
6BTDNM_000060.4(BTD): c.898A> C (p.Asn300His)single nucleotide variantPathogenicrs587783006GRCh37Chr 3, 15686261: 15686261
7BTDNM_000060.4(BTD): c.1372dupT (p.Cys458Leufs)duplicationPathogenicrs587783007GRCh37Chr 3, 15686735: 15686735
8BTDNM_000060.4(BTD): c.310-15delTdeletionPathogenicrs587783008GRCh37Chr 3, 15683400: 15683400
9BTDNM_000060.4(BTD)indelLikely pathogenicrs672601248GRCh37Chr 3, 15686590: 15686604
10BTDNM_000060.4(BTD): c.202_205dupATCC (p.Leu69Hisfs)duplicationLikely pathogenicrs786204672GRCh37Chr 3, 15677088: 15677091
11BTDNM_000060.4(BTD): c.98_104delGCGGCTGinsTCC (p.Cys33Phefs)indelPathogenicrs80338684GRCh37Chr 3, 15676984: 15676990
12BTDBTD, 15-BP DEL/11-BP INSindelPathogenic
13BTDNM_000060.4(BTD): c.1595C> T (p.Thr532Met)single nucleotide variantPathogenicrs104893688GRCh37Chr 3, 15686958: 15686958
14BTDNM_000060.4(BTD): c.1612C> T (p.Arg538Cys)single nucleotide variantPathogenicrs80338686GRCh37Chr 3, 15686975: 15686975
15BTDNM_000060.4(BTD): c.100G> A (p.Gly34Ser)single nucleotide variantPathogenicrs119103232GRCh37Chr 3, 15676986: 15676986
16BTDNM_000060.4(BTD): c.1330G> C (p.Asp444His)single nucleotide variantPathogenicrs13078881GRCh37Chr 3, 15686693: 15686693
17BTDNM_000060.4(BTD): c.755A> G (p.Asp252Gly)single nucleotide variantPathogenicrs28934601GRCh37Chr 3, 15686118: 15686118
18BTDNM_000060.4(BTD): c.1368A> C (p.Gln456His)single nucleotide variantPathogenicrs80338685GRCh37Chr 3, 15686731: 15686731
19BTDNM_000060.4(BTD): c.1466A> C (p.Asn489Thr)single nucleotide variantPathogenicrs104893692GRCh37Chr 3, 15686829: 15686829
20BTDNM_000060.4(BTD): c.1330G> C (p.Asp444His)single nucleotide variantPathogenicrs13078881GRCh37Chr 3, 15686693: 15686693
21BTDNM_000060.4(BTD): c.235C> T (p.Arg79Cys)single nucleotide variantPathogenicrs104893687GRCh37Chr 3, 15677121: 15677121
22BTDNM_000060.4(BTD): c.1157G> A (p.Trp386Ter)single nucleotide variantPathogenicrs397514401GRCh37Chr 3, 15686520: 15686520
23BTDNM_000060.4(BTD): c.1271G> C (p.Cys424Ser)single nucleotide variantPathogenicrs397514335GRCh37Chr 3, 15686634: 15686634
24BTDNM_000060.4(BTD): c.136G> T (p.Glu46Ter)single nucleotide variantPathogenicrs397514336GRCh37Chr 3, 15677022: 15677022
25BTDNM_000060.4(BTD): c.171T> G (p.Tyr57Ter)single nucleotide variantPathogenicrs397514339GRCh37Chr 3, 15677057: 15677057
26BTDNM_000060.4(BTD): c.184G> T (p.Val62Leu)single nucleotide variantPathogenicrs397507170GRCh37Chr 3, 15677070: 15677070
27BTDNM_000060.4(BTD): c.190G> A (p.Glu64Lys)single nucleotide variantPathogenicrs397514340GRCh37Chr 3, 15677076: 15677076
28BTDH65fsinsertionPathogenic
29BTDNM_000060.4(BTD): c.194A> G (p.His65Arg)single nucleotide variantPathogenicrs397514341GRCh37Chr 3, 15677080: 15677080
30BTDNM_000060.4(BTD): c.245C> T (p.Ala82Val)single nucleotide variantPathogenicrs397507171GRCh37Chr 3, 15677131: 15677131
31BTDNM_000060.4(BTD): c.246_254delCTTGGAGCT (p.Leu83_Leu85del)deletionPathogenicrs397514346GRCh37Chr 3, 15677132: 15677140
32BTDNM_000060.4(BTD): c.248T> C (p.Leu83Ser)single nucleotide variantPathogenicrs397514347GRCh37Chr 3, 15677134: 15677134
33BTDNM_000060.4(BTD): c.262C> T (p.Gln88Ter)single nucleotide variantPathogenicrs151071780GRCh37Chr 3, 15677148: 15677148
34BTDNM_000060.4(BTD): c.278A> G (p.Tyr93Cys)single nucleotide variantPathogenicrs397514348GRCh37Chr 3, 15677164: 15677164
35BTDNM_000060.4(BTD): c.1330G> C (p.Asp444His)single nucleotide variantPathogenicrs13078881GRCh37Chr 3, 15686693: 15686693
36BTDNM_000060.4(BTD): c.298G> A (p.Ala100Thr)single nucleotide variantPathogenicrs397514350GRCh37Chr 3, 15677184: 15677184
37BTDNM_000060.4(BTD): c.310G> T (p.Asp104Tyr)single nucleotide variantPathogenicrs397514351GRCh37Chr 3, 15683415: 15683415
38BTDNM_000060.4(BTD): c.334G> C (p.Glu112Gln)single nucleotide variantPathogenicrs397514352GRCh37Chr 3, 15683439: 15683439
39BTDNM_000060.4(BTD): c.334G> A (p.Glu112Lys)single nucleotide variantPathogenicrs397514352GRCh37Chr 3, 15683439: 15683439
40BTDNM_000060.4(BTD): c.341G> T (p.Gly114Val)single nucleotide variantPathogenicrs375712490GRCh37Chr 3, 15683446: 15683446
41BTDNM_000060.4(BTD): c.356A> G (p.Asn119Ser)single nucleotide variantPathogenicrs397514353GRCh37Chr 3, 15683461: 15683461
42BTDNM_000060.4(BTD): c.364A> G (p.Arg122Gly)single nucleotide variantPathogenicrs397514354GRCh37Chr 3, 15683469: 15683469
43BTDNM_000060.4(BTD): c.382T> G (p.Phe128Val)single nucleotide variantPathogenicrs397514355GRCh37Chr 3, 15683487: 15683487
44BTDNM_000060.4(BTD): c.393delC (p.Phe131Leufs)deletionPathogenicrs397514356GRCh37Chr 3, 15683498: 15683498
45BTDNM_000060.4(BTD): c.424C> A (p.Pro142Thr)single nucleotide variantPathogenicrs397514357GRCh37Chr 3, 15683529: 15683529
46BTDNM_000060.4(BTD): c.443G> A (p.Arg148His)single nucleotide variantPathogenicrs367902696GRCh37Chr 3, 15683548: 15683548
47BTDNM_000060.4(BTD): c.445T> C (p.Phe149Leu)single nucleotide variantPathogenicrs397514359GRCh37Chr 3, 15683550: 15683550
48BTDNM_000060.4(BTD): c.454A> C (p.Thr152Pro)single nucleotide variantPathogenicrs374681173GRCh37Chr 3, 15683559: 15683559
49BTDNM_000060.4(BTD): c.459G> A (p.Glu153Glu=)single nucleotide variantPathogenicrs397514360GRCh37Chr 3, 15683564: 15683564
50BTDNM_000060.4(BTD): c.466C> T (p.Gln156Ter)single nucleotide variantPathogenicrs397514362GRCh37Chr 3, 15685829: 15685829
51BTDNM_000060.4(BTD): c.469C> T (p.Arg157Cys)single nucleotide variantPathogenicrs397514363GRCh37Chr 3, 15685832: 15685832
52BTDNM_000060.4(BTD): c.485C> T (p.Ala162Val)single nucleotide variantPathogenicrs397514364GRCh37Chr 3, 15685848: 15685848
53BTDNM_000060.4(BTD): c.490_491delAG (p.Arg164Glyfs)deletionPathogenicrs397514365GRCh37Chr 3, 15685853: 15685854
54BTDNM_000060.4(BTD): c.1330G> C (p.Asp444His)single nucleotide variantPathogenicrs13078881GRCh37Chr 3, 15686693: 15686693
55BTDNM_000060.4(BTD): c.515A> G (p.Asn172Ser)single nucleotide variantPathogenicrs397514366GRCh37Chr 3, 15685878: 15685878
56BTDNM_000060.4(BTD): c.528G> T (p.Lys176Asn)single nucleotide variantPathogenicrs397514367GRCh37Chr 3, 15685891: 15685891
57BTDNM_000060.4(BTD): c.544delA (p.Ser182Valfs)deletionPathogenicrs397514368GRCh37Chr 3, 15685907: 15685907
58BTDNM_000060.4(BTD): c.557G> A (p.Cys186Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs397514369GRCh37Chr 3, 15685920: 15685920
59BTDNM_000060.4(BTD): c.583A> G (p.Asn195Asp)single nucleotide variantPathogenicrs397514370GRCh37Chr 3, 15685946: 15685946
60BTDNM_000060.4(BTD): c.584A> G (p.Asn195Ser)single nucleotide variantPathogenicrs397514371GRCh37Chr 3, 15685947: 15685947
61BTDNM_000060.4(BTD): c.587C> G (p.Thr196Arg)single nucleotide variantPathogenicrs397514372GRCh37Chr 3, 15685950: 15685950
62BTDNM_000060.4(BTD): c.594_596delCGT (p.Val199del)deletionPathogenicrs397514373GRCh37Chr 3, 15685957: 15685959
63BTDNM_000060.4(BTD): c.594delC (p.Val199Cysfs)deletionPathogenicrs397514374GRCh37Chr 3, 15685957: 15685957
64BTDNM_000060.4(BTD): c.595G> A (p.Val199Met)single nucleotide variantPathogenicrs397514375GRCh37Chr 3, 15685958: 15685958
65BTDNM_000060.4(BTD): c.605A> T (p.Asn202Ile)single nucleotide variantPathogenicrs397514376GRCh37Chr 3, 15685968: 15685968
66BTDNM_000060.4(BTD): c.631C> T (p.Arg211Cys)single nucleotide variantPathogenicrs372844636GRCh37Chr 3, 15685994: 15685994
67BTDNM_000060.4(BTD): c.632G> A (p.Arg211His)single nucleotide variantPathogenicrs112195009GRCh37Chr 3, 15685995: 15685995
68BTDNM_000060.4(BTD): c.1330G> C (p.Asp444His)single nucleotide variantPathogenicrs13078881GRCh37Chr 3, 15686693: 15686693
69BTDNM_000060.4(BTD): c.643C> T (p.Leu215Phe)single nucleotide variantPathogenicrs190386869GRCh37Chr 3, 15686006: 15686006
70BTDNM_000060.4(BTD): c.652G> C (p.Glu218Gln)single nucleotide variantPathogenicrs397514378GRCh37Chr 3, 15686015: 15686015
71BTDNM_000060.4(BTD): c.654G> C (p.Glu218Asp)single nucleotide variantPathogenicrs397514379GRCh37Chr 3, 15686017: 15686017
72BTDNM_000060.4(BTD): c.682G> T (p.Asp228Tyr)single nucleotide variantPathogenicrs397514380GRCh37Chr 3, 15686045: 15686045
73BTDNM_000060.4(BTD): c.709G> A (p.Ala237Thr)single nucleotide variantPathogenicrs397514381GRCh37Chr 3, 15686072: 15686072
74BTDNM_000060.4(BTD): c.743T> C (p.Ile248Thr)single nucleotide variantPathogenicrs397514382GRCh37Chr 3, 15686106: 15686106
75BTDNM_000060.4(BTD): c.757C> T (p.Pro253Ser)single nucleotide variantPathogenicrs397514383GRCh37Chr 3, 15686120: 15686120
76BTDNM_000060.4(BTD): c.764T> C (p.Ile255Thr)single nucleotide variantPathogenicrs397514384GRCh37Chr 3, 15686127: 15686127
77BTDNM_000060.4(BTD): c.794A> T (p.His265Leu)single nucleotide variantPathogenicrs397514385GRCh37Chr 3, 15686157: 15686157
78BTDNM_000060.4(BTD): c.794A> T (p.His265Leu)single nucleotide variantPathogenicrs397514385GRCh37Chr 3, 15686157: 15686157
79BTDNM_000060.4(BTD): c.814T> G (p.Trp272Gly)single nucleotide variantPathogenicrs397514387GRCh37Chr 3, 15686177: 15686177
80BTDNM_000060.4(BTD): c.832C> G (p.Leu278Val)single nucleotide variantPathogenicrs397514388GRCh37Chr 3, 15686195: 15686195
81BTDNM_000060.4(BTD): c.833T> C (p.Leu278Pro)single nucleotide variantPathogenicrs397514389GRCh37Chr 3, 15686196: 15686196
82BTDNM_000060.4(BTD): c.836T> G (p.Leu279Trp)single nucleotide variantPathogenicrs397514390GRCh37Chr 3, 15686199: 15686199
83BTDNM_000060.4(BTD): c.880A> G (p.Ile294Val)single nucleotide variantPathogenicrs35976361GRCh37Chr 3, 15686243: 15686243
84BTDNM_000060.4(BTD): c.887T> G (p.Val296Gly)single nucleotide variantPathogenicrs397514391GRCh37Chr 3, 15686250: 15686250
85BTDNM_000060.4(BTD): c.896C> T (p.Ala299Val)single nucleotide variantPathogenicrs397514392GRCh37Chr 3, 15686259: 15686259
86BTDNM_000060.4(BTD): c.929G> A (p.Gly310Glu)single nucleotide variantPathogenicrs397514393GRCh37Chr 3, 15686292: 15686292
87BTDNM_000060.4(BTD): c.932G> A (p.Ser311Asn)single nucleotide variantPathogenicrs397514394GRCh37Chr 3, 15686295: 15686295
88BTDNM_000060.4(BTD): c.933delT (p.Ser311Argfs)deletionLikely pathogenic, Pathogenicrs397514395GRCh37Chr 3, 15686296: 15686296
89BTDNM_000060.4(BTD): c.933T> G (p.Ser311Arg)single nucleotide variantPathogenicrs397514386GRCh37Chr 3, 15686296: 15686296
90BTDNM_000060.4(BTD): c.934G> A (p.Gly312Ser)single nucleotide variantPathogenicrs397514396GRCh37Chr 3, 15686297: 15686297
91BTDNM_000060.4(BTD): c.935G> A (p.Gly312Asp)single nucleotide variantPathogenicrs377651057GRCh37Chr 3, 15686298: 15686298
92BTDNM_000060.4(BTD): c.1049delC (p.Ala350Glufs)deletionPathogenicrs397514397GRCh37Chr 3, 15686412: 15686412
93BTDNM_000060.4(BTD): c.1052delC (p.Thr351Lysfs)deletionPathogenicrs397514398GRCh37Chr 3, 15686415: 15686415
94BTDNM_000060.4(BTD): c.1096T> C (p.Ser366Pro)single nucleotide variantPathogenicrs397514399GRCh37Chr 3, 15686459: 15686459
95BTDNM_000060.4(BTD): c.1106C> T (p.Pro369Leu)single nucleotide variantPathogenicrs397514400GRCh37Chr 3, 15686469: 15686469
96BTDNM_000060.4(BTD): c.1191_1192delGA (p.Glu397Aspfs)deletionPathogenicrs397514403GRCh37Chr 3, 15686554: 15686555
97BTDNM_000060.4(BTD): c.1205A> G (p.Asn402Ser)single nucleotide variantPathogenicrs201023772GRCh37Chr 3, 15686568: 15686568
98BTDNM_000060.4(BTD): c.1211C> T (p.Thr404Ile)single nucleotide variantPathogenicrs397514405GRCh37Chr 3, 15686574: 15686574
99BTDNM_000060.4(BTD): c.1214T> C (p.Leu405Pro)single nucleotide variantPathogenicrs397514406GRCh37Chr 3, 15686577: 15686577
100BTDNM_000060.4(BTD): c.1227_1241delGGGAAAGGAAGGCTAins11indelPathogenicrs672601248GRCh37Chr 3, 15686590: 15686604
101BTDNM_000060.4(BTD): c.1239delC (p.Tyr414Ilefs)deletionPathogenicrs397514407GRCh37Chr 3, 15686602: 15686602
102BTDNM_000060.4(BTD): c.1252T> C (p.Cys418Arg)single nucleotide variantPathogenicrs397514408GRCh37Chr 3, 15686615: 15686615
103BTDNM_000060.4(BTD): c.1249G> T (p.Val417Phe)single nucleotide variantPathogenicrs397514409GRCh37Chr 3, 15686612: 15686612
104BTDNM_000060.4(BTD): c.1253G> C (p.Cys418Ser)single nucleotide variantPathogenicrs397514410GRCh37Chr 3, 15686616: 15686616
105BTDNM_000060.4(BTD): c.1264dupC (p.Leu422Profs)duplicationPathogenicrs397514411GRCh37Chr 3, 15686627: 15686627
106BTDNM_000060.4(BTD): c.1267T> C (p.Cys423Arg)single nucleotide variantPathogenicrs397514412GRCh37Chr 3, 15686630: 15686630
107BTDNM_000060.4(BTD): c.1268G> C (p.Cys423Ser)single nucleotide variantPathogenicrs397514413GRCh37Chr 3, 15686631: 15686631
108BTDNM_000060.4(BTD): c.1271G> A (p.Cys424Tyr)single nucleotide variantPathogenicrs397514335GRCh37Chr 3, 15686634: 15686634
109BTDNM_000060.4(BTD): c.1271G> C (p.Cys424Ser)single nucleotide variantPathogenicrs397514335GRCh37Chr 3, 15686634: 15686634
110BTDNM_000060.4(BTD): c.1275T> G (p.Tyr425Ter)single nucleotide variantPathogenicrs397514414GRCh37Chr 3, 15686638: 15686638
111BTDNM_000060.4(BTD): c.1284C> A (p.Tyr428Ter)single nucleotide variantPathogenicrs35145938GRCh37Chr 3, 15686647: 15686647
112BTDNM_000060.4(BTD): c.1313A> G (p.Tyr438Cys)single nucleotide variantPathogenicrs397514415GRCh37Chr 3, 15686676: 15686676
113BTDNM_000060.4(BTD): c.1314T> A (p.Tyr438Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397514416GRCh37Chr 3, 15686677: 15686677
114BTDNM_000060.4(BTD): c.1333G> A (p.Gly445Arg)single nucleotide variantPathogenicrs397514417GRCh37Chr 3, 15686696: 15686696
115BTDNM_000060.4(BTD): c.1334G> T (p.Gly445Val)single nucleotide variantPathogenicrs397514402GRCh37Chr 3, 15686697: 15686697
116BTDNM_000060.4(BTD): c.1339C> T (p.His447Tyr)single nucleotide variantPathogenicrs397514418GRCh37Chr 3, 15686702: 15686702
117BTDNM_000060.4(BTD): c.1352G> A (p.Gly451Asp)single nucleotide variantPathogenicrs397514419GRCh37Chr 3, 15686715: 15686715
118BTDNM_000060.4(BTD): c.1369G> A (p.Val457Met)single nucleotide variantPathogenicrs146600671GRCh37Chr 3, 15686732: 15686732
119BTDNM_000060.4(BTD): c.1384delA (p.Arg462Glyfs)deletionPathogenicrs397514420GRCh37Chr 3, 15686747: 15686747
120BTDNM_000060.4(BTD): c.1388G> A (p.Cys463Tyr)single nucleotide variantPathogenicrs397514421GRCh37Chr 3, 15686751: 15686751
121BTDNM_000060.4(BTD): c.1432G> C (p.Ala478Pro)single nucleotide variantPathogenicrs181396238GRCh37Chr 3, 15686795: 15686795
122BTDNM_000060.4(BTD): c.1455C> G (p.His485Gln)single nucleotide variantPathogenicrs201604102GRCh37Chr 3, 15686818: 15686818
123BTDNM_000060.4(BTD): c.1459T> C (p.Trp487Arg)single nucleotide variantPathogenicrs397514422GRCh37Chr 3, 15686822: 15686822
124BTDNM_000060.4(BTD): c.1459delT (p.Trp487Glyfs)deletionPathogenicrs397514423GRCh37Chr 3, 15686822: 15686822
125BTDNM_000060.4(BTD): c.1463G> A (p.Gly488Asp)single nucleotide variantPathogenicrs397514424GRCh37Chr 3, 15686826: 15686826
126BTDNM_000060.4(BTD): c.1489C> T (p.Pro497Ser)single nucleotide variantPathogenicrs138818907GRCh37Chr 3, 15686852: 15686852
127BTDNM_000060.4(BTD): c.1493dupT (p.Leu498Phefs)duplicationPathogenicrs397514425GRCh37Chr 3, 15686856: 15686856
128BTDNM_000060.4(BTD): c.1511T> A (p.Met504Lys)single nucleotide variantPathogenicrs397514426GRCh37Chr 3, 15686874: 15686874
129BTDNM_000060.4(BTD): c.1531C> G (p.Gln511Glu)single nucleotide variantPathogenicrs397514427GRCh37Chr 3, 15686894: 15686894
130BTDNM_000060.4(BTD): c.1610G> A (p.Gly537Glu)single nucleotide variantPathogenicrs397514428GRCh37Chr 3, 15686973: 15686973
131BTDNM_000060.4(BTD): c.1613G> A (p.Arg538His)single nucleotide variantPathogenicrs397514429GRCh37Chr 3, 15686976: 15686976
132BTDNM_000060.4(BTD): c.1616dupT (p.Leu539Phefs)duplicationPathogenicrs397514430GRCh37Chr 3, 15686979: 15686979
133BTDNM_000060.4(BTD): c.1619A> G (p.Tyr540Cys)single nucleotide variantPathogenicrs397514431GRCh37Chr 3, 15686982: 15686982
134BTDNM_000060.4(BTD): c.1627G> C (p.Asp543His)single nucleotide variantPathogenicrs397514432GRCh37Chr 3, 15686990: 15686990
135BTDNM_000060.4(BTD): c.1629C> A (p.Asp543Glu)single nucleotide variantLikely pathogenicrs146136265GRCh37Chr 3, 15686992: 15686992
136BTDNM_000060.4(BTD): c.664G> C (p.Asp222His)single nucleotide variantPathogenicrs200337373GRCh37Chr 3, 15686027: 15686027
137BTDNM_000060.4(BTD): c.1001T> A (p.Ile334Asn)single nucleotide variantPathogenicrs397514433GRCh37Chr 3, 15686364: 15686364
138BTDNM_000060.4(BTD): c.1046A> C (p.Asn349Thr)single nucleotide variantPathogenicrs200327983GRCh37Chr 3, 15686409: 15686409
139BTDNM_000060.4(BTD): c.1432G> A (p.Ala478Thr)single nucleotide variantPathogenicrs181396238GRCh37Chr 3, 15686795: 15686795
140BTDNM_000060.4(BTD): c.559C> T (p.Pro187Ser)single nucleotide variantPathogenicrs397507173GRCh37Chr 3, 15685922: 15685922
141BTDNM_000060.4(BTD): c.629A> G (p.Tyr210Cys)single nucleotide variantLikely pathogenic, Pathogenicrs397507174GRCh37Chr 3, 15685992: 15685992
142BTDNM_000060.4(BTD): c.968A> G (p.His323Arg)single nucleotide variantPathogenicrs397507176GRCh37Chr 3, 15686331: 15686331
143BTDNM_000060.4(BTD): c.734G> A (p.Cys245Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs397507175GRCh37Chr 3, 15686097: 15686097
144BTDNM_000060.4(BTD): c.326T> G (p.Val109Gly)single nucleotide variantPathogenicrs397507172GRCh37Chr 3, 15683431: 15683431
145BTDNM_000060.4(BTD): c.470G> A (p.Arg157His)single nucleotide variantPathogenicrs146015592GRCh37Chr 3, 15685833: 15685833
146BTDNM_000060.4(BTD): c.511G> A (p.Ala171Thr)single nucleotide variantPathogenicrs13073139GRCh37Chr 3, 15685874: 15685874
147BTDNM_000060.4(BTD): c.212T> C (p.Leu71Pro)single nucleotide variantPathogenicrs397514333GRCh37Chr 3, 15677098: 15677098
148BTDNM_000060.4(BTD): c.128A> G (p.His43Arg)single nucleotide variantPathogenicrs146011150GRCh37Chr 3, 15677014: 15677014
149BTDNM_000060.4(BTD): c.245C> A (p.Ala82Asp)single nucleotide variantPathogenicrs397507171GRCh37Chr 3, 15677131: 15677131
150BTDNM_000060.4(BTD): c.184G> A (p.Val62Met)single nucleotide variantPathogenicrs397507170GRCh37Chr 3, 15677070: 15677070
151BTDNM_000060.4(BTD): c.98_104delGCGGCTGinsTCC (p.Cys33Phefs)indelPathogenicrs80338684GRCh37Chr 3, 15676984: 15676990
152BTDNM_000060.4(BTD): c.236G> A (p.Arg79His)single nucleotide variantPathogenicrs397514343GRCh37Chr 3, 15677122: 15677122
153BTDNM_000060.4(BTD): c.235C> T (p.Arg79Cys)single nucleotide variantPathogenicrs104893687GRCh37Chr 3, 15677121: 15677121
154BTDNM_000060.4(BTD): c.235C> T (p.Arg79Cys)single nucleotide variantPathogenicrs104893687GRCh37Chr 3, 15677121: 15677121
155BTDNM_000060.4(BTD): c.236G> A (p.Arg79His)single nucleotide variantPathogenicrs397514343GRCh37Chr 3, 15677122: 15677122
156BTDNM_000060.4(BTD): c.1330G> C (p.Asp444His)single nucleotide variantPathogenicrs13078881GRCh37Chr 3, 15686693: 15686693
157BTDNM_000060.4(BTD): c.1158G> A (p.Trp386Ter)single nucleotide variantPathogenicrs397514434GRCh37Chr 3, 15686521: 15686521
158BTDNM_000060.4(BTD): c.1334G> T (p.Gly445Val)single nucleotide variantPathogenicrs397514402GRCh37Chr 3, 15686697: 15686697
159BTDNM_000060.4(BTD): c.1241_1252delATCTCCACGTCT (p.Tyr414_Val417del)deletionPathogenicrs397514404GRCh37Chr 3, 15686604: 15686615
160BTDNM_000060.4(BTD): c.192G> C (p.Glu64Asp)single nucleotide variantPathogenicrs397514436GRCh37Chr 3, 15677078: 15677078
161BTDNM_000060.4(BTD): c.518T> G (p.Leu173Arg)single nucleotide variantPathogenicrs397514437GRCh37Chr 3, 15685881: 15685881
162BTDNM_000060.4(BTD): c.758C> T (p.Pro253Leu)single nucleotide variantPathogenicrs397514438GRCh37Chr 3, 15686121: 15686121
163BTDNM_000060.4(BTD): c.1237G> A (p.Gly413Ser)single nucleotide variantPathogenicrs374141881GRCh37Chr 3, 15686600: 15686600
164BTDNM_000060.4(BTD): c.407dupA (p.Val137Glyfs)duplicationPathogenicrs397514439GRCh37Chr 3, 15683512: 15683512
165BTDNM_000060.4(BTD): c.641A> G (p.Asn214Ser)single nucleotide variantPathogenicrs397514377GRCh37Chr 3, 15686004: 15686004
166BTDNM_000060.4(BTD): c.1394dupG (p.Leu466Serfs)duplicationPathogenicrs397514440GRCh37Chr 3, 15686757: 15686757
167BTDNM_000060.4(BTD): c.1508_1512delGGATG (p.Gly503Aspfs)deletionPathogenicrs398123138GRCh37Chr 3, 15686871: 15686875
168BTDNM_000060.4(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:

idSuper pathwaysScoreTop Affiliating Genes
19.6BTD, HLCS
2
Show member pathways
9.1ACADM, PCCB
3
Show member pathways
9.1ACADM, PCCB
49.1ACADM, PCCB
5
Show member pathways
9.0ACADM, LPL
6
Show member pathways
9.0ACADM, LPL
7
Show member pathways
8.5ACADM, LPL, PCCB
8
Show member pathways
8.5BTD, HLCS, LPL, PCCB
9
Show member pathways
7.6ACADM, BTD, HLCS, LPL, PCCB

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:00057598.7ACADM, BTD, PCCB

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

idNameGO IDScoreTop Affiliating Genes
1biotin metabolic processGO:00067689.3BTD, HLCS, PCCB
2response to glucoseGO:00097499.3EIF2B4, LPL
3response to coldGO:00094098.9ACADM, LPL

Sources for Biotinidase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet