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BTD DEFICIENCY
MCID: BTN003
MIFTS: 54

Biotinidase Deficiency (BTD DEFICIENCY)

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

Aliases & Classifications for Biotinidase Deficiency

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MalaCards integrated aliases for Biotinidase Deficiency:

Name: Biotinidase Deficiency 58 12 77 25 54 26 60 76 38 30 13 56 6 45 15 74
Late-Onset Multiple Carboxylase Deficiency 12 25 54 26 60 76
Btd Deficiency 58 12 54 26 60 76
Multiple Carboxylase Deficiency, Juvenile-Onset 58 76 74
Multiple Carboxylase Deficiency, Late-Onset 58 26 76
Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency 54 26
Juvenile-Onset Multiple Carboxylase Deficiency 12 60
Biotin Deficiency 54 74
Carboxylase Deficiency, Multiple, Late-Onset 26
Deficiency of Biotinidase 12
Biotin Deficiency Disease 74
Deficiency, Biotinidase 41
Mcd Juvenile Form 76
Late-Onset Mcd 76
Biotinidase 13
Biot 26

Characteristics:

Orphanet epidemiological data:

60
biotinidase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
age of onset usually 1 week to 2 years


HPO:

33
biotinidase deficiency:
Inheritance autosomal recessive inheritance


GeneReviews:

25
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 Eye diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare neurological diseases
Rare skin diseases
Inborn errors of metabolism


Sources

Summaries for Biotinidase Deficiency

About this section
NIH Rare Diseases : 54 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 multiple carboxylase deficiency, and has symptoms including seizures, ataxia and vomiting. 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 Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include skin, cerebellum and spinal cord, and related phenotypes are muscular hypotonia and generalized myoclonic seizures

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

Genetics Home Reference : 26 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 : 58 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 : 76 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 : 77 Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from... more...

GeneReviews: NBK1322
Sources

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 top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 holocarboxylase synthetase deficiency 32.0 BTD HLCS
2 multiple carboxylase deficiency 31.7 BTD HLCS PCCB
3 biotin deficiency 31.2 BTD HLCS PCCB
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
5 encephalopathy 10.3
6 fatty liver disease 10.2
7 multiple sclerosis 10.2
8 neuropathy 10.2
9 galactosemia 10.1
10 neuromyelitis optica 10.1
11 optic nerve disease 10.1
12 neuromyelitis optica spectrum disorder 10.1
13 liver disease 10.1
14 3-methylglutaconic aciduria, type iii 10.1
15 west syndrome 10.1
16 congenital hypothyroidism 10.1
17 hypothyroidism 10.1
18 epilepsy 10.1
19 cryptorchidism, unilateral or bilateral 10.0
20 protein-energy malnutrition 10.0
21 dermatitis 10.0
22 coffin-siris syndrome 1 9.9
23 pancreas, annular 9.9
24 vater/vacterl association 9.9
25 autism 9.9
26 celiac disease 1 9.9
27 hyperlipoproteinemia, type i 9.9
28 leigh syndrome 9.9
29 phenylketonuria 9.9
30 adrenoleukodystrophy 9.9
31 juvenile myelomonocytic leukemia 9.9
32 epileptic encephalopathy, early infantile, 3 9.9
33 epileptic encephalopathy, early infantile, 4 9.9
34 leukemia 9.9
35 severe combined immunodeficiency 9.9
36 3-methylcrotonyl-coa carboxylase deficiency 9.9
37 respiratory failure 9.9
38 optic neuritis 9.9
39 vacterl association 9.9
40 candidiasis 9.9
41 neuritis 9.9
42 early myoclonic encephalopathy 9.9
43 spinal cord disease 9.9
44 lactic acidosis 9.9
45 myopathy 9.9
46 paraplegia 9.9
47 combined t cell and b cell immunodeficiency 9.9
48 adrenomyeloneuropathy 9.9
49 auditory neuropathy spectrum disorder 9.9
50 hypotonia 9.9

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



Diseases related to Biotinidase Deficiency
Sources

Symptoms & Phenotypes for Biotinidase Deficiency

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Human phenotypes related to Biotinidase Deficiency:

60 33 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
2 generalized myoclonic seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0002123
3 metabolic ketoacidosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0005979
4 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
5 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
6 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
7 optic atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0000648
8 alopecia 60 33 frequent (33%) Frequent (79-30%) HP:0001596
9 keratoconjunctivitis 60 33 frequent (33%) Frequent (79-30%) HP:0001096
10 desquamation of skin soon after birth 60 33 frequent (33%) Frequent (79-30%) HP:0007549
11 perioral eczema 60 33 frequent (33%) Frequent (79-30%) HP:0011127
12 muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0001324
13 hypertonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001276
14 growth delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001510
15 myopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000545
16 visual field defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001123
17 apnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002104
18 coma 60 33 occasional (7.5%) Occasional (29-5%) HP:0001259
19 lethargy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001254
20 iris hypopigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007730
21 recurrent fungal infections 60 33 occasional (7.5%) Occasional (29-5%) HP:0002841
22 hyperventilation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002883
23 laryngeal stridor 60 33 occasional (7.5%) Occasional (29-5%) HP:0006511
24 abnormal cerebellum morphology 33 occasional (7.5%) HP:0001317
25 seizures 33 HP:0001250
26 splenomegaly 33 HP:0001744
27 hepatomegaly 33 HP:0002240
28 sensorineural hearing impairment 33 HP:0000407
29 feeding difficulties in infancy 33 HP:0008872
30 vomiting 33 HP:0002013
31 visual loss 33 HP:0000572
32 seborrheic dermatitis 33 HP:0001051
33 diarrhea 33 HP:0002014
34 conjunctivitis 33 HP:0000509
35 skin rash 33 HP:0000988
36 hyperammonemia 33 HP:0001987
37 abnormality of the cerebellum 60 Occasional (29-5%)
38 generalized hypotonia 33 HP:0001290
39 recurrent skin infections 33 HP:0001581
40 tachypnea 33 HP:0002789
41 diffuse cerebellar atrophy 33 HP:0100275
42 organic aciduria 33 HP:0001992
43 diffuse cerebral atrophy 33 HP:0002506
44 decreased biotinidase activity 33 HP:0410145

Symptoms via clinical synopsis from OMIM:

58
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

Abdomen Spleen:
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

UMLS symptoms related to Biotinidase Deficiency:


seizures, ataxia, vomiting, apnea, diarrhea, lethargy, exanthema, 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 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
2 Immunologic Factors Phase 2
3 Dermatologic Agents Phase 2
4 Anti-Infective Agents Phase 2
5 Antifungal Agents Phase 2
6 Calcineurin Inhibitors Phase 2
7 Immunosuppressive Agents Phase 2
8 Antirheumatic Agents Phase 2
9 Cyclosporins Phase 2
10
Biotin Approved, Investigational, Nutraceutical Not Applicable 58-85-5 171548
11
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
12 Vitamin B7 Not Applicable
13 Trace Elements Not Applicable
14 Vitamin B Complex Not Applicable
15 Vitamin B9 Not Applicable
16 Vitamins Not Applicable
17 Folate Not Applicable
18 Nutrients Not Applicable
19 Micronutrients 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 BIOtinidase Test In Optic-Neuropathy Completed NCT03268681
5 Biotin Status in Pregnancy Completed NCT00894920 Not Applicable

Search NIH Clinical Center for Biotinidase Deficiency

Cochrane evidence based reviews: biotinidase deficiency

Sources

Genetic Tests for Biotinidase Deficiency

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Genetic tests related to Biotinidase Deficiency:

# Genetic test Affiliating Genes
1 Biotinidase Deficiency 30 BTD
Sources

Anatomical Context for Biotinidase Deficiency

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MalaCards organs/tissues related to Biotinidase Deficiency:

42
Skin, Cerebellum, Spinal Cord, Testes, Eye, Pancreas, Liver
Sources

Publications for Biotinidase Deficiency

About this section

Articles related to Biotinidase Deficiency:

(show top 50) (show all 259)
# Title Authors Year
1
Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population. ( 30616616 )
2019
2
Biotinidase Deficiency: A Treatable Neurological Inborn Error of Metabolism. ( 30905112 )
2019
3
Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil. ( 30912303 )
2019
4
Congenital biotinidase deficiency - MRI findings in two cases. ( 31000952 )
2019
5
Biotinidase deficiency: A treatable cause of opticospinal syndrome in young adults✰. ( 31035122 )
2019
6
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
7
Biotinidase deficiency masquerading as multiple sclerosis? ( 28337933 )
2018
8
Reply to the letter: Biotinidase deficiency masquerading as multiple sclerosis? ( 28337934 )
2018
9
Characterizing the Biotinidase Deficiency in a Child When Considering a Possible Disease Association. ( 28991128 )
2018
10
Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy. ( 29025919 )
2018
11
ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics. ( 29240078 )
2018
12
Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey. ( 29353266 )
2018
13
Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China. ( 29359854 )
2018
14
Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. ( 29728376 )
2018
15
Are we missing patients with biotinidase deficiency in France? ( 29778138 )
2018
16
Single center experience of biotinidase deficiency: 259 patients and six novel mutations. ( 29995633 )
2018
17
Epilepsy in Biotinidase Deficiency Is Distinct from Early Myoclonic Encephalopathy. ( 30001564 )
2018
18
Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders. ( 30551056 )
2018
19
Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease. ( 27207447 )
2017
20
Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. ( 27657684 )
2017
21
Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency. ( 28220409 )
2017
22
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency. ( 28281033 )
2017
23
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. ( 28498829 )
2017
24
Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. ( 28640880 )
2017
25
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
26
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics. ( 28682309 )
2017
27
Neonatal screening for biotinidase deficiency: A 30-year single center experience. ( 28971021 )
2017
28
"Think metabolic" in adults with diagnostic challenges: Biotinidase deficiency as a paradigm disorder. ( 29431165 )
2017
29
Biotinidase deficiency and our champagne legacy. ( 26456103 )
2016
30
Clinical utility gene card for: Biotinidase deficiency-update 2015. ( 26577040 )
2016
31
Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn. ( 26656798 )
2016
32
Forty-eight novel mutations causing biotinidase deficiency. ( 26810761 )
2016
33
Celiac Disease Presenting with Biotinidase Deficiency and Paraplegia. ( 26830281 )
2016
34
First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice. ( 27014582 )
2016
35
Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency. ( 27144235 )
2016
36
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations. ( 27329734 )
2016
37
Comment on: Childhood optic atrophy in biotinidase deficiency. ( 27688290 )
2016
38
A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit. ( 27761288 )
2016
39
Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population. ( 27845546 )
2016
40
Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency. ( 28356871 )
2016
41
Diagnostic Dilemma Of Biotinidase Deficiency: Case Of A Child From Pakistan. ( 28586590 )
2016
42
Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years. ( 25144890 )
2015
43
Mutations in BTD gene causing biotinidase deficiency: a regional report. ( 25423671 )
2015
44
Brainstem and spinal cord lesions associated with skin changes and hearing loss: think of biotinidase deficiency. ( 25556014 )
2015
45
Why screen newborns for profound and partial biotinidase deficiency? ( 25638506 )
2015
46
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. ( 25795614 )
2015
47
Biotinidase deficiency mimicking primary immune deficiencies. ( 25956498 )
2015
48
High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil. ( 25967232 )
2015
49
Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder. ( 26037171 )
2015
50
Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency. ( 26169436 )
2015
Sources

Variations for Biotinidase Deficiency

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

76
# 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 555)
# 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 Uncertain significance rs119103232 GRCh37 Chromosome 3, 15676986: 15676986
9 BTD NM_000060.4(BTD): c.100G> A (p.Gly34Ser) single nucleotide variant Uncertain significance rs119103232 GRCh38 Chromosome 3, 15635479: 15635479
10 BTD NM_001281724.2(BTD): c.1336G> C (p.Asp446His) single nucleotide variant Conflicting interpretations of pathogenicity rs13078881 GRCh37 Chromosome 3, 15686693: 15686693
11 BTD NM_001281724.2(BTD): c.1336G> C (p.Asp446His) single nucleotide variant Conflicting interpretations of pathogenicity 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.1466A> C (p.Asn489Thr) single nucleotide variant Uncertain significance rs104893692 GRCh37 Chromosome 3, 15686829: 15686829
17 BTD NM_000060.4(BTD): c.1466A> C (p.Asn489Thr) single nucleotide variant Uncertain significance rs104893692 GRCh38 Chromosome 3, 15645322: 15645322
18 BTD NM_000060.4(BTD): c.1207T> G (p.Phe403Val) single nucleotide variant Pathogenic/Likely pathogenic rs104893686 GRCh37 Chromosome 3, 15686570: 15686570
19 BTD NM_000060.4(BTD): c.1207T> G (p.Phe403Val) single nucleotide variant Pathogenic/Likely pathogenic rs104893686 GRCh38 Chromosome 3, 15645063: 15645063
20 BTD NM_000060.4(BTD): c.235C> T (p.Arg79Cys) single nucleotide variant Pathogenic rs104893687 GRCh37 Chromosome 3, 15677121: 15677121
21 BTD NM_000060.4(BTD): c.235C> T (p.Arg79Cys) single nucleotide variant Pathogenic rs104893687 GRCh38 Chromosome 3, 15635614: 15635614
22 BTD NM_000060.4(BTD): c.932G> A (p.Ser311Asn) single nucleotide variant Pathogenic rs397514394 GRCh38 Chromosome 3, 15644788: 15644788
23 BTD NM_000060.2(BTD): c.933delT (p.Ser311Argfs) deletion Pathogenic/Likely pathogenic rs397514395 GRCh37 Chromosome 3, 15686296: 15686296
24 BTD NM_000060.2(BTD): c.933delT (p.Ser311Argfs) deletion Pathogenic/Likely pathogenic rs397514395 GRCh38 Chromosome 3, 15644789: 15644789
25 BTD NM_000060.4(BTD): c.934G> A (p.Gly312Ser) single nucleotide variant Uncertain significance rs397514396 GRCh37 Chromosome 3, 15686297: 15686297
26 BTD NM_000060.4(BTD): c.934G> A (p.Gly312Ser) single nucleotide variant Uncertain significance rs397514396 GRCh38 Chromosome 3, 15644790: 15644790
27 BTD NM_000060.4(BTD): c.935G> A (p.Gly312Asp) single nucleotide variant Uncertain significance rs377651057 GRCh37 Chromosome 3, 15686298: 15686298
28 BTD NM_000060.4(BTD): c.935G> A (p.Gly312Asp) single nucleotide variant Uncertain significance rs377651057 GRCh38 Chromosome 3, 15644791: 15644791
29 BTD NM_000060.2(BTD): c.1052delC (p.Thr351Lysfs) deletion Pathogenic rs397514398 GRCh37 Chromosome 3, 15686415: 15686415
30 BTD NM_000060.4(BTD): c.1267T> C (p.Cys423Arg) single nucleotide variant Uncertain significance rs397514412 GRCh37 Chromosome 3, 15686630: 15686630
31 BTD NM_000060.4(BTD): c.1267T> C (p.Cys423Arg) single nucleotide variant Uncertain significance rs397514412 GRCh38 Chromosome 3, 15645123: 15645123
32 BTD NM_000060.4(BTD): c.1268G> C (p.Cys423Ser) single nucleotide variant Pathogenic rs397514413 GRCh37 Chromosome 3, 15686631: 15686631
33 BTD NM_000060.4(BTD): c.1268G> C (p.Cys423Ser) single nucleotide variant Pathogenic rs397514413 GRCh38 Chromosome 3, 15645124: 15645124
34 BTD NM_000060.4(BTD): c.1253G> C (p.Cys418Ser) single nucleotide variant Pathogenic rs397514410 GRCh38 Chromosome 3, 15645109: 15645109
35 BTD NM_000060.4(BTD): c.1001T> A (p.Ile334Asn) single nucleotide variant Pathogenic rs397514433 GRCh38 Chromosome 3, 15644857: 15644857
36 BTD NM_000060.4(BTD): c.1046A> C (p.Asn349Thr) single nucleotide variant Uncertain significance rs200327983 GRCh37 Chromosome 3, 15686409: 15686409
37 BTD NM_000060.4(BTD): c.211C> T (p.Leu71Leu=) single nucleotide variant Benign rs397514342 GRCh38 Chromosome 3, 15635590: 15635590
38 BTD NM_000060.4(BTD): c.234C> T (p.Ser78Ser=) single nucleotide variant Benign rs397514344 GRCh37 Chromosome 3, 15677120: 15677120
39 BTD NM_000060.4(BTD): c.234C> T (p.Ser78Ser=) single nucleotide variant Benign rs397514344 GRCh38 Chromosome 3, 15635613: 15635613
40 BTD NM_000060.4(BTD): c.1157G> A (p.Trp386Ter) single nucleotide variant Pathogenic rs397514401 GRCh37 Chromosome 3, 15686520: 15686520
41 BTD NM_000060.4(BTD): c.1157G> A (p.Trp386Ter) single nucleotide variant Pathogenic rs397514401 GRCh38 Chromosome 3, 15645013: 15645013
42 BTD NM_000060.4(BTD): c.334G> A (p.Glu112Lys) single nucleotide variant Pathogenic rs397514352 GRCh38 Chromosome 3, 15641932: 15641932
43 BTD NM_000060.4(BTD): c.643C> T (p.Leu215Phe) single nucleotide variant Pathogenic rs190386869 GRCh37 Chromosome 3, 15686006: 15686006
44 BTD NM_000060.4(BTD): c.643C> T (p.Leu215Phe) single nucleotide variant Pathogenic rs190386869 GRCh38 Chromosome 3, 15644499: 15644499
45 BTD NM_000060.4(BTD): c.99C> T (p.Cys33Cys=) single nucleotide variant Benign rs201564216 GRCh37 Chromosome 3, 15676985: 15676985
46 BTD NM_000060.4(BTD): c.99C> T (p.Cys33Cys=) single nucleotide variant Benign rs201564216 GRCh38 Chromosome 3, 15635478: 15635478
47 BTD NM_000060.4(BTD): c.133G> A (p.Gly45Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs34885143 GRCh37 Chromosome 3, 15677019: 15677019
48 BTD NM_000060.4(BTD): c.133G> A (p.Gly45Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs34885143 GRCh38 Chromosome 3, 15635512: 15635512
49 BTD NM_000060.4(BTD): c.1271G> C (p.Cys424Ser) single nucleotide variant Pathogenic rs397514335 GRCh37 Chromosome 3, 15686634: 15686634
50 BTD NM_000060.4(BTD): c.1271G> C (p.Cys424Ser) single nucleotide variant Pathogenic rs397514335 GRCh38 Chromosome 3, 15645127: 15645127
Sources

Expression for Biotinidase Deficiency

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Search GEO for disease gene expression data for Biotinidase Deficiency.
Sources

Pathways for Biotinidase Deficiency

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Pathways related to Biotinidase Deficiency according to KEGG:

38
# 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 67
Show member pathways
 13.2 BTD HACL1 HLCS LPL PCCB
2
Metabolism of water-soluble vitamins and cofactors 67
Show member pathways
 11.86 BTD HLCS LPL PCCB
3
Biotin metabolism 38
9.1 BTD HLCS
Sources

GO Terms for Biotinidase Deficiency

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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 8.8 BTD HLCS 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 8.62 HLCS PCCB
Sources

Sources for Biotinidase Deficiency

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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
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