BTD DEFICIENCY
MCID: BTN003
MIFTS: 57

Biotinidase Deficiency (BTD DEFICIENCY) malady

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

Aliases & Classifications for Biotinidase Deficiency

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Biotinidase Deficiency:

Name: Biotinidase Deficiency 52 11 71 23 48 24 25 54 70 12 50 39 13 68
Late-Onset Multiple Carboxylase Deficiency 11 23 48 24 25 54 70
Btd Deficiency 11 48 25 54 70
Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency 48 24 25
Multiple Carboxylase Deficiency, Juvenile-Onset 70 68
Juvenile-Onset Multiple Carboxylase Deficiency 11 54
Multiple Carboxylase Deficiency, Late-Onset 25 70
Deficiency of Biotinidase 11 27
 
Biotin Deficiency 48 68
Biotinidase Deficiency Multiple Carboxylase Deficiency, Late-Onset 52
Carboxylase Deficiency, Multiple, Late-Onset 25
Biotin Deficiency Disease 68
Mcd Juvenile Form 70
Late-Onset Mcd 70
Biotinidase 12
Biot 25

Characteristics:

Orphanet epidemiological data:

54
biotinidase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal

HPO:

64
biotinidase deficiency:
Inheritance: autosomal recessive inheritance

GeneReviews:

23
Penetrance: almost all children with profound biotinidase deficiency become symptomatic or are at risk of becoming symptomatic if not treated...


Classifications:



External Ids:

OMIM52 253260
Disease Ontology11 DOID:856
ICD1030 D81.810
MeSH39 D028921
NCIt45 C84598
SNOMED-CT62 124513002, 8808004
Orphanet54 ORPHA79241
ICD10 via Orphanet31 E53.8
MESH via Orphanet40 D028921
UMLS via Orphanet69 C0220754

Summaries for Biotinidase Deficiency

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NIH Rare Diseases:48 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 biotin deficiency, and has symptoms including ataxia, ataxia and diarrhea. An important gene associated with Biotinidase Deficiency is BTD (Biotinidase), and among its related pathways are Biotin metabolism and Mitochondrial Fatty Acid Beta-Oxidation. Affiliated tissues include skin, cerebellum and brain.

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

Genetics Home Reference:25 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:52 Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder characterized primarily by cutaneous... (253260) more...

UniProtKB/Swiss-Prot:70 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:71 Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from... more...

GeneReviews for NBK1322

Related Diseases for Biotinidase Deficiency

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Diseases related to Biotinidase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1holocarboxylase synthetase deficiency11.1
2biotin deficiency10.9
3anuria10.1BTD, HLCS
4acute insulin response10.1ACADM, BTD
5midface dysplasia10.0BTD, HLCS
6chondrocalcinosis with early-onset osteoarthritis10.0BTD, LPL
7obesity, morbid, due to leptin receptor deficiency10.0ACADM, BTD
8borderline glaucoma10.0ACADM, PCCB
9leopard syndrome 110.0ACADM, BTD
10encephalopathy10.0
11first-degree atrioventricular block9.9BTD, HLCS, PCCB
12atrial fibrillation, familial, 49.9ACADM, BTD, HLCS
13neuromyelitis optica9.9
14neuropathy9.9
15retinitis pigmentosa 4, autosomal dominant or recessive9.9ACADM, HLCS, PCCB
16galactosemia9.8
17congenital hypothyroidism9.8
18hypothyroidism9.8
19cerebritis9.8
20multiple carboxylase deficiency9.8
21ataxia9.8
22cataract 20, multiple types9.8ACADM, LPL
23gum cancer9.7ACADM, BTD, HLCS, PCCB
24pain disorder9.7ACADM, BTD, HLCS, PCCB
25leigh syndrome9.7
26celiac disease9.7
27coffin-siris syndrome9.7
28phenylketonuria9.7
29lipoprotein lipase deficiency9.7
30leukemia9.7
31severe combined immunodeficiency9.7
32skin disease9.7
33basal ganglia calcification9.7
34respiratory failure9.7
35optic neuritis9.7
36candidiasis9.7
37neuritis9.7
38epilepsy9.7
39vaginitis9.7
40spinal cord disease9.7
41laryngitis9.7
42lactic acidosis9.7
43myopathy9.7
44paraplegia9.7
45auditory neuropathy9.7
46neuromyelitis optica spectrum disorder9.7
47hypertonia9.7
48hypotonia9.7
49spasticity9.7
50muscular dystrophy, limb-girdle, type ic9.2ACADM, BTD, EIF2B4, HLCS, LPL, PCCB

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



Diseases related to biotinidase deficiency

Symptoms & Phenotypes for Biotinidase Deficiency

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Symptoms by clinical synopsis from OMIM:

253260

Clinical features from OMIM:

253260

Human phenotypes related to Biotinidase Deficiency:

 54 64 (show all 40)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment64 54 Frequent (79-30%) HP:0000365
2 myopia64 54 Occasional (29-5%) HP:0000545
3 optic atrophy64 54 Frequent (79-30%) HP:0000648
4 keratoconjunctivitis64 54 Frequent (79-30%) HP:0001096
5 visual field defect64 54 Occasional (29-5%) HP:0001123
6 ataxia64 54 Frequent (79-30%) HP:0001251
7 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
8 lethargy64 54 Occasional (29-5%) HP:0001254
9 coma64 54 Occasional (29-5%) HP:0001259
10 global developmental delay64 54 Frequent (79-30%) HP:0001263
11 hypertonia64 54 Occasional (29-5%) HP:0001276
12 abnormality of the cerebellum54 Occasional (29-5%)
13 muscle weakness64 54 Occasional (29-5%) HP:0001324
14 growth delay64 54 Occasional (29-5%) HP:0001510
15 alopecia64 54 Frequent (79-30%) HP:0001596
16 apnea64 54 Occasional (29-5%) HP:0002104
17 generalized myoclonic seizures64 54 Very frequent (99-80%) HP:0002123
18 recurrent fungal infections64 54 Occasional (29-5%) HP:0002841
19 hyperventilation64 54 Occasional (29-5%) HP:0002883
20 metabolic ketoacidosis64 54 Very frequent (99-80%) HP:0005979
21 laryngeal stridor64 54 Occasional (29-5%) HP:0006511
22 iris hypopigmentation64 54 Occasional (29-5%) HP:0007730
23 perioral eczema64 54 Frequent (79-30%) HP:0011127
24 sensorineural hearing impairment64 HP:0000407
25 conjunctivitis64 HP:0000509
26 visual loss64 HP:0000572
27 skin rash64 HP:0000988
28 seborrheic dermatitis64 HP:0001051
29 seizures64 HP:0001250
30 recurrent skin infections64 HP:0001581
31 splenomegaly64 HP:0001744
32 hyperammonemia64 HP:0001987
33 organic aciduria64 HP:0001992
34 vomiting64 HP:0002013
35 diarrhea64 HP:0002014
36 hepatomegaly64 HP:0002240
37 diffuse cerebral atrophy64 HP:0002506
38 tachypnea64 HP:0002789
39 feeding difficulties in infancy64 HP:0008872
40 diffuse cerebellar atrophy64 HP:0100275

UMLS symptoms related to Biotinidase Deficiency:


ataxia, diarrhea, exanthema, lethargy, seizures, vomiting, unspecified visual loss

Drugs & Therapeutics for Biotinidase Deficiency

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

(show all 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Miconazoleapproved, investigational, vet_approvedPhase 2370622916-47-84189
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
Cyclosporineapproved, investigational, vet_approvedPhase 292279217-60-0, 59865-13-35284373, 6435893
Synonyms:
1c5f
1cyn
30024_FLUKA
30024_SIGMA
59865-13-3
79217-60-0
AC1L1EQW
AC1NQXJE
AC1NR4C4
AC1NUQK3
AC1NUZNC
AC1O5KOG
AC1Q2UDG
Ambap59865-13-3
Ambotz59865-13-3
Antibiotic S 7481F1
BMT-ABA-SAR-MLE-VAL-MLE-ALA-ALA-MLE-MLE-MVA
BMT-ABA-SAR-MLE-VAL-MLE-ALA-DAL-MLE-MLE-MVA
BPBio1_000496
BRD-A64290322-001-01-6
BRD-A69815203-001-04-3
BRD-K13533483-001-03-0
BSPBio_000450
BSPBio_001596
BSPBio_003186
C 3662
C05086
C1832_SIGMA
C3662_SIGMA
C62H111N11O12
CB-01-09 MMX
CHEBI:106343
CHEBI:328305
CHEBI:4031
CHEMBL160
CHEMBL386389
CHEMBL532318
CID2909
CID5280754
CID5284373
CID5458585
CID5497195
CID6435893
CSA
CYCLOSPORIN A (SEE ALSO TRANSGENIC MODEL EVALUATION (CYCLOSPORIN A))
CYCLOSPORIN A, USP
Ciclosporin
Ciclosporin (JP15)
Ciclosporina
Ciclosporine
Ciclosporinum
Cipol N
Cipol-N
Consupren
Consupren S
CsA
CsA & IFN.alpha.
CyA
Cyclokat
Cyclosporin
Cyclosporin A
Cyclosporin A & IFN.alpha.
Cyclosporin A Implant
Cyclosporin A, Tolypocladium inflatum
Cyclosporine (USP)
Cyclosporine A
Cyclosporine [USAN]
D00184
DE-076
DivK1c_000871
EU-0100242
Equoral
GNF-Pf-2808
Gengraf
Gengraf (TN)
HMS1569G12
HMS1791P18
HMS1921L20
HMS1989P18
HMS2089A09
HMS2092F06
HMS502L13
Helv Chim Acta 60: 1568 (1977)
 
I06-0379
I06-0966
IDI1_000871
KBio1_000871
KBio2_000780
KBio2_003348
KBio2_005916
KBio3_002686
KBioGR_001898
KBioSS_000780
LMPK14000003
LS-257
LS-58836
Lopac0_000242
MLS000028376
MLS001333756
MLS002153454
MLS002207033
Mitogard
Modusik-A
MolPort-000-760-988
MolPort-005-934-008
MolPort-006-705-994
NCGC00093704-01
NCGC00093704-02
NCGC00093704-03
NCGC00093704-04
NCGC00093704-05
NCGC00093704-06
NCGC00093704-07
NCGC00093704-08
NCGC00164258-01
NCGC00164258-02
NINDS_000871
NSC290193
Neoplanta
Neoral
Neoral (TN)
NeuroSTAT
Nova-22007
OL 27-400
OL-27400
OLO-400
Papilock
Prestwick2_000435
Prestwick3_000435
Prestwick_731
Pulminiq
Ramihyphin A
Restasis
Restasis (TN)
S-Neoral
S1514_Selleck
SDZ-OXL 400
SMR000058578
SPBio_001467
SPECTRUM1502202
ST-603
Sandimmun
Sandimmun Neoral
Sandimmune
Sandimmune (TN)
Sandimmune, Gengraf, Restasis, Atopica, Sangcya, Cyclosporine
Sang-2000
Sang-35
SangCyA
Sangcya
Sigmasporin
Sigmasporin Microoral
Spectrum2_001484
Spectrum3_001593
Spectrum4_001279
Spectrum5_001628
Spectrum_000300
TRANSGENIC MODEL EVALUATION (CYCLOSPORIN A)
Vekacia
Zyclorin
cyclophorine
cyclosporin A
cyclosporine
from Tolypocladium inflatum (Trichoderma polysporin)
nchembio.184-comp6
nchembio.301-comp5
nchembio.342-comp1
3Anti-Infective AgentsPhase 222062
4Antifungal AgentsPhase 23696
5Immunosuppressive AgentsPhase 213086
6Dermatologic AgentsPhase 25806
7Antirheumatic AgentsPhase 210956
8Calcineurin InhibitorsPhase 21622
9
Folic Acidapproved, nutraceutical, vet_approved439259-30-36037
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
10
Biotinapproved, nutraceutical4658-85-5171548
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
11Vitamins5282
12Trace Elements6001
13Vitamin B Complex4337
14Micronutrients6001
15Vitamin B9Nutraceutical4392
16Vitamin B7Nutraceutical46
17FolateNutraceutical4392

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 Deficiency27 24 BTD

Anatomical Context for Biotinidase Deficiency

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MalaCards organs/tissues related to Biotinidase Deficiency:

36
Skin, Cerebellum, Brain, Spinal cord, Eye, Pancreas

Publications for Biotinidase Deficiency

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Articles related to Biotinidase Deficiency:

(show top 50)    (show all 225)
idTitleAuthorsYear
1
Reply to the letter: Biotinidase deficiency masquerading as multiple sclerosis? (28337934)
2017
2
Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency. (28220409)
2017
3
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. (28498829)
2017
4
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency. (28281033)
2017
5
Biotinidase deficiency masquerading as multiple sclerosis? (28337933)
2017
6
Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency. (28356871)
2016
7
Forty-eight novel mutations causing biotinidase deficiency. (26810761)
2016
8
First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice. (27014582)
2016
9
Celiac Disease Presenting with Biotinidase Deficiency and Paraplegia. (26830281)
2016
10
Comment on: Childhood optic atrophy in biotinidase deficiency. (27688290)
2016
11
Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease. (27207447)
2016
12
Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. (27657684)
2016
13
Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population. (27845546)
2016
14
A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit. (27761288)
2016
15
Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn. (26656798)
2016
16
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations. (27329734)
2016
17
Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency. (27144235)
2016
18
Biotinidase deficiency and our champagne legacy. (26456103)
2015
19
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014). (26361991)
2015
20
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. (25795614)
2015
21
High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil. (25967232)
2015
22
Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency. (26169436)
2015
23
Brainstem and spinal cord lesions associated with skin changes and hearing loss: think of biotinidase deficiency. (25556014)
2015
24
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood. (26203071)
2015
25
Why screen newborns for profound and partial biotinidase deficiency? (25638506)
2015
26
Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report. (26221165)
2015
27
Mutations in BTD gene causing biotinidase deficiency: a regional report. (25423671)
2015
28
Biotinidase deficiency mimicking primary immune deficiencies. (25956498)
2015
29
Clinical utility gene card for: Biotinidase deficiency-update 2015. (26577040)
2015
30
Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder. (26037171)
2015
31
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss. (26358973)
2015
32
Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency. (24630269)
2014
33
Optic neuropathy due to biotinidase deficiency in a 19-year-old man. (24525934)
2014
34
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. (25174816)
2014
35
Management of anesthesia in biotinidase deficiency. (24574621)
2014
36
Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene. (24797656)
2014
37
Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years. (25144890)
2014
38
Biotinidase deficiency: Novel mutations in Algerian patients. (23481307)
2014
39
Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India. (25228601)
2014
40
Abnormal cerebrospinal fluid biochemistry in biotinidase deficiency causing diagnostic conundrum. (23220796)
2014
41
Biotinidase deficiency: an atypical presentation. (24066991)
2013
42
Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns. (24036022)
2013
43
High incidence of partial biotinidase deficiency cases in newborns of Greek origin. (23644139)
2013
44
Hair-shaft abnormality in a 7-year-old girl. Trichorrhexis nodosa dueto biotinidase deficiency. (23552716)
2013
45
Biotinidase deficiency in childhood. (24005734)
2013
46
Biotinidase deficiency: a reversible neurometabolic disorder (an Iranian pediatric case series). (24665318)
2013
47
Diagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan. (24169397)
2013
48
Optic neuritis in a child with biotinidase deficiency: case report and literature review. (22457589)
2012
49
Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have". (22241090)
2012
50
VACTERL association: a new case with biotinidase deficiency and annular pancreas. (22010814)
2012

Variations for Biotinidase Deficiency

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

70
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 159)
id Gene Variation Type Significance SNP ID Assembly Location
1BTDNM_ 000060.4(BTD): c.257T> G (p.Met86Arg)SNVPathogenicrs587783002GRCh37Chr 3, 15677143: 15677143
2BTDNM_ 000060.4(BTD): c.455C> G (p.Thr152Arg)SNVPathogenicrs587783003GRCh37Chr 3, 15683560: 15683560
3BTDNM_ 000060.4(BTD): c.683A> G (p.Asp228Gly)SNVPathogenicrs587783004GRCh37Chr 3, 15686046: 15686046
4BTDNM_ 000060.4(BTD): c.701C> T (p.Thr234Ile)SNVPathogenicrs587783005GRCh37Chr 3, 15686064: 15686064
5BTDNM_ 000060.4(BTD): c.898A> C (p.Asn300His)SNVPathogenicrs587783006GRCh37Chr 3, 15686261: 15686261
6BTDNM_ 000060.4(BTD): c.1372dupT (p.Cys458Leufs)duplicationPathogenicrs587783007GRCh37Chr 3, 15686735: 15686735
7BTDNM_ 000060.4(BTD): c.310-15delTdeletionPathogenicrs587783008GRCh37Chr 3, 15683400: 15683400
8BTDNM_ 000060.4(BTD): c.1227_ 1241delGGGAAAGGAAGGCTAinsTTCCAATGGCC (p.Trp409Cysfs)indelLikely pathogenicrs672601248GRCh37Chr 3, 15686590: 15686604
9BTDNM_ 000060.4(BTD): c.202_ 205dupATCC (p.Leu69Hisfs)duplicationLikely pathogenicrs786204672GRCh37Chr 3, 15677088: 15677091
10BTDBTD, 15-BP DEL/11-BP INSindelPathogenic
11BTDNM_ 000060.4(BTD): c.1595C> T (p.Thr532Met)SNVPathogenicrs104893688GRCh37Chr 3, 15686958: 15686958
12BTDNM_ 000060.4(BTD): c.1612C> T (p.Arg538Cys)SNVPathogenicrs80338686GRCh37Chr 3, 15686975: 15686975
13BTDNM_ 000060.4(BTD): c.100G> A (p.Gly34Ser)SNVPathogenicrs119103232GRCh37Chr 3, 15676986: 15676986
14BTDNM_ 000060.4(BTD): c.755A> G (p.Asp252Gly)SNVPathogenicrs28934601GRCh37Chr 3, 15686118: 15686118
15BTDNM_ 000060.4(BTD): c.1368A> C (p.Gln456His)SNVPathogenicrs80338685GRCh37Chr 3, 15686731: 15686731
16BTDNM_ 000060.4(BTD): c.1612C> A (p.Arg538Ser)SNVLikely pathogenicrs80338686GRCh38Chr 3, 15645468: 15645468
17BTDNM_ 000060.4(BTD): c.1157G> A (p.Trp386Ter)SNVPathogenicrs397514401GRCh37Chr 3, 15686520: 15686520
18BTDNM_ 000060.4(BTD): c.136G> T (p.Glu46Ter)SNVPathogenicrs397514336GRCh37Chr 3, 15677022: 15677022
19BTDNM_ 000060.4(BTD): c.171T> G (p.Tyr57Ter)SNVPathogenicrs397514339GRCh37Chr 3, 15677057: 15677057
20BTDNM_ 000060.4(BTD): c.184G> T (p.Val62Leu)SNVPathogenicrs397507170GRCh37Chr 3, 15677070: 15677070
21BTDNM_ 000060.4(BTD): c.190G> A (p.Glu64Lys)SNVPathogenicrs397514340GRCh38Chr 3, 15635569: 15635569
22BTDH65fsinsertionPathogenic
23BTDNM_ 000060.4(BTD): c.194A> G (p.His65Arg)SNVPathogenicrs397514341GRCh37Chr 3, 15677080: 15677080
24BTDNM_ 000060.4(BTD): c.245C> T (p.Ala82Val)SNVPathogenicrs397507171GRCh37Chr 3, 15677131: 15677131
25BTDNM_ 000060.4(BTD): c.246_ 254delCTTGGAGCT (p.Leu83_ Leu85del)deletionPathogenicrs397514346GRCh37Chr 3, 15677132: 15677140
26BTDNM_ 000060.4(BTD): c.248T> C (p.Leu83Ser)SNVPathogenicrs397514347GRCh37Chr 3, 15677134: 15677134
27BTDNM_ 000060.4(BTD): c.262C> T (p.Gln88Ter)SNVPathogenicrs151071780GRCh37Chr 3, 15677148: 15677148
28BTDNM_ 000060.4(BTD): c.278A> G (p.Tyr93Cys)SNVPathogenicrs397514348GRCh37Chr 3, 15677164: 15677164
29BTDNM_ 000060.4(BTD): c.298G> A (p.Ala100Thr)SNVPathogenicrs397514350GRCh37Chr 3, 15677184: 15677184
30BTDNM_ 000060.4(BTD): c.310G> T (p.Asp104Tyr)SNVPathogenicrs397514351GRCh37Chr 3, 15683415: 15683415
31BTDNM_ 000060.4(BTD): c.334G> C (p.Glu112Gln)SNVPathogenicrs397514352GRCh37Chr 3, 15683439: 15683439
32BTDNM_ 000060.4(BTD): c.334G> A (p.Glu112Lys)SNVPathogenicrs397514352GRCh37Chr 3, 15683439: 15683439
33BTDNM_ 000060.4(BTD): c.341G> T (p.Gly114Val)SNVPathogenicrs375712490GRCh37Chr 3, 15683446: 15683446
34BTDNM_ 000060.4(BTD): c.356A> G (p.Asn119Ser)SNVPathogenicrs397514353GRCh37Chr 3, 15683461: 15683461
35BTDNM_ 000060.4(BTD): c.364A> G (p.Arg122Gly)SNVPathogenicrs397514354GRCh37Chr 3, 15683469: 15683469
36BTDNM_ 000060.4(BTD): c.382T> G (p.Phe128Val)SNVPathogenicrs397514355GRCh37Chr 3, 15683487: 15683487
37BTDNM_ 000060.4(BTD): c.393delC (p.Phe131Leufs)deletionPathogenicrs397514356GRCh37Chr 3, 15683498: 15683498
38BTDNM_ 000060.4(BTD): c.424C> A (p.Pro142Thr)SNVPathogenic/ Likely pathogenicrs397514357GRCh37Chr 3, 15683529: 15683529
39BTDNM_ 000060.4(BTD): c.443G> A (p.Arg148His)SNVPathogenicrs367902696GRCh37Chr 3, 15683548: 15683548
40BTDNM_ 000060.4(BTD): c.445T> C (p.Phe149Leu)SNVPathogenicrs397514359GRCh37Chr 3, 15683550: 15683550
41BTDNM_ 000060.4(BTD): c.454A> C (p.Thr152Pro)SNVPathogenicrs374681173GRCh37Chr 3, 15683559: 15683559
42BTDNM_ 000060.4(BTD): c.459G> A (p.Glu153Glu=)SNVPathogenic/ Likely pathogenicrs397514360GRCh37Chr 3, 15683564: 15683564
43BTDNM_ 000060.4(BTD): c.466C> T (p.Gln156Ter)SNVPathogenicrs397514362GRCh37Chr 3, 15685829: 15685829
44BTDNM_ 000060.4(BTD): c.469C> T (p.Arg157Cys)SNVPathogenic/ Likely pathogenicrs397514363GRCh37Chr 3, 15685832: 15685832
45BTDNM_ 000060.4(BTD): c.485C> T (p.Ala162Val)SNVPathogenicrs397514364GRCh37Chr 3, 15685848: 15685848
46BTDNM_ 000060.4(BTD): c.490_ 491delAG (p.Arg164Glyfs)deletionPathogenicrs397514365GRCh37Chr 3, 15685853: 15685854
47BTDNM_ 000060.4(BTD): c.515A> G (p.Asn172Ser)SNVPathogenicrs397514366GRCh37Chr 3, 15685878: 15685878
48BTDNM_ 000060.4(BTD): c.528G> T (p.Lys176Asn)SNVPathogenic/ Likely pathogenicrs397514367GRCh37Chr 3, 15685891: 15685891
49BTDNM_ 000060.4(BTD): c.544delA (p.Ser182Valfs)deletionPathogenicrs397514368GRCh37Chr 3, 15685907: 15685907
50BTDNM_ 000060.4(BTD): c.557G> A (p.Cys186Tyr)SNVPathogenic/ Likely pathogenicrs397514369GRCh37Chr 3, 15685920: 15685920
51BTDNM_ 000060.4(BTD): c.583A> G (p.Asn195Asp)SNVPathogenicrs397514370GRCh37Chr 3, 15685946: 15685946
52BTDNM_ 000060.4(BTD): c.584A> G (p.Asn195Ser)SNVPathogenicrs397514371GRCh37Chr 3, 15685947: 15685947
53BTDNM_ 000060.4(BTD): c.587C> G (p.Thr196Arg)SNVPathogenicrs397514372GRCh37Chr 3, 15685950: 15685950
54BTDNM_ 000060.4(BTD): c.594_ 596delCGT (p.Val199del)deletionPathogenicrs397514373GRCh37Chr 3, 15685957: 15685959
55BTDNM_ 000060.4(BTD): c.594delC (p.Val199Cysfs)deletionPathogenicrs397514374GRCh37Chr 3, 15685957: 15685957
56BTDNM_ 000060.4(BTD): c.595G> A (p.Val199Met)SNVPathogenic/ Likely pathogenicrs397514375GRCh37Chr 3, 15685958: 15685958
57BTDNM_ 000060.4(BTD): c.605A> T (p.Asn202Ile)SNVPathogenicrs397514376GRCh37Chr 3, 15685968: 15685968
58BTDNM_ 000060.4(BTD): c.631C> T (p.Arg211Cys)SNVPathogenicrs372844636GRCh37Chr 3, 15685994: 15685994
59BTDNM_ 000060.4(BTD): c.643C> T (p.Leu215Phe)SNVPathogenicrs190386869GRCh37Chr 3, 15686006: 15686006
60BTDNM_ 000060.4(BTD): c.652G> C (p.Glu218Gln)SNVPathogenicrs397514378GRCh37Chr 3, 15686015: 15686015
61BTDNM_ 000060.4(BTD): c.654G> C (p.Glu218Asp)SNVPathogenicrs397514379GRCh37Chr 3, 15686017: 15686017
62BTDNM_ 000060.4(BTD): c.682G> T (p.Asp228Tyr)SNVPathogenicrs397514380GRCh37Chr 3, 15686045: 15686045
63BTDNM_ 000060.4(BTD): c.709G> A (p.Ala237Thr)SNVPathogenicrs397514381GRCh37Chr 3, 15686072: 15686072
64BTDNM_ 000060.4(BTD): c.743T> C (p.Ile248Thr)SNVPathogenicrs397514382GRCh37Chr 3, 15686106: 15686106
65BTDNM_ 000060.4(BTD): c.757C> T (p.Pro253Ser)SNVPathogenicrs397514383GRCh37Chr 3, 15686120: 15686120
66BTDNM_ 000060.4(BTD): c.764T> C (p.Ile255Thr)SNVPathogenicrs397514384GRCh37Chr 3, 15686127: 15686127
67BTDNM_ 000060.4(BTD): c.794A> T (p.His265Leu)SNV, HaplotypePathogenicrs397514385GRCh37Chr 3, 15686157: 15686157
68BTDNM_ 000060.4(BTD): c.814T> G (p.Trp272Gly)SNVPathogenicrs397514387GRCh37Chr 3, 15686177: 15686177
69BTDNM_ 000060.4(BTD): c.832C> G (p.Leu278Val)SNVPathogenicrs397514388GRCh37Chr 3, 15686195: 15686195
70BTDNM_ 000060.4(BTD): c.833T> C (p.Leu278Pro)SNVPathogenicrs397514389GRCh37Chr 3, 15686196: 15686196
71BTDNM_ 000060.4(BTD): c.836T> G (p.Leu279Trp)SNVPathogenicrs397514390GRCh37Chr 3, 15686199: 15686199
72BTDNM_ 000060.4(BTD): c.887T> G (p.Val296Gly)SNVPathogenicrs397514391GRCh37Chr 3, 15686250: 15686250
73BTDNM_ 000060.4(BTD): c.896C> T (p.Ala299Val)SNVPathogenicrs397514392GRCh37Chr 3, 15686259: 15686259
74BTDNM_ 000060.4(BTD): c.929G> A (p.Gly310Glu)SNVPathogenicrs397514393GRCh37Chr 3, 15686292: 15686292
75BTDNM_ 000060.4(BTD): c.932G> A (p.Ser311Asn)SNVPathogenicrs397514394GRCh37Chr 3, 15686295: 15686295
76BTDNM_ 000060.4(BTD): c.933delT (p.Ser311Argfs)deletionPathogenic/ Likely pathogenicrs397514395GRCh37Chr 3, 15686296: 15686296
77BTDNM_ 000060.4(BTD): c.933T> G (p.Ser311Arg)SNVPathogenicrs397514386GRCh37Chr 3, 15686296: 15686296
78BTDNM_ 000060.4(BTD): c.934G> A (p.Gly312Ser)SNVPathogenicrs397514396GRCh37Chr 3, 15686297: 15686297
79BTDNM_ 000060.4(BTD): c.935G> A (p.Gly312Asp)SNVPathogenicrs377651057GRCh37Chr 3, 15686298: 15686298
80BTDNM_ 000060.4(BTD): c.1049delC (p.Ala350Glufs)deletionPathogenicrs397514397GRCh37Chr 3, 15686412: 15686412
81BTDNM_ 000060.4(BTD): c.1052delC (p.Thr351Lysfs)deletionPathogenicrs397514398GRCh37Chr 3, 15686415: 15686415
82BTDNM_ 000060.4(BTD): c.1096T> C (p.Ser366Pro)SNVPathogenicrs397514399GRCh37Chr 3, 15686459: 15686459
83BTDNM_ 000060.4(BTD): c.1106C> T (p.Pro369Leu)SNVPathogenicrs397514400GRCh37Chr 3, 15686469: 15686469
84BTDNM_ 000060.4(BTD): c.1191_ 1192delGA (p.Glu397Aspfs)deletionPathogenicrs397514403GRCh37Chr 3, 15686554: 15686555
85BTDNM_ 000060.4(BTD): c.1211C> T (p.Thr404Ile)SNVPathogenicrs397514405GRCh37Chr 3, 15686574: 15686574
86BTDNM_ 000060.4(BTD): c.1214T> C (p.Leu405Pro)SNVPathogenicrs397514406GRCh37Chr 3, 15686577: 15686577
87BTDNM_ 000060.4(BTD): c.1227_ 1241delGGGAAAGGAAGGCTAins11indelPathogenicrs672601248GRCh37Chr 3, 15686590: 15686604
88BTDNM_ 000060.4(BTD): c.1239delC (p.Tyr414Ilefs)deletionPathogenicrs397514407GRCh37Chr 3, 15686602: 15686602
89BTDNM_ 000060.4(BTD): c.1252T> C (p.Cys418Arg)SNVPathogenicrs397514408GRCh37Chr 3, 15686615: 15686615
90BTDNM_ 000060.4(BTD): c.1249G> T (p.Val417Phe)SNVPathogenicrs397514409GRCh37Chr 3, 15686612: 15686612
91BTDNM_ 000060.4(BTD): c.1253G> C (p.Cys418Ser)SNVPathogenicrs397514410GRCh37Chr 3, 15686616: 15686616
92BTDNM_ 000060.4(BTD): c.1264dupC (p.Leu422Profs)duplicationPathogenicrs397514411GRCh37Chr 3, 15686627: 15686627
93BTDNM_ 000060.4(BTD): c.1267T> C (p.Cys423Arg)SNVPathogenicrs397514412GRCh37Chr 3, 15686630: 15686630
94BTDNM_ 000060.4(BTD): c.1268G> C (p.Cys423Ser)SNVPathogenicrs397514413GRCh37Chr 3, 15686631: 15686631
95BTDNM_ 000060.4(BTD): c.1271G> A (p.Cys424Tyr)SNVPathogenicrs397514335GRCh37Chr 3, 15686634: 15686634
96BTDNM_ 000060.4(BTD): c.1271G> C (p.Cys424Ser)SNVPathogenicrs397514335GRCh37Chr 3, 15686634: 15686634
97BTDNM_ 000060.4(BTD): c.1275T> G (p.Tyr425Ter)SNVPathogenicrs397514414GRCh37Chr 3, 15686638: 15686638
98BTDNM_ 000060.4(BTD): c.1284C> A (p.Tyr428Ter)SNVPathogenicrs35145938GRCh37Chr 3, 15686647: 15686647
99BTDNM_ 000060.4(BTD): c.1313A> G (p.Tyr438Cys)SNVPathogenicrs397514415GRCh37Chr 3, 15686676: 15686676
100BTDNM_ 000060.4(BTD): c.1314T> A (p.Tyr438Ter)SNVPathogenic/ Likely pathogenicrs397514416GRCh37Chr 3, 15686677: 15686677
101BTDNM_ 000060.4(BTD): c.1333G> A (p.Gly445Arg)SNVPathogenicrs397514417GRCh37Chr 3, 15686696: 15686696
102BTDNM_ 000060.4(BTD): c.1339C> T (p.His447Tyr)SNVPathogenicrs397514418GRCh37Chr 3, 15686702: 15686702
103BTDNM_ 000060.4(BTD): c.1352G> A (p.Gly451Asp)SNVPathogenicrs397514419GRCh37Chr 3, 15686715: 15686715
104BTDNM_ 000060.4(BTD): c.1369G> A (p.Val457Met)SNVPathogenicrs146600671GRCh37Chr 3, 15686732: 15686732
105BTDNM_ 000060.4(BTD): c.1384delA (p.Arg462Glyfs)deletionPathogenicrs397514420GRCh37Chr 3, 15686747: 15686747
106BTDNM_ 000060.4(BTD): c.1388G> A (p.Cys463Tyr)SNVPathogenicrs397514421GRCh37Chr 3, 15686751: 15686751
107BTDNM_ 000060.4(BTD): c.1432G> C (p.Ala478Pro)SNVPathogenicrs181396238GRCh37Chr 3, 15686795: 15686795
108BTDNM_ 000060.4(BTD): c.1455C> G (p.His485Gln)SNVPathogenicrs201604102GRCh37Chr 3, 15686818: 15686818
109BTDNM_ 000060.4(BTD): c.1459T> C (p.Trp487Arg)SNVPathogenicrs397514422GRCh37Chr 3, 15686822: 15686822
110BTDNM_ 000060.4(BTD): c.1459delT (p.Trp487Glyfs)deletionPathogenic/ Likely pathogenicrs397514423GRCh37Chr 3, 15686822: 15686822
111BTDNM_ 000060.4(BTD): c.1463G> A (p.Gly488Asp)SNVPathogenicrs397514424GRCh37Chr 3, 15686826: 15686826
112BTDNM_ 000060.4(BTD): c.1489C> T (p.Pro497Ser)SNVPathogenicrs138818907GRCh37Chr 3, 15686852: 15686852
113BTDNM_ 000060.4(BTD): c.1493dupT (p.Leu498Phefs)duplicationPathogenicrs397514425GRCh37Chr 3, 15686856: 15686856
114BTDNM_ 000060.4(BTD): c.1511T> A (p.Met504Lys)SNVPathogenicrs397514426GRCh37Chr 3, 15686874: 15686874
115BTDNM_ 000060.4(BTD): c.1531C> G (p.Gln511Glu)SNVPathogenicrs397514427GRCh37Chr 3, 15686894: 15686894
116BTDNM_ 000060.4(BTD): c.1610G> A (p.Gly537Glu)SNVPathogenicrs397514428GRCh37Chr 3, 15686973: 15686973
117BTDNM_ 000060.4(BTD): c.1613G> A (p.Arg538His)SNVPathogenicrs397514429GRCh37Chr 3, 15686976: 15686976
118BTDNM_ 000060.4(BTD): c.1616dupT (p.Leu539Phefs)duplicationPathogenicrs397514430GRCh37Chr 3, 15686979: 15686979
119BTDNM_ 000060.4(BTD): c.1619A> G (p.Tyr540Cys)SNVPathogenicrs397514431GRCh37Chr 3, 15686982: 15686982
120BTDNM_ 000060.4(BTD): c.1627G> C (p.Asp543His)SNVPathogenicrs397514432GRCh37Chr 3, 15686990: 15686990
121BTDNM_ 000060.4(BTD): c.664G> C (p.Asp222His)SNVPathogenicrs200337373GRCh37Chr 3, 15686027: 15686027
122BTDNM_ 000060.4(BTD): c.1001T> A (p.Ile334Asn)SNVPathogenicrs397514433GRCh37Chr 3, 15686364: 15686364
123BTDNM_ 000060.4(BTD): c.1432G> A (p.Ala478Thr)SNVPathogenicrs181396238GRCh37Chr 3, 15686795: 15686795
124BTDNM_ 000060.4(BTD): c.1410dupC (p.Cys471Leufs)duplicationPathogenic/ Likely pathogenicrs886041559GRCh37Chr 3, 15686773: 15686773
125BTDNM_ 000060.4(BTD): c.372_ 375dupCATT (p.Tyr126Hisfs)duplicationLikely pathogenicrs1057516223GRCh38Chr 3, 15641970: 15641973
126BTDNM_ 000060.4(BTD): c.1129G> T (p.Glu377Ter)SNVLikely pathogenicrs1057516252GRCh38Chr 3, 15644985: 15644985
127BTDNM_ 000060.4(BTD): c.44+1G> ASNVLikely pathogenicrs1057516440GRCh38Chr 3, 15601895: 15601895
128BTDNM_ 000060.4(BTD): c.44+1G> CSNVLikely pathogenicrs1057516440GRCh38Chr 3, 15601895: 15601895
129BTDNM_ 000060.4(BTD): c.44+1G> TSNVLikely pathogenicrs1057516440GRCh37Chr 3, 15643402: 15643402
130BTDNM_ 000060.4(BTD): c.107dupA (p.Tyr36Terfs)duplicationLikely pathogenicrs1057516812GRCh37Chr 3, 15676993: 15676993
131BTDNM_ 000060.4(BTD): c.309+1G> TSNVLikely pathogenicrs373249212GRCh38Chr 3, 15635689: 15635689
132BTDNM_ 000060.4(BTD): c.44+1delGdeletionLikely pathogenicrs1057517114GRCh37Chr 3, 15643402: 15643402
133BTDNM_ 000060.4(BTD): c.43A> T (p.Arg15Ter)SNVLikely pathogenicrs143058480GRCh38Chr 3, 15601893: 15601893
134BTDNM_ 000060.4(BTD): c.1307_ 1308delAG (p.Glu436Alafs)deletionLikely pathogenicrs1057517225GRCh37Chr 3, 15686670: 15686671
135BTDNM_ 000060.4(BTD): c.1170_ 1171dupTC (p.Pro391Leufs)duplicationLikely pathogenicrs1057517256GRCh38Chr 3, 15645026: 15645027
136BTDNM_ 000060.4(BTD): c.1324delG (p.Val442Serfs)deletionLikely pathogenicrs1057517362GRCh37Chr 3, 15686687: 15686687
137BTDNM_ 000060.4(BTD): c.559C> T (p.Pro187Ser)SNVPathogenicrs397507173GRCh37Chr 3, 15685922: 15685922
138BTDNM_ 000060.4(BTD): c.629A> G (p.Tyr210Cys)SNVPathogenic/ Likely pathogenicrs397507174GRCh37Chr 3, 15685992: 15685992
139BTDNM_ 000060.4(BTD): c.734G> A (p.Cys245Tyr)SNVPathogenic/ Likely pathogenicrs397507175GRCh37Chr 3, 15686097: 15686097
140BTDNM_ 000060.4(BTD): c.326T> G (p.Val109Gly)SNVPathogenicrs397507172GRCh37Chr 3, 15683431: 15683431
141BTDNM_ 000060.4(BTD): c.511G> A (p.Ala171Thr)SNVPathogenicrs13073139GRCh37Chr 3, 15685874: 15685874
142BTDNM_ 000060.4(BTD): c.128A> G (p.His43Arg)SNVPathogenicrs146011150GRCh37Chr 3, 15677014: 15677014
143BTDNM_ 000060.4(BTD): c.245C> A (p.Ala82Asp)SNVPathogenicrs397507171GRCh37Chr 3, 15677131: 15677131
144BTDNM_ 000060.4(BTD): c.184G> A (p.Val62Met)SNVPathogenicrs397507170GRCh37Chr 3, 15677070: 15677070
145BTDNM_ 000060.4(BTD): c.98_ 104delGCGGCTGinsTCC (p.Cys33Phefs)indel, HaplotypePathogenicrs80338684GRCh37Chr 3, 15676984: 15676990
146BTDNM_ 000060.4(BTD): c.235C> T (p.Arg79Cys)SNV, HaplotypePathogenicrs104893687GRCh37Chr 3, 15677121: 15677121
147BTDNM_ 000060.4(BTD): c.236G> A (p.Arg79His)SNVPathogenicrs397514343GRCh37Chr 3, 15677122: 15677122
148BTDNM_ 000060.4(BTD): c.1330G> C (p.Asp444His)SNV, HaplotypePathogenicrs13078881GRCh37Chr 3, 15686693: 15686693
149BTDNM_ 000060.4(BTD): c.1158G> A (p.Trp386Ter)SNVPathogenic/ Likely pathogenicrs397514434GRCh37Chr 3, 15686521: 15686521
150BTDNM_ 000060.4(BTD): c.1334G> T (p.Gly445Val)SNV, HaplotypePathogenicrs397514402GRCh37Chr 3, 15686697: 15686697
151BTDNM_ 000060.4(BTD): c.1241_ 1252delATCTCCACGTCT (p.Tyr414_ Val417del)deletionPathogenicrs397514404GRCh37Chr 3, 15686604: 15686615
152BTDNM_ 000060.4(BTD): c.192G> C (p.Glu64Asp)SNVPathogenicrs397514436GRCh37Chr 3, 15677078: 15677078
153BTDNM_ 000060.4(BTD): c.518T> G (p.Leu173Arg)SNVPathogenicrs397514437GRCh37Chr 3, 15685881: 15685881
154BTDNM_ 000060.4(BTD): c.758C> T (p.Pro253Leu)SNVPathogenicrs397514438GRCh37Chr 3, 15686121: 15686121
155BTDNM_ 000060.4(BTD): c.1237G> A (p.Gly413Ser)SNVPathogenicrs374141881GRCh37Chr 3, 15686600: 15686600
156BTDNM_ 000060.4(BTD): c.407dupA (p.Val137Glyfs)duplicationPathogenicrs397514439GRCh37Chr 3, 15683512: 15683512
157BTDNM_ 000060.4(BTD): c.641A> G (p.Asn214Ser)SNVPathogenicrs397514377GRCh37Chr 3, 15686004: 15686004
158BTDNM_ 000060.4(BTD): c.1394dupG (p.Leu466Serfs)duplicationPathogenic/ Likely pathogenicrs397514440GRCh37Chr 3, 15686757: 15686757
159BTDNM_ 000060.4(BTD): c.1508_ 1512delGGATG (p.Gly503Aspfs)deletionPathogenicrs398123138GRCh37Chr 3, 15686871: 15686875

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
9.4ACADM, PCCB
39.4ACADM, PCCB
4
Show member pathways
9.4ACADM, PCCB
59.3ACADM, LPL
6
Show member pathways
9.3ACADM, LPL
7
Show member pathways
8.8ACADM, LPL, PCCB
8
Show member pathways
8.5BTD, 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:00057599.0ACADM, BTD, PCCB

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

idNameGO IDScoreTop Affiliating Genes
1fatty acid biosynthetic processGO:00066339.9LPL, PCCB
2response to coldGO:00094099.8ACADM, LPL
3biotin metabolic processGO:00067689.7BTD, HLCS, PCCB
4response to glucoseGO:00097499.0EIF2B4, LPL

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

idNameGO IDScoreTop Affiliating Genes
1ligase activityGO:00168749.5HLCS, PCCB

Sources for Biotinidase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet