Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Academic Licensing Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: BTN003
MIFTS: 56

Biotinidase Deficiency

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Metabolic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Biotinidase Deficiency

About this section

MalaCards integrated aliases for Biotinidase Deficiency:

Name: Biotinidase Deficiency 57 12 76 24 53 25 59 75 37 29 13 55 6 44 15 73
Late-Onset Multiple Carboxylase Deficiency 12 24 53 25 59 75
Btd Deficiency 57 12 53 25 59 75
Multiple Carboxylase Deficiency, Juvenile-Onset 57 75 73
Multiple Carboxylase Deficiency, Late-Onset 57 25 75
Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency 53 25
Juvenile-Onset Multiple Carboxylase Deficiency 12 59
Biotin Deficiency 53 73
Carboxylase Deficiency, Multiple, Late-Onset 25
Deficiency of Biotinidase 12
Biotin Deficiency Disease 73
Deficiency, Biotinidase 40
Mcd Juvenile Form 75
Late-Onset Mcd 75
Biotinidase 13
Biot 25

Characteristics:

Orphanet epidemiological data:

59
biotinidase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
age of onset usually 1 week to 2 years


HPO:

32
biotinidase deficiency:
Inheritance autosomal recessive inheritance


GeneReviews:

24
Penetrance Almost all children with profound biotinidase deficiency become symptomatic or are at risk of becoming symptomatic if not treated...

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare skin diseases
Inborn errors of metabolism


Sources

Summaries for Biotinidase Deficiency

About this section
NIH Rare Diseases : 53 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.

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 apnea, ataxia and diarrhea. An important gene associated with Biotinidase Deficiency is BTD (Biotinidase), and among its related pathways/superpathways are Biotin metabolism and Vitamin digestion and absorption. The drugs Miconazole and Antifungal Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, cerebellum and testes, and related phenotypes are muscular hypotonia and generalized myoclonic seizures

OMIM : 57 Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder characterized primarily by cutaneous and neurologic abnormalities. Symptoms result from the patient's inability to reutilize biotin, a necessary nutrient. Sweetman (1981) recognized that multiple carboxylase deficiency could be classified into early (see 253270) and late forms. The early form showed higher urinary excretion of 3-hydroxyisovaleric acid and 3-hydroxypropionic acid than the late form and was associated with normal plasma biotin concentrations. Sweetman (1981) proposed a defect in holocarboxylase synthetase and intestinal biotin absorption, respectively. Some patients with biotinidase deficiency present in infancy (Baumgartner et al., 1985; Kalayci et al., 1994), and some individuals with this deficiency are asymptomatic (Wolf et al., 1997). (253260)

UniProtKB/Swiss-Prot : 75 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.

Disease Ontology : 12 A multiple carboxylase deficiency that involves a deficiency in biotinidase.

Wikipedia : 76 Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from... more...

GeneReviews: NBK1322
Sources

Related Diseases for Biotinidase Deficiency

About this section

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

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 holocarboxylase synthetase deficiency 31.9 BTD HLCS
2 biotin deficiency 30.8 BTD HLCS PCCB
3 multiple carboxylase deficiency 29.9 BTD HLCS MCCC2 PCCB
4 3-methylglutaconic aciduria, type iii 28.9 BTD EIF2B4
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
6 carbohydrate metabolic disorder 10.1 BTD HLCS
7 neuropathy 10.0
8 encephalopathy 10.0
9 multiple sclerosis 10.0
10 galactosemia 10.0
11 neuromyelitis optica 10.0
12 optic nerve disease 10.0
13 fatal familial insomnia 9.9
14 bacterial meningitis 9.9
15 meningitis 9.9
16 amino acid metabolic disorder 9.9 BTD PCCB
17 aging 9.9
18 congenital hypothyroidism 9.9
19 hypothyroidism 9.9
20 infantile epileptic encephalopathy 9.9
21 cerebritis 9.9
22 neonatal hypothyroidism 9.9
23 coffin-siris syndrome 1 9.7
24 pancreas, annular 9.7
25 vater/vacterl association 9.7
26 autism 9.7
27 celiac disease 1 9.7
28 leigh syndrome 9.7
29 phenylketonuria 9.7
30 adrenoleukodystrophy 9.7
31 combined immunodeficiency, x-linked 9.7
32 juvenile myelomonocytic leukemia 9.7
33 leukemia 9.7
34 severe combined immunodeficiency 9.7
35 skin disease 9.7
36 basal ganglia calcification 9.7
37 respiratory failure 9.7
38 optic neuritis 9.7
39 vacterl association 9.7
40 candidiasis 9.7
41 neuritis 9.7
42 epilepsy 9.7
43 vaginitis 9.7
44 spinal cord disease 9.7
45 laryngitis 9.7
46 lactic acidosis 9.7
47 myopathy 9.7
48 paraplegia 9.7
49 auditory neuropathy spectrum disorder 9.7
50 neuromyelitis optica spectrum disorder 9.7

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



Diseases related to Biotinidase Deficiency
Sources

Symptoms & Phenotypes for Biotinidase Deficiency

About this section

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ataxia
lethargy
diffuse cerebellar atrophy
diffuse cerebral atrophy
more
Abdomen Liver:
hepatomegaly

Abdomen Gastrointestinal:
vomiting
feeding difficulties
diarrhea

Respiratory:
apnea
tachypnea
breathing problems

Metabolic Features:
metabolic ketoacidosis
organic aciduria

Laboratory Abnormalities:
organic aciduria (elevated beta-hydroxyisovalerate, lactate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate)
mild hyperammonemia
biotinidase deficiency

AbdomenSpleen:
splenomegaly

Head And Neck Eyes:
optic atrophy
conjunctivitis
vision loss

Skin Nails Hair Hair:
alopecia

Skin Nails Hair Skin:
seborrheic dermatitis
skin rash
skin infections

Head And Neck Ears:
hearing loss, sensorineural


Clinical features from OMIM:

253260

Human phenotypes related to Biotinidase Deficiency:

59 32 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
2 generalized myoclonic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002123
3 metabolic ketoacidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005979
4 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
5 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
6 keratoconjunctivitis 59 32 frequent (33%) Frequent (79-30%) HP:0001096
7 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
8 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
9 alopecia 59 32 frequent (33%) Frequent (79-30%) HP:0001596
10 desquamation of skin soon after birth 59 32 frequent (33%) Frequent (79-30%) HP:0007549
11 perioral eczema 59 32 frequent (33%) Frequent (79-30%) HP:0011127
12 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
13 visual field defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001123
14 lethargy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001254
15 coma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001259
16 hypertonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001276
17 muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001324
18 growth delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001510
19 apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002104
20 recurrent fungal infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002841
21 hyperventilation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002883
22 laryngeal stridor 59 32 occasional (7.5%) Occasional (29-5%) HP:0006511
23 iris hypopigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007730
24 abnormality of the cerebellum 59 Occasional (29-5%)
25 sensorineural hearing impairment 32 HP:0000407
26 conjunctivitis 32 HP:0000509
27 visual loss 32 HP:0000572
28 skin rash 32 HP:0000988
29 seborrheic dermatitis 32 HP:0001051
30 seizures 32 HP:0001250
31 generalized hypotonia 32 HP:0001290
32 recurrent skin infections 32 HP:0001581
33 splenomegaly 32 HP:0001744
34 hyperammonemia 32 HP:0001987
35 organic aciduria 32 HP:0001992
36 vomiting 32 HP:0002013
37 diarrhea 32 HP:0002014
38 hepatomegaly 32 HP:0002240
39 diffuse cerebral atrophy 32 HP:0002506
40 tachypnea 32 HP:0002789
41 feeding difficulties in infancy 32 HP:0008872
42 diffuse cerebellar atrophy 32 HP:0100275
43 decreased biotinidase activity 32 HP:0410145

UMLS symptoms related to Biotinidase Deficiency:


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

Drugs & Therapeutics for Biotinidase Deficiency

About this section

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
2 Antifungal Agents Phase 2
3 Anti-Infective Agents Phase 2
4 Antirheumatic Agents Phase 2
5 Calcineurin Inhibitors Phase 2
6 Cyclosporins Phase 2
7 Dermatologic Agents Phase 2
8 Immunosuppressive Agents Phase 2
9
Biotin Approved, Investigational, Nutraceutical Not Applicable 58-85-5 171548
10
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
11 Micronutrients Not Applicable
12 Trace Elements Not Applicable
13 Vitamin B Complex Not Applicable
14 Vitamins Not Applicable
15 Folate Nutraceutical Not Applicable
16 Vitamin B7 Nutraceutical Not Applicable
17 Vitamin B9 Nutraceutical Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of ORL-1B in Patients With Biotinidase Deficiency Completed NCT03269045 Phase 1, Phase 2 ORL-1B
2 Topical Cyclosporine Suspension for the Treatment of Brittle Nails Completed NCT01064830 Phase 2 topical cyclosporine ophthalmic suspension 0.05%;vehicle
3 Biotin Deficiency and Restless Legs Syndrome Completed NCT02011191 Not Applicable
4 Biotin Status in Pregnancy Completed NCT00894920 Not Applicable
5 BIOtinidase Test In Optic-Neuropathy Recruiting NCT03268681

Search NIH Clinical Center for Biotinidase Deficiency

Cochrane evidence based reviews: biotinidase deficiency

Sources

Genetic Tests for Biotinidase Deficiency

About this section

Genetic tests related to Biotinidase Deficiency:

# Genetic test Affiliating Genes
1 Biotinidase Deficiency 29 BTD
Sources

Anatomical Context for Biotinidase Deficiency

About this section

MalaCards organs/tissues related to Biotinidase Deficiency:

41
Skin, Cerebellum, Testes, Spinal Cord, Brain, Eye, Pancreas
Sources

Publications for Biotinidase Deficiency

About this section

Articles related to Biotinidase Deficiency:

(show top 50) (show all 241)
# Title Authors Year
1
Are we missing patients with biotinidase deficiency in France? ( 29778138 )
2018
2
Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey. ( 29353266 )
2018
3
Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: A BabySeq Project case report. ( 29728376 )
2018
4
Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China. ( 29359854 )
2018
5
Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers. ( 29680633 )
2018
6
Characterizing the Biotinidase Deficiency in a Child When Considering a Possible Disease Association. ( 28991128 )
2018
7
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics. ( 28682309 )
2017
8
Corrigendum to "First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children" [Mol. Genet. Metab. Rep. 2 (2016) 81-84]. ( 28653700 )
2017
9
Reply to the letter: Biotinidase deficiency masquerading as multiple sclerosis? ( 28337934 )
2017
10
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. ( 28498829 )
2017
11
Neonatal screening for biotinidase deficiency: A 30-year single center experience. ( 28971021 )
2017
12
Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. ( 28640880 )
2017
13
Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy. ( 29025919 )
2017
14
Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency. ( 28220409 )
2017
15
Biotinidase deficiency masquerading as multiple sclerosis? ( 28337933 )
2017
16
ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics. ( 29240078 )
2017
17
"Think metabolic" in adults with diagnostic challenges: Biotinidase deficiency as a paradigm disorder. ( 29431165 )
2017
18
Developmental window of sensorineural deafness in biotinidase-deficient mice. ( 28516283 )
2017
19
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency. ( 28281033 )
2017
20
Comment on: Childhood optic atrophy in biotinidase deficiency. ( 27688290 )
2016
21
A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit. ( 27761288 )
2016
22
Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population. ( 27845546 )
2016
23
First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice. ( 27014582 )
2016
24
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations. ( 27329734 )
2016
25
Forty-eight novel mutations causing biotinidase deficiency. ( 26810761 )
2016
26
Diagnostic Dilemma Of Biotinidase Deficiency: Case Of A Child From Pakistan. ( 28586590 )
2016
27
Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency. ( 27144235 )
2016
28
Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease. ( 27207447 )
2016
29
Celiac Disease Presenting with Biotinidase Deficiency and Paraplegia. ( 26830281 )
2016
30
Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency. ( 28356871 )
2016
31
Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn. ( 26656798 )
2016
32
Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. ( 27657684 )
2016
33
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014). ( 26361991 )
2015
34
Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report. ( 26221165 )
2015
35
Biotinidase deficiency and our champagne legacy. ( 26456103 )
2015
36
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. ( 25795614 )
2015
37
Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency. ( 26169436 )
2015
38
Clinical utility gene card for: Biotinidase deficiency-update 2015. ( 26577040 )
2015
39
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss. ( 26358973 )
2015
40
Why screen newborns for profound and partial biotinidase deficiency? ( 25638506 )
2015
41
Biotinidase deficiency mimicking primary immune deficiencies. ( 25956498 )
2015
42
Brainstem and spinal cord lesions associated with skin changes and hearing loss: think of biotinidase deficiency. ( 25556014 )
2015
43
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood. ( 26203071 )
2015
44
Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder. ( 26037171 )
2015
45
High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil. ( 25967232 )
2015
46
Mutations in BTD gene causing biotinidase deficiency: a regional report. ( 25423671 )
2015
47
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. ( 25174816 )
2014
48
Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India. ( 25228601 )
2014
49
Biotinidase deficiency: Novel mutations in Algerian patients. ( 23481307 )
2014
50
Management of anesthesia in biotinidase deficiency. ( 24574621 )
2014
Sources

Variations for Biotinidase Deficiency

About this section

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

75
# Symbol AA change Variation ID SNP ID
1 BTD p.Phe128Val VAR_005113 rs397514355
2 BTD p.Ala171Thr VAR_005114 rs13073139
3 BTD p.Asp228Tyr VAR_005115 rs397514380
4 BTD p.His323Arg VAR_005116 rs397507176
5 BTD p.Asp444His VAR_005117 rs13078881
6 BTD p.Gly451Asp VAR_005118 rs397514419
7 BTD p.Gln456His VAR_005119 rs80338685
8 BTD p.Thr532Met VAR_005120 rs104893688
9 BTD p.Arg538Cys VAR_005121 rs80338686

ClinVar genetic disease variations for Biotinidase Deficiency:

6
(show top 50) (show all 364)
# Gene Variation Type Significance SNP ID Assembly Location
1 BTD NM_000060.4(BTD): c.98_104delGCGGCTGinsTCC (p.Cys33Phefs) indel Pathogenic rs80338684 GRCh37 Chromosome 3, 15676984: 15676990
2 BTD NM_000060.4(BTD): c.98_104delGCGGCTGinsTCC (p.Cys33Phefs) indel Pathogenic rs80338684 GRCh38 Chromosome 3, 15635477: 15635483
3 BTD BTD, 15-BP DEL/11-BP INS indel Pathogenic
4 BTD NM_000060.4(BTD): c.1595C> T (p.Thr532Met) single nucleotide variant Pathogenic rs104893688 GRCh37 Chromosome 3, 15686958: 15686958
5 BTD NM_000060.4(BTD): c.1595C> T (p.Thr532Met) single nucleotide variant Pathogenic rs104893688 GRCh38 Chromosome 3, 15645451: 15645451
6 BTD NM_000060.4(BTD): c.1612C> T (p.Arg538Cys) single nucleotide variant Pathogenic rs80338686 GRCh37 Chromosome 3, 15686975: 15686975
7 BTD NM_000060.4(BTD): c.1612C> T (p.Arg538Cys) single nucleotide variant Pathogenic rs80338686 GRCh38 Chromosome 3, 15645468: 15645468
8 BTD NM_000060.4(BTD): c.100G> A (p.Gly34Ser) single nucleotide variant Pathogenic rs119103232 GRCh37 Chromosome 3, 15676986: 15676986
9 BTD NM_000060.4(BTD): c.100G> A (p.Gly34Ser) single nucleotide variant Pathogenic rs119103232 GRCh38 Chromosome 3, 15635479: 15635479
10 BTD NM_001281724.2(BTD): c.1336G> C (p.Asp446His) single nucleotide variant Pathogenic/Likely pathogenic rs13078881 GRCh37 Chromosome 3, 15686693: 15686693
11 BTD NM_001281724.2(BTD): c.1336G> C (p.Asp446His) single nucleotide variant Pathogenic/Likely pathogenic rs13078881 GRCh38 Chromosome 3, 15645186: 15645186
12 BTD NM_000060.4(BTD): c.755A> G (p.Asp252Gly) single nucleotide variant Pathogenic rs28934601 GRCh37 Chromosome 3, 15686118: 15686118
13 BTD NM_000060.4(BTD): c.755A> G (p.Asp252Gly) single nucleotide variant Pathogenic rs28934601 GRCh38 Chromosome 3, 15644611: 15644611
14 BTD NM_000060.4(BTD): c.1368A> C (p.Gln456His) single nucleotide variant Pathogenic rs80338685 GRCh37 Chromosome 3, 15686731: 15686731
15 BTD NM_000060.4(BTD): c.1368A> C (p.Gln456His) single nucleotide variant Pathogenic rs80338685 GRCh38 Chromosome 3, 15645224: 15645224
16 BTD NM_000060.4(BTD): c.1207T> G (p.Phe403Val) single nucleotide variant Pathogenic rs104893686 GRCh37 Chromosome 3, 15686570: 15686570
17 BTD NM_000060.4(BTD): c.1207T> G (p.Phe403Val) single nucleotide variant Pathogenic rs104893686 GRCh38 Chromosome 3, 15645063: 15645063
18 BTD NM_000060.4(BTD): c.235C> T (p.Arg79Cys) single nucleotide variant Pathogenic rs104893687 GRCh37 Chromosome 3, 15677121: 15677121
19 BTD NM_000060.4(BTD): c.235C> T (p.Arg79Cys) single nucleotide variant Pathogenic rs104893687 GRCh38 Chromosome 3, 15635614: 15635614
20 BTD NM_000060.4(BTD): c.1157G> A (p.Trp386Ter) single nucleotide variant Pathogenic rs397514401 GRCh37 Chromosome 3, 15686520: 15686520
21 BTD NM_000060.4(BTD): c.1157G> A (p.Trp386Ter) single nucleotide variant Pathogenic rs397514401 GRCh38 Chromosome 3, 15645013: 15645013
22 BTD NM_000060.4(BTD): c.341G> T (p.Gly114Val) single nucleotide variant Pathogenic rs375712490 GRCh37 Chromosome 3, 15683446: 15683446
23 BTD NM_000060.4(BTD): c.334G> A (p.Glu112Lys) single nucleotide variant Pathogenic rs397514352 GRCh38 Chromosome 3, 15641932: 15641932
24 BTD NM_000060.4(BTD): c.341G> T (p.Gly114Val) single nucleotide variant Pathogenic rs375712490 GRCh38 Chromosome 3, 15641939: 15641939
25 BTD NM_000060.4(BTD): c.334G> A (p.Glu112Lys) single nucleotide variant Pathogenic rs397514352 GRCh37 Chromosome 3, 15683439: 15683439
26 BTD NM_000060.4(BTD): c.356A> G (p.Asn119Ser) single nucleotide variant Pathogenic rs397514353 GRCh37 Chromosome 3, 15683461: 15683461
27 BTD NM_000060.4(BTD): c.1271G> C (p.Cys424Ser) single nucleotide variant Pathogenic rs397514335 GRCh37 Chromosome 3, 15686634: 15686634
28 BTD NM_000060.4(BTD): c.1271G> C (p.Cys424Ser) single nucleotide variant Pathogenic rs397514335 GRCh38 Chromosome 3, 15645127: 15645127
29 BTD NM_000060.4(BTD): c.136G> T (p.Glu46Ter) single nucleotide variant Pathogenic rs397514336 GRCh37 Chromosome 3, 15677022: 15677022
30 BTD NM_000060.4(BTD): c.136G> T (p.Glu46Ter) single nucleotide variant Pathogenic rs397514336 GRCh38 Chromosome 3, 15635515: 15635515
31 BTD NM_000060.4(BTD): c.171T> G (p.Tyr57Ter) single nucleotide variant Pathogenic rs397514339 GRCh37 Chromosome 3, 15677057: 15677057
32 BTD NM_000060.4(BTD): c.171T> G (p.Tyr57Ter) single nucleotide variant Pathogenic rs397514339 GRCh38 Chromosome 3, 15635550: 15635550
33 BTD NM_000060.4(BTD): c.184G> T (p.Val62Leu) single nucleotide variant Pathogenic rs397507170 GRCh37 Chromosome 3, 15677070: 15677070
34 BTD NM_000060.4(BTD): c.184G> T (p.Val62Leu) single nucleotide variant Pathogenic rs397507170 GRCh38 Chromosome 3, 15635563: 15635563
35 BTD NM_000060.4(BTD): c.190G> A (p.Glu64Lys) single nucleotide variant Pathogenic rs397514340 GRCh37 Chromosome 3, 15677076: 15677076
36 BTD NM_000060.4(BTD): c.190G> A (p.Glu64Lys) single nucleotide variant Pathogenic rs397514340 GRCh38 Chromosome 3, 15635569: 15635569
37 BTD H65fs insertion Pathogenic
38 BTD NM_000060.4(BTD): c.194A> G (p.His65Arg) single nucleotide variant Pathogenic rs397514341 GRCh37 Chromosome 3, 15677080: 15677080
39 BTD NM_000060.4(BTD): c.194A> G (p.His65Arg) single nucleotide variant Pathogenic rs397514341 GRCh38 Chromosome 3, 15635573: 15635573
40 BTD NM_000060.4(BTD): c.245C> T (p.Ala82Val) single nucleotide variant Pathogenic rs397507171 GRCh37 Chromosome 3, 15677131: 15677131
41 BTD NM_000060.4(BTD): c.245C> T (p.Ala82Val) single nucleotide variant Pathogenic rs397507171 GRCh38 Chromosome 3, 15635624: 15635624
42 BTD NM_000060.4(BTD): c.246_254delCTTGGAGCT (p.Leu83_Leu85del) deletion Pathogenic rs397514346 GRCh37 Chromosome 3, 15677132: 15677140
43 BTD NM_000060.4(BTD): c.246_254delCTTGGAGCT (p.Leu83_Leu85del) deletion Pathogenic rs397514346 GRCh38 Chromosome 3, 15635625: 15635633
44 BTD NM_000060.4(BTD): c.248T> C (p.Leu83Ser) single nucleotide variant Pathogenic rs397514347 GRCh37 Chromosome 3, 15677134: 15677134
45 BTD NM_000060.4(BTD): c.248T> C (p.Leu83Ser) single nucleotide variant Pathogenic rs397514347 GRCh38 Chromosome 3, 15635627: 15635627
46 BTD NM_000060.4(BTD): c.262C> T (p.Gln88Ter) single nucleotide variant Pathogenic rs151071780 GRCh37 Chromosome 3, 15677148: 15677148
47 BTD NM_000060.4(BTD): c.262C> T (p.Gln88Ter) single nucleotide variant Pathogenic rs151071780 GRCh38 Chromosome 3, 15635641: 15635641
48 BTD NM_000060.4(BTD): c.278A> G (p.Tyr93Cys) single nucleotide variant Pathogenic rs397514348 GRCh37 Chromosome 3, 15677164: 15677164
49 BTD NM_000060.4(BTD): c.278A> G (p.Tyr93Cys) single nucleotide variant Pathogenic rs397514348 GRCh38 Chromosome 3, 15635657: 15635657
50 BTD NM_000060.4(BTD): c.298G> A (p.Ala100Thr) single nucleotide variant Pathogenic rs397514350 GRCh37 Chromosome 3, 15677184: 15677184
Sources

Expression for Biotinidase Deficiency

About this section
Search GEO for disease gene expression data for Biotinidase Deficiency.
Sources

Pathways for Biotinidase Deficiency

About this section

Pathways related to Biotinidase Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Biotin metabolism hsa00780
2 Vitamin digestion and absorption hsa04977

Pathways related to Biotinidase Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.37 BTD HACL1 HLCS LPL MCCC2 PCCB
2
Metabolism of water-soluble vitamins and cofactors 66
Show member pathways
 11.63 BTD HLCS LPL MCCC2 PCCB
3
Valine, leucine and isoleucine degradation 37
Show member pathways
 11.44 MCCC2 PCCB
4
Diseases of metabolism 66
Show member pathways
 11.29 MCCC2 PCCB
5
Defects in biotin (Btn) metabolism 66
Show member pathways
 10.23 MCCC2 PCCB
6
Biotin metabolism 37
9.43 BTD HLCS
Sources

GO Terms for Biotinidase Deficiency

About this section

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.8 BTD MCCC2 PCCB

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

# Name GO ID Score Top Affiliating Genes
1 response to glucose GO:0009749 9.16 EIF2B4 LPL
2 fatty acid biosynthetic process GO:0006633 8.96 LPL PCCB
3 biotin metabolic process GO:0006768 8.92 BTD HLCS MCCC2 PCCB

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

# Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 8.8 HLCS MCCC2 PCCB
Sources

Sources for Biotinidase Deficiency

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....