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:
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
Juvenile-Onset Multiple Carboxylase Deficiency 11 54
Deficiency of Biotinidase 11 27
Biotin Deficiency 48 68
Biotinidase Deficiency Multiple Carboxylase Deficiency, Late-Onset 52
 
Multiple Carboxylase Deficiency, Juvenile-Onset 68
Carboxylase Deficiency, Multiple, Late-Onset 25
Multiple Carboxylase Deficiency, 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 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.

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.

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...

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

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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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:

 64 54 (show all 48)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures64 hallmark (90%) HP:0001250
2 muscular hypotonia64 54 hallmark (90%) Very frequent (99-80%) HP:0001252
3 hearing impairment64 54 typical (50%) Frequent (79-30%) HP:0000365
4 optic atrophy64 54 typical (50%) Frequent (79-30%) HP:0000648
5 dry skin64 typical (50%) HP:0000958
6 skin rash64 typical (50%) HP:0000988
7 alopecia64 54 typical (50%) Frequent (79-30%) HP:0001596
8 incoordination64 typical (50%) HP:0002311
9 inflammatory abnormality of the eye64 typical (50%) HP:0100533
10 myopia64 54 occasional (7.5%) Occasional (29-5%) HP:0000545
11 visual field defect64 54 occasional (7.5%) Occasional (29-5%) HP:0001123
12 hypertonia64 54 occasional (7.5%) Occasional (29-5%) HP:0001276
13 muscle weakness64 54 occasional (7.5%) Occasional (29-5%) HP:0001324
14 respiratory insufficiency64 occasional (7.5%) HP:0002093
15 reduced consciousness/confusion64 occasional (7.5%) HP:0004372
16 aplasia/hypoplasia of the cerebellum64 occasional (7.5%) HP:0007360
17 abnormality of retinal pigmentation64 occasional (7.5%) HP:0007703
18 skin ulcer64 occasional (7.5%) HP:0200042
19 sensorineural hearing impairment64 HP:0000407
20 conjunctivitis64 HP:0000509
21 visual loss64 HP:0000572
22 seborrheic dermatitis64 HP:0001051
23 ataxia64 54 Frequent (79-30%) HP:0001251
24 lethargy64 54 Occasional (29-5%) HP:0001254
25 global developmental delay64 54 Frequent (79-30%) HP:0001263
26 recurrent skin infections64 HP:0001581
27 splenomegaly64 HP:0001744
28 hyperammonemia64 HP:0001987
29 organic aciduria64 HP:0001992
30 vomiting64 HP:0002013
31 diarrhea64 HP:0002014
32 apnea64 54 Occasional (29-5%) HP:0002104
33 hepatomegaly64 HP:0002240
34 diffuse cerebral atrophy64 HP:0002506
35 tachypnea64 HP:0002789
36 metabolic ketoacidosis64 54 Very frequent (99-80%) HP:0005979
37 feeding difficulties in infancy64 HP:0008872
38 diffuse cerebellar atrophy64 HP:0100275
39 keratoconjunctivitis54 Frequent (79-30%)
40 coma54 Occasional (29-5%)
41 abnormality of the cerebellum54 Occasional (29-5%)
42 growth delay54 Occasional (29-5%)
43 generalized myoclonic seizures54 Very frequent (99-80%)
44 recurrent fungal infections54 Occasional (29-5%)
45 hyperventilation54 Occasional (29-5%)
46 laryngeal stridor54 Occasional (29-5%)
47 iris hypopigmentation54 Occasional (29-5%)
48 perioral eczema54 Frequent (79-30%)

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):

(show all 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Miconazoleapproved, investigational, vet_approvedPhase 2362422916-47-84189
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 291579217-60-0, 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 221402
4Antifungal AgentsPhase 23615
5Immunosuppressive AgentsPhase 212770
6Dermatologic AgentsPhase 25674
7Antirheumatic AgentsPhase 210627
8Calcineurin InhibitorsPhase 21597
9
Folic Acidapproved, nutraceutical, vet_approved427959-30-36037
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, nutraceutical4358-85-5171548
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
11Vitamins5095
12Trace Elements5802
13Vitamin B Complex4229
14Micronutrients5802
15Vitamin B9Nutraceutical4279
16Vitamin B7Nutraceutical43
17FolateNutraceutical4279

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

About this section

MalaCards organs/tissues related to Biotinidase Deficiency:

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

Publications for Biotinidase Deficiency

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Articles related to Biotinidase Deficiency:

(show top 50)    (show all 219)
idTitleAuthorsYear
1
Comment on: Childhood optic atrophy in biotinidase deficiency. (27688290)
2016
2
Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn. (26656798)
2016
3
Forty-eight novel mutations causing biotinidase deficiency. (26810761)
2016
4
Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency. (27144235)
2016
5
Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population. (27845546)
2016
6
First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice. (27014582)
2016
7
A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit. (27761288)
2016
8
Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease. (27207447)
2016
9
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations. (27329734)
2016
10
Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. (27657684)
2016
11
Celiac Disease Presenting with Biotinidase Deficiency and Paraplegia. (26830281)
2016
12
Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency. (26169436)
2015
13
Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder. (26037171)
2015
14
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. (25795614)
2015
15
Biotinidase deficiency and our champagne legacy. (26456103)
2015
16
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss. (26358973)
2015
17
Why screen newborns for profound and partial biotinidase deficiency? (25638506)
2015
18
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014). (26361991)
2015
19
Mutations in BTD gene causing biotinidase deficiency: a regional report. (25423671)
2015
20
Biotinidase deficiency mimicking primary immune deficiencies. (25956498)
2015
21
Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report. (26221165)
2015
22
Brainstem and spinal cord lesions associated with skin changes and hearing loss: think of biotinidase deficiency. (25556014)
2015
23
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood. (26203071)
2015
24
High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil. (25967232)
2015
25
Clinical utility gene card for: Biotinidase deficiency-update 2015. (26577040)
2015
26
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. (25174816)
2014
27
Biotinidase deficiency: Novel mutations in Algerian patients. (23481307)
2014
28
Management of anesthesia in biotinidase deficiency. (24574621)
2014
29
Optic neuropathy due to biotinidase deficiency in a 19-year-old man. (24525934)
2014
30
Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency. (24630269)
2014
31
Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India. (25228601)
2014
32
Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years. (25144890)
2014
33
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
34
Abnormal cerebrospinal fluid biochemistry in biotinidase deficiency causing diagnostic conundrum. (23220796)
2014
35
Biotinidase deficiency in childhood. (24005734)
2013
36
High incidence of partial biotinidase deficiency cases in newborns of Greek origin. (23644139)
2013
37
Hair-shaft abnormality in a 7-year-old girl. Trichorrhexis nodosa dueto biotinidase deficiency. (23552716)
2013
38
Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns. (24036022)
2013
39
Biotinidase deficiency: an atypical presentation. (24066991)
2013
40
Diagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan. (24169397)
2013
41
Biotinidase deficiency: a reversible neurometabolic disorder (an Iranian pediatric case series). (24665318)
2013
42
Biotinidase deficiency in Pakistani children; what needs to be known and done. (22755269)
2012
43
Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. (22698809)
2012
44
Hemophagocytic syndrome in a 4-month-old infant with biotinidase deficiency. (22605457)
2012
45
Clinical utility gene card for: biotinidase deficiency. (22378278)
2012
46
Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration. (22579707)
2012
47
Epilepsy in biotinidase deficiency after biotin treatment. (23430899)
2012
48
VACTERL association: a new case with biotinidase deficiency and annular pancreas. (22010814)
2012
49
Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have". (22241090)
2012
50
Optic neuritis in a child with biotinidase deficiency: case report and literature review. (22457589)
2012

Variations for Biotinidase Deficiency

About this section

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 169)
id Gene Variation Type Significance SNP ID Assembly Location
1BTDNM_000060.4(BTD): c.1207T> G (p.Phe403Val)SNVPathogenicrs104893686GRCh37Chr 3, 15686570: 15686570
2BTDNM_000060.4(BTD): c.257T> G (p.Met86Arg)SNVPathogenicrs587783002GRCh37Chr 3, 15677143: 15677143
3BTDNM_000060.4(BTD): c.455C> G (p.Thr152Arg)SNVPathogenicrs587783003GRCh37Chr 3, 15683560: 15683560
4BTDNM_000060.4(BTD): c.683A> G (p.Asp228Gly)SNVPathogenicrs587783004GRCh37Chr 3, 15686046: 15686046
5BTDNM_000060.4(BTD): c.701C> T (p.Thr234Ile)SNVLikely pathogenic, Pathogenicrs587783005GRCh37Chr 3, 15686064: 15686064
6BTDNM_000060.4(BTD): c.898A> C (p.Asn300His)SNVPathogenicrs587783006GRCh37Chr 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
11BTDBTD, 15-BP DEL/11-BP INSindelPathogenicChr na, -1: -1
12BTDNM_000060.4(BTD): c.1595C> T (p.Thr532Met)SNVPathogenicrs104893688GRCh37Chr 3, 15686958: 15686958
13BTDNM_000060.4(BTD): c.1612C> T (p.Arg538Cys)SNVPathogenicrs80338686GRCh37Chr 3, 15686975: 15686975
14BTDNM_000060.4(BTD): c.100G> A (p.Gly34Ser)SNVPathogenicrs119103232GRCh37Chr 3, 15676986: 15676986
15BTDNM_000060.4(BTD): c.755A> G (p.Asp252Gly)SNVPathogenicrs28934601GRCh37Chr 3, 15686118: 15686118
16BTDNM_000060.4(BTD): c.1368A> C (p.Gln456His)SNVPathogenicrs80338685GRCh37Chr 3, 15686731: 15686731
17BTDNM_000060.4(BTD): c.1466A> C (p.Asn489Thr)SNVPathogenicrs104893692GRCh37Chr 3, 15686829: 15686829
18BTDNM_000060.4(BTD): c.1612C> A (p.Arg538Ser)SNVLikely pathogenic, Pathogenicrs80338686GRCh37Chr 3, 15686975: 15686975
19BTDNM_000060.4(BTD): c.1157G> A (p.Trp386Ter)SNVPathogenicrs397514401GRCh37Chr 3, 15686520: 15686520
20BTDNM_000060.4(BTD): c.136G> T (p.Glu46Ter)SNVPathogenicrs397514336GRCh37Chr 3, 15677022: 15677022
21BTDNM_000060.4(BTD): c.171T> G (p.Tyr57Ter)SNVPathogenicrs397514339GRCh37Chr 3, 15677057: 15677057
22BTDNM_000060.4(BTD): c.184G> T (p.Val62Leu)SNVPathogenicrs397507170GRCh37Chr 3, 15677070: 15677070
23BTDNM_000060.4(BTD): c.190G> A (p.Glu64Lys)SNVPathogenicrs397514340GRCh37Chr 3, 15677076: 15677076
24BTDH65fsinsertionPathogenicChr na, -1: -1
25BTDNM_000060.4(BTD): c.194A> G (p.His65Arg)SNVPathogenicrs397514341GRCh37Chr 3, 15677080: 15677080
26BTDNM_000060.4(BTD): c.245C> T (p.Ala82Val)SNVPathogenicrs397507171GRCh37Chr 3, 15677131: 15677131
27BTDNM_000060.4(BTD): c.246_254delCTTGGAGCT (p.Leu83_Leu85del)deletionPathogenicrs397514346GRCh37Chr 3, 15677132: 15677140
28BTDNM_000060.4(BTD): c.248T> C (p.Leu83Ser)SNVPathogenicrs397514347GRCh37Chr 3, 15677134: 15677134
29BTDNM_000060.4(BTD): c.262C> T (p.Gln88Ter)SNVPathogenicrs151071780GRCh37Chr 3, 15677148: 15677148
30BTDNM_000060.4(BTD): c.278A> G (p.Tyr93Cys)SNVPathogenicrs397514348GRCh37Chr 3, 15677164: 15677164
31BTDNM_000060.4(BTD): c.298G> A (p.Ala100Thr)SNVPathogenicrs397514350GRCh37Chr 3, 15677184: 15677184
32BTDNM_000060.4(BTD): c.310G> T (p.Asp104Tyr)SNVPathogenicrs397514351GRCh37Chr 3, 15683415: 15683415
33BTDNM_000060.4(BTD): c.334G> C (p.Glu112Gln)SNVPathogenicrs397514352GRCh37Chr 3, 15683439: 15683439
34BTDNM_000060.4(BTD): c.334G> A (p.Glu112Lys)SNVPathogenicrs397514352GRCh37Chr 3, 15683439: 15683439
35BTDNM_000060.4(BTD): c.341G> T (p.Gly114Val)SNVPathogenicrs375712490GRCh37Chr 3, 15683446: 15683446
36BTDNM_000060.4(BTD): c.356A> G (p.Asn119Ser)SNVPathogenicrs397514353GRCh37Chr 3, 15683461: 15683461
37BTDNM_000060.4(BTD): c.364A> G (p.Arg122Gly)SNVPathogenicrs397514354GRCh37Chr 3, 15683469: 15683469
38BTDNM_000060.4(BTD): c.382T> G (p.Phe128Val)SNVPathogenicrs397514355GRCh37Chr 3, 15683487: 15683487
39BTDNM_000060.4(BTD): c.393delC (p.Phe131Leufs)deletionPathogenicrs397514356GRCh37Chr 3, 15683498: 15683498
40BTDNM_000060.4(BTD): c.424C> A (p.Pro142Thr)SNVPathogenicrs397514357GRCh37Chr 3, 15683529: 15683529
41BTDNM_000060.4(BTD): c.443G> A (p.Arg148His)SNVPathogenicrs367902696GRCh37Chr 3, 15683548: 15683548
42BTDNM_000060.4(BTD): c.445T> C (p.Phe149Leu)SNVPathogenicrs397514359GRCh37Chr 3, 15683550: 15683550
43BTDNM_000060.4(BTD): c.454A> C (p.Thr152Pro)SNVPathogenicrs374681173GRCh37Chr 3, 15683559: 15683559
44BTDNM_000060.4(BTD): c.459G> A (p.Glu153Glu=)SNVPathogenicrs397514360GRCh37Chr 3, 15683564: 15683564
45BTDNM_000060.4(BTD): c.466C> T (p.Gln156Ter)SNVPathogenicrs397514362GRCh37Chr 3, 15685829: 15685829
46BTDNM_000060.4(BTD): c.469C> T (p.Arg157Cys)SNVPathogenicrs397514363GRCh37Chr 3, 15685832: 15685832
47BTDNM_000060.4(BTD): c.485C> T (p.Ala162Val)SNVPathogenicrs397514364GRCh37Chr 3, 15685848: 15685848
48BTDNM_000060.4(BTD): c.490_491delAG (p.Arg164Glyfs)deletionPathogenicrs397514365GRCh38Chr 3, 15644346: 15644347
49BTDNM_000060.4(BTD): c.515A> G (p.Asn172Ser)SNVPathogenicrs397514366GRCh37Chr 3, 15685878: 15685878
50BTDNM_000060.4(BTD): c.528G> T (p.Lys176Asn)SNVLikely pathogenic, Pathogenicrs397514367GRCh37Chr 3, 15685891: 15685891
51BTDNM_000060.4(BTD): c.544delA (p.Ser182Valfs)deletionPathogenicrs397514368GRCh37Chr 3, 15685907: 15685907
52BTDNM_000060.4(BTD): c.557G> A (p.Cys186Tyr)SNVLikely pathogenic, Pathogenicrs397514369GRCh37Chr 3, 15685920: 15685920
53BTDNM_000060.4(BTD): c.583A> G (p.Asn195Asp)SNVPathogenicrs397514370GRCh37Chr 3, 15685946: 15685946
54BTDNM_000060.4(BTD): c.584A> G (p.Asn195Ser)SNVPathogenicrs397514371GRCh37Chr 3, 15685947: 15685947
55BTDNM_000060.4(BTD): c.587C> G (p.Thr196Arg)SNVPathogenicrs397514372GRCh37Chr 3, 15685950: 15685950
56BTDNM_000060.4(BTD): c.594_596delCGT (p.Val199del)deletionPathogenicrs397514373GRCh37Chr 3, 15685957: 15685959
57BTDNM_000060.4(BTD): c.594delC (p.Val199Cysfs)deletionPathogenicrs397514374GRCh37Chr 3, 15685957: 15685957
58BTDNM_000060.4(BTD): c.595G> A (p.Val199Met)SNVLikely pathogenic, Pathogenicrs397514375GRCh37Chr 3, 15685958: 15685958
59BTDNM_000060.4(BTD): c.605A> T (p.Asn202Ile)SNVPathogenicrs397514376GRCh37Chr 3, 15685968: 15685968
60BTDNM_000060.4(BTD): c.631C> T (p.Arg211Cys)SNVPathogenicrs372844636GRCh37Chr 3, 15685994: 15685994
61BTDNM_000060.4(BTD): c.632G> A (p.Arg211His)SNVPathogenicrs112195009GRCh37Chr 3, 15685995: 15685995
62BTDNM_000060.4(BTD): c.643C> T (p.Leu215Phe)SNVPathogenicrs190386869GRCh37Chr 3, 15686006: 15686006
63BTDNM_000060.4(BTD): c.652G> C (p.Glu218Gln)SNVPathogenicrs397514378GRCh37Chr 3, 15686015: 15686015
64BTDNM_000060.4(BTD): c.654G> C (p.Glu218Asp)SNVPathogenicrs397514379GRCh37Chr 3, 15686017: 15686017
65BTDNM_000060.4(BTD): c.682G> T (p.Asp228Tyr)SNVPathogenicrs397514380GRCh37Chr 3, 15686045: 15686045
66BTDNM_000060.4(BTD): c.709G> A (p.Ala237Thr)SNVPathogenicrs397514381GRCh37Chr 3, 15686072: 15686072
67BTDNM_000060.4(BTD): c.743T> C (p.Ile248Thr)SNVPathogenicrs397514382GRCh37Chr 3, 15686106: 15686106
68BTDNM_000060.4(BTD): c.757C> T (p.Pro253Ser)SNVPathogenicrs397514383GRCh37Chr 3, 15686120: 15686120
69BTDNM_000060.4(BTD): c.764T> C (p.Ile255Thr)SNVPathogenicrs397514384GRCh37Chr 3, 15686127: 15686127
70BTDNM_000060.4(BTD): c.794A> T (p.His265Leu)SNV, HaplotypePathogenicrs397514385GRCh37Chr 3, 15686157: 15686157
71BTDNM_000060.4(BTD): c.814T> G (p.Trp272Gly)SNVPathogenicrs397514387GRCh37Chr 3, 15686177: 15686177
72BTDNM_000060.4(BTD): c.832C> G (p.Leu278Val)SNVPathogenicrs397514388GRCh37Chr 3, 15686195: 15686195
73BTDNM_000060.4(BTD): c.833T> C (p.Leu278Pro)SNVPathogenicrs397514389GRCh37Chr 3, 15686196: 15686196
74BTDNM_000060.4(BTD): c.836T> G (p.Leu279Trp)SNVPathogenicrs397514390GRCh37Chr 3, 15686199: 15686199
75BTDNM_000060.4(BTD): c.880A> G (p.Ile294Val)SNVPathogenicrs35976361GRCh37Chr 3, 15686243: 15686243
76BTDNM_000060.4(BTD): c.887T> G (p.Val296Gly)SNVPathogenicrs397514391GRCh37Chr 3, 15686250: 15686250
77BTDNM_000060.4(BTD): c.896C> T (p.Ala299Val)SNVPathogenicrs397514392GRCh37Chr 3, 15686259: 15686259
78BTDNM_000060.4(BTD): c.929G> A (p.Gly310Glu)SNVPathogenicrs397514393GRCh37Chr 3, 15686292: 15686292
79BTDNM_000060.4(BTD): c.932G> A (p.Ser311Asn)SNVPathogenicrs397514394GRCh37Chr 3, 15686295: 15686295
80BTDNM_000060.4(BTD): c.933delT (p.Ser311Argfs)deletionLikely pathogenic, Pathogenicrs397514395GRCh37Chr 3, 15686296: 15686296
81BTDNM_000060.4(BTD): c.933T> G (p.Ser311Arg)SNVPathogenicrs397514386GRCh37Chr 3, 15686296: 15686296
82BTDNM_000060.4(BTD): c.934G> A (p.Gly312Ser)SNVPathogenicrs397514396GRCh37Chr 3, 15686297: 15686297
83BTDNM_000060.4(BTD): c.935G> A (p.Gly312Asp)SNVPathogenicrs377651057GRCh37Chr 3, 15686298: 15686298
84BTDNM_000060.4(BTD): c.1049delC (p.Ala350Glufs)deletionPathogenicrs397514397GRCh37Chr 3, 15686412: 15686412
85BTDNM_000060.4(BTD): c.1052delC (p.Thr351Lysfs)deletionPathogenicrs397514398GRCh37Chr 3, 15686415: 15686415
86BTDNM_000060.4(BTD): c.1096T> C (p.Ser366Pro)SNVPathogenicrs397514399GRCh37Chr 3, 15686459: 15686459
87BTDNM_000060.4(BTD): c.1106C> T (p.Pro369Leu)SNVPathogenicrs397514400GRCh37Chr 3, 15686469: 15686469
88BTDNM_000060.4(BTD): c.1191_1192delGA (p.Glu397Aspfs)deletionPathogenicrs397514403GRCh37Chr 3, 15686554: 15686555
89BTDNM_000060.4(BTD): c.1205A> G (p.Asn402Ser)SNVPathogenicrs201023772GRCh37Chr 3, 15686568: 15686568
90BTDNM_000060.4(BTD): c.1211C> T (p.Thr404Ile)SNVPathogenicrs397514405GRCh37Chr 3, 15686574: 15686574
91BTDNM_000060.4(BTD): c.1214T> C (p.Leu405Pro)SNVPathogenicrs397514406GRCh37Chr 3, 15686577: 15686577
92BTDNM_000060.4(BTD): c.1227_1241delGGGAAAGGAAGGCTAins11indelPathogenicrs672601248GRCh37Chr 3, 15686590: 15686604
93BTDNM_000060.4(BTD): c.1239delC (p.Tyr414Ilefs)deletionPathogenicrs397514407GRCh37Chr 3, 15686602: 15686602
94BTDNM_000060.4(BTD): c.1252T> C (p.Cys418Arg)SNVPathogenicrs397514408GRCh37Chr 3, 15686615: 15686615
95BTDNM_000060.4(BTD): c.1249G> T (p.Val417Phe)SNVPathogenicrs397514409GRCh37Chr 3, 15686612: 15686612
96BTDNM_000060.4(BTD): c.1253G> C (p.Cys418Ser)SNVPathogenicrs397514410GRCh37Chr 3, 15686616: 15686616
97BTDNM_000060.4(BTD): c.1264dupC (p.Leu422Profs)duplicationPathogenicrs397514411GRCh37Chr 3, 15686627: 15686627
98BTDNM_000060.4(BTD): c.1267T> C (p.Cys423Arg)SNVPathogenicrs397514412GRCh37Chr 3, 15686630: 15686630
99BTDNM_000060.4(BTD): c.1268G> C (p.Cys423Ser)SNVPathogenicrs397514413GRCh37Chr 3, 15686631: 15686631
100BTDNM_000060.4(BTD): c.1271G> A (p.Cys424Tyr)SNVPathogenicrs397514335GRCh37Chr 3, 15686634: 15686634
101BTDNM_000060.4(BTD): c.1271G> C (p.Cys424Ser)SNVPathogenicrs397514335GRCh37Chr 3, 15686634: 15686634
102BTDNM_000060.4(BTD): c.1275T> G (p.Tyr425Ter)SNVPathogenicrs397514414GRCh37Chr 3, 15686638: 15686638
103BTDNM_000060.4(BTD): c.1284C> A (p.Tyr428Ter)SNVPathogenicrs35145938GRCh37Chr 3, 15686647: 15686647
104BTDNM_000060.4(BTD): c.1313A> G (p.Tyr438Cys)SNVPathogenicrs397514415GRCh37Chr 3, 15686676: 15686676
105BTDNM_000060.4(BTD): c.1314T> A (p.Tyr438Ter)SNVLikely pathogenic, Pathogenicrs397514416GRCh37Chr 3, 15686677: 15686677
106BTDNM_000060.4(BTD): c.1333G> A (p.Gly445Arg)SNVPathogenicrs397514417GRCh37Chr 3, 15686696: 15686696
107BTDNM_000060.4(BTD): c.1339C> T (p.His447Tyr)SNVPathogenicrs397514418GRCh37Chr 3, 15686702: 15686702
108BTDNM_000060.4(BTD): c.1352G> A (p.Gly451Asp)SNVPathogenicrs397514419GRCh37Chr 3, 15686715: 15686715
109BTDNM_000060.4(BTD): c.1369G> A (p.Val457Met)SNVPathogenicrs146600671GRCh37Chr 3, 15686732: 15686732
110BTDNM_000060.4(BTD): c.1384delA (p.Arg462Glyfs)deletionPathogenicrs397514420GRCh37Chr 3, 15686747: 15686747
111BTDNM_000060.4(BTD): c.1388G> A (p.Cys463Tyr)SNVPathogenicrs397514421GRCh37Chr 3, 15686751: 15686751
112BTDNM_000060.4(BTD): c.1432G> C (p.Ala478Pro)SNVPathogenicrs181396238GRCh37Chr 3, 15686795: 15686795
113BTDNM_000060.4(BTD): c.1455C> G (p.His485Gln)SNVPathogenicrs201604102GRCh37Chr 3, 15686818: 15686818
114BTDNM_000060.4(BTD): c.1459T> C (p.Trp487Arg)SNVPathogenicrs397514422GRCh37Chr 3, 15686822: 15686822
115BTDNM_000060.4(BTD): c.1459delT (p.Trp487Glyfs)deletionLikely pathogenic, Pathogenicrs397514423GRCh37Chr 3, 15686822: 15686822
116BTDNM_000060.4(BTD): c.1463G> A (p.Gly488Asp)SNVPathogenicrs397514424GRCh37Chr 3, 15686826: 15686826
117BTDNM_000060.4(BTD): c.1489C> T (p.Pro497Ser)SNVPathogenicrs138818907GRCh37Chr 3, 15686852: 15686852
118BTDNM_000060.4(BTD): c.1493dupT (p.Leu498Phefs)duplicationPathogenicrs397514425GRCh37Chr 3, 15686856: 15686856
119BTDNM_000060.4(BTD): c.1511T> A (p.Met504Lys)SNVPathogenicrs397514426GRCh37Chr 3, 15686874: 15686874
120BTDNM_000060.4(BTD): c.1531C> G (p.Gln511Glu)SNVPathogenicrs397514427GRCh37Chr 3, 15686894: 15686894
121BTDNM_000060.4(BTD): c.1610G> A (p.Gly537Glu)SNVPathogenicrs397514428GRCh37Chr 3, 15686973: 15686973
122BTDNM_000060.4(BTD): c.1613G> A (p.Arg538His)SNVPathogenicrs397514429GRCh37Chr 3, 15686976: 15686976
123BTDNM_000060.4(BTD): c.1616dupT (p.Leu539Phefs)duplicationPathogenicrs397514430GRCh37Chr 3, 15686979: 15686979
124BTDNM_000060.4(BTD): c.1619A> G (p.Tyr540Cys)SNVPathogenicrs397514431GRCh37Chr 3, 15686982: 15686982
125BTDNM_000060.4(BTD): c.1627G> C (p.Asp543His)SNVPathogenicrs397514432GRCh37Chr 3, 15686990: 15686990
126BTDNM_000060.4(BTD): c.1629C> A (p.Asp543Glu)SNVLikely pathogenicrs146136265GRCh37Chr 3, 15686992: 15686992
127BTDNM_000060.4(BTD): c.664G> C (p.Asp222His)SNVPathogenicrs200337373GRCh37Chr 3, 15686027: 15686027
128BTDNM_000060.4(BTD): c.1001T> A (p.Ile334Asn)SNVPathogenicrs397514433GRCh37Chr 3, 15686364: 15686364
129BTDNM_000060.4(BTD): c.1046A> C (p.Asn349Thr)SNVPathogenicrs200327983GRCh37Chr 3, 15686409: 15686409
130BTDNM_000060.4(BTD): c.1432G> A (p.Ala478Thr)SNVPathogenicrs181396238GRCh37Chr 3, 15686795: 15686795
131BTDNM_000060.4(BTD): c.1410dupC (p.Cys471Leufs)duplicationLikely pathogenic, Pathogenicrs886041559GRCh37Chr 3, 15686773: 15686773
132BTDNM_000060.2: c.372_375dupCATTduplicationLikely pathogenicChr na, -1: -1
133BTDNM_000060.2: c.1129G> TSNVLikely pathogenicChr na, -1: -1
134BTDNM_000060.2: c.44+1G> ASNVLikely pathogenicChr na, -1: -1
135BTDNM_000060.2: c.44+1G> CSNVLikely pathogenicChr na, -1: -1
136BTDNM_000060.2: c.44+1G> TSNVLikely pathogenicChr na, -1: -1
137BTDNM_000060.2: c.107dupAduplicationLikely pathogenicChr na, -1: -1
138BTDNM_000060.2: c.309+1G> TSNVLikely pathogenicChr na, -1: -1
139BTDNM_000060.2: c.44+1delGdeletionLikely pathogenicChr na, -1: -1
140BTDNM_000060.2: c.43A> TSNVLikely pathogenicChr na, -1: -1
141BTDNM_000060.2: c.1307_1308delAGdeletionLikely pathogenicChr na, -1: -1
142BTDNM_000060.2: c.1170_1171dupTCduplicationLikely pathogenicChr na, -1: -1
143BTDNM_000060.2: c.1324delGdeletionLikely pathogenicChr na, -1: -1
144BTDNM_000060.4(BTD): c.559C> T (p.Pro187Ser)SNVPathogenicrs397507173GRCh37Chr 3, 15685922: 15685922
145BTDNM_000060.4(BTD): c.629A> G (p.Tyr210Cys)SNVLikely pathogenic, Pathogenicrs397507174GRCh37Chr 3, 15685992: 15685992
146BTDNM_000060.4(BTD): c.968A> G (p.His323Arg)SNVPathogenicrs397507176GRCh37Chr 3, 15686331: 15686331
147BTDNM_000060.4(BTD): c.734G> A (p.Cys245Tyr)SNVLikely pathogenic, Pathogenicrs397507175GRCh37Chr 3, 15686097: 15686097
148BTDNM_000060.4(BTD): c.326T> G (p.Val109Gly)SNVPathogenicrs397507172GRCh37Chr 3, 15683431: 15683431
149BTDNM_000060.4(BTD): c.511G> A (p.Ala171Thr)SNVPathogenicrs13073139GRCh37Chr 3, 15685874: 15685874
150BTDNM_000060.4(BTD): c.128A> G (p.His43Arg)SNVPathogenicrs146011150GRCh37Chr 3, 15677014: 15677014
151BTDNM_000060.4(BTD): c.245C> A (p.Ala82Asp)SNVPathogenicrs397507171GRCh37Chr 3, 15677131: 15677131
152BTDNM_000060.4(BTD): c.184G> A (p.Val62Met)SNVPathogenicrs397507170GRCh37Chr 3, 15677070: 15677070
153BTDNM_000060.4(BTD): c.98_104delGCGGCTGinsTCC (p.Cys33Phefs)indel, HaplotypePathogenicrs80338684GRCh37Chr 3, 15676984: 15676990
154BTDNM_000060.4(BTD): c.212T> C (p.Leu71Pro)SNV, HaplotypePathogenicrs397514333GRCh37Chr 3, 15677098: 15677098
155BTDNM_000060.4(BTD): c.235C> T (p.Arg79Cys)SNV, HaplotypePathogenicrs104893687GRCh37Chr 3, 15677121: 15677121
156BTDNM_000060.4(BTD): c.236G> A (p.Arg79His)SNVPathogenicrs397514343GRCh37Chr 3, 15677122: 15677122
157BTDNM_000060.4(BTD): c.1330G> C (p.Asp444His)SNV, HaplotypePathogenicrs13078881GRCh37Chr 3, 15686693: 15686693
158BTDNM_000060.4(BTD): c.1158G> A (p.Trp386Ter)SNVLikely pathogenic, Pathogenicrs397514434GRCh37Chr 3, 15686521: 15686521
159BTDNM_000060.4(BTD): c.1334G> T (p.Gly445Val)SNV, HaplotypePathogenicrs397514402GRCh37Chr 3, 15686697: 15686697
160BTDNM_000060.4(BTD): c.1241_1252delATCTCCACGTCT (p.Tyr414_Val417del)deletionPathogenicrs397514404GRCh37Chr 3, 15686604: 15686615
161BTDNM_000060.4(BTD): c.192G> C (p.Glu64Asp)SNVPathogenicrs397514436GRCh37Chr 3, 15677078: 15677078
162BTDNM_000060.4(BTD): c.518T> G (p.Leu173Arg)SNVPathogenicrs397514437GRCh37Chr 3, 15685881: 15685881
163BTDNM_000060.4(BTD): c.758C> T (p.Pro253Leu)SNVPathogenicrs397514438GRCh37Chr 3, 15686121: 15686121
164BTDNM_000060.4(BTD): c.1237G> A (p.Gly413Ser)SNVPathogenicrs374141881GRCh37Chr 3, 15686600: 15686600
165BTDNM_000060.4(BTD): c.407dupA (p.Val137Glyfs)duplicationPathogenicrs397514439GRCh37Chr 3, 15683512: 15683512
166BTDNM_000060.4(BTD): c.641A> G (p.Asn214Ser)SNVPathogenicrs397514377GRCh37Chr 3, 15686004: 15686004
167BTDNM_000060.4(BTD): c.1394dupG (p.Leu466Serfs)duplicationLikely pathogenic, Pathogenicrs397514440GRCh37Chr 3, 15686757: 15686757
168BTDNM_000060.4(BTD): c.1508_1512delGGATG (p.Gly503Aspfs)deletionPathogenicrs398123138GRCh37Chr 3, 15686871: 15686875
169BTDNM_000060.4(BTD): c.626G> A (p.Arg209His)SNVPathogenicrs398123139GRCh37Chr 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
69.0ACADM, 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:00067689.6BTD, HLCS, PCCB
2response to coldGO:00094099.5ACADM, LPL
3response to glucoseGO:00097499.3EIF2B4, LPL

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