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BTD DEFICIENCY
MCID: BTN003
MIFTS: 55

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 Anti-Infective 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

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 (BTD) is an autosomal recessive metabolic disorder in which biotin is not... 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 70)
# 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 liver disease 10.1
13 3-methylglutaconic aciduria, type iii 10.1
14 congenital hypothyroidism 10.1
15 hypothyroidism 10.1
16 epilepsy 10.1
17 neonatal hypothyroidism 10.1
18 cryptorchidism, unilateral or bilateral 10.0
19 protein-energy malnutrition 10.0
20 dermatitis 10.0
21 coffin-siris syndrome 1 9.9
22 pancreas, annular 9.9
23 vater/vacterl association 9.9
24 autism 9.9
25 celiac disease 1 9.9
26 leigh syndrome 9.9
27 phenylketonuria 9.9
28 adrenoleukodystrophy 9.9
29 juvenile myelomonocytic leukemia 9.9
30 epileptic encephalopathy, early infantile, 3 9.9
31 epileptic encephalopathy, early infantile, 4 9.9
32 leukemia 9.9
33 severe combined immunodeficiency 9.9
34 respiratory failure 9.9
35 optic neuritis 9.9
36 vacterl association 9.9
37 candidiasis 9.9
38 neuritis 9.9
39 early myoclonic encephalopathy 9.9
40 spinal cord disease 9.9
41 lactic acidosis 9.9
42 myopathy 9.9
43 paraplegia 9.9
44 combined t cell and b cell immunodeficiency 9.9
45 auditory neuropathy spectrum disorder 9.9
46 neuromyelitis optica spectrum disorder 9.9
47 hypotonia 9.9
48 ohtahara syndrome 9.9
49 hypertonia 9.9
50 breast cancer 9.8

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 laryngeal stridor 60 33 occasional (7.5%) Occasional (29-5%) HP:0006511
23 hyperventilation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002883
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 Anti-Infective Agents Phase 2
3 Immunosuppressive Agents Phase 2
4 Immunologic Factors Phase 2
5 Cyclosporins Phase 2
6 Antifungal Agents Phase 2
7 Dermatologic Agents Phase 2
8 Antirheumatic Agents Phase 2
9 Calcineurin Inhibitors Phase 2
10
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
11
Biotin Approved, Investigational, Nutraceutical Not Applicable 58-85-5 171548
12 Vitamin B7 Not Applicable
13 Micronutrients Not Applicable
14 Vitamin B9 Not Applicable
15 Folate Not Applicable
16 Vitamins Not Applicable
17 Trace Elements Not Applicable
18 Nutrients Not Applicable
19 Vitamin B Complex 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

About this section

MalaCards organs/tissues related to Biotinidase Deficiency:

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

Publications for Biotinidase Deficiency

About this section

Articles related to Biotinidase Deficiency:

(show top 50) (show all 252)
# 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
Are we missing patients with biotinidase deficiency in France? ( 29778138 )
2018
5
Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey. ( 29353266 )
2018
6
Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: A BabySeq Project case report. ( 29728376 )
2018
7
Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China. ( 29359854 )
2018
8
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
9
Characterizing the Biotinidase Deficiency in a Child When Considering a Possible Disease Association. ( 28991128 )
2018
10
Single center experience of biotinidase deficiency: 259 patients and six novel mutations. ( 29995633 )
2018
11
Epilepsy in Biotinidase Deficiency Is Distinct from Early Myoclonic Encephalopathy. ( 30001564 )
2018
12
Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders. ( 30551056 )
2018
13
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics. ( 28682309 )
2017
14
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
15
Reply to the letter: Biotinidase deficiency masquerading as multiple sclerosis? ( 28337934 )
2017
16
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. ( 28498829 )
2017
17
Neonatal screening for biotinidase deficiency: A 30-year single center experience. ( 28971021 )
2017
18
Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. ( 28640880 )
2017
19
Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy. ( 29025919 )
2017
20
Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency. ( 28220409 )
2017
21
Biotinidase deficiency masquerading as multiple sclerosis? ( 28337933 )
2017
22
ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics. ( 29240078 )
2017
23
"Think metabolic" in adults with diagnostic challenges: Biotinidase deficiency as a paradigm disorder. ( 29431165 )
2017
24
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency. ( 28281033 )
2017
25
Comment on: Childhood optic atrophy in biotinidase deficiency. ( 27688290 )
2016
26
A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit. ( 27761288 )
2016
27
Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population. ( 27845546 )
2016
28
First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice. ( 27014582 )
2016
29
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations. ( 27329734 )
2016
30
Forty-eight novel mutations causing biotinidase deficiency. ( 26810761 )
2016
31
Diagnostic Dilemma Of Biotinidase Deficiency: Case Of A Child From Pakistan. ( 28586590 )
2016
32
Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency. ( 27144235 )
2016
33
Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease. ( 27207447 )
2016
34
Celiac Disease Presenting with Biotinidase Deficiency and Paraplegia. ( 26830281 )
2016
35
Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency. ( 28356871 )
2016
36
Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn. ( 26656798 )
2016
37
Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. ( 27657684 )
2016
38
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014). ( 26361991 )
2015
39
Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report. ( 26221165 )
2015
40
Biotinidase deficiency and our champagne legacy. ( 26456103 )
2015
41
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. ( 25795614 )
2015
42
Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency. ( 26169436 )
2015
43
Clinical utility gene card for: Biotinidase deficiency-update 2015. ( 26577040 )
2015
44
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss. ( 26358973 )
2015
45
Why screen newborns for profound and partial biotinidase deficiency? ( 25638506 )
2015
46
Biotinidase deficiency mimicking primary immune deficiencies. ( 25956498 )
2015
47
Brainstem and spinal cord lesions associated with skin changes and hearing loss: think of biotinidase deficiency. ( 25556014 )
2015
48
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood. ( 26203071 )
2015
49
Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder. ( 26037171 )
2015
50
High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil. ( 25967232 )
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.202_205dup (p.Leu69Hisfs) duplication Pathogenic/Likely pathogenic rs757987368 GRCh37 Chromosome 3, 15677088: 15677091
2 BTD NM_000060.4(BTD): c.202_205dup (p.Leu69Hisfs) duplication Pathogenic/Likely pathogenic rs757987368 GRCh38 Chromosome 3, 15635581: 15635584
3 BTD NM_000060.4(BTD) indel Pathogenic/Likely pathogenic rs672601248 GRCh37 Chromosome 3, 15686590: 15686604
4 BTD NM_000060.4(BTD) indel Pathogenic/Likely pathogenic rs672601248 GRCh38 Chromosome 3, 15645083: 15645097
5 BTD NM_000060.4(BTD): c.399G> A (p.Pro133=) single nucleotide variant Conflicting interpretations of pathogenicity rs181743799 GRCh37 Chromosome 3, 15683504: 15683504
6 BTD NM_000060.4(BTD): c.399G> A (p.Pro133=) single nucleotide variant Conflicting interpretations of pathogenicity rs181743799 GRCh38 Chromosome 3, 15641997: 15641997
7 BTD NM_000060.4(BTD): c.1612C> A (p.Arg538Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs80338686 GRCh38 Chromosome 3, 15645468: 15645468
8 BTD NM_000060.4(BTD): c.1612C> A (p.Arg538Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs80338686 GRCh37 Chromosome 3, 15686975: 15686975
9 BTD NM_000060.4(BTD): c.98_104delGCGGCTGinsTCC (p.Cys33Phefs) indel Pathogenic rs80338684 GRCh37 Chromosome 3, 15676984: 15676990
10 BTD NM_000060.4(BTD): c.98_104delGCGGCTGinsTCC (p.Cys33Phefs) indel Pathogenic rs80338684 GRCh38 Chromosome 3, 15635477: 15635483
11 BTD BTD, 15-BP DEL/11-BP INS indel Pathogenic
12 BTD NM_000060.4(BTD): c.1595C> T (p.Thr532Met) single nucleotide variant Pathogenic rs104893688 GRCh37 Chromosome 3, 15686958: 15686958
13 BTD NM_000060.4(BTD): c.1595C> T (p.Thr532Met) single nucleotide variant Pathogenic rs104893688 GRCh38 Chromosome 3, 15645451: 15645451
14 BTD NM_000060.4(BTD): c.1612C> T (p.Arg538Cys) single nucleotide variant Pathogenic rs80338686 GRCh37 Chromosome 3, 15686975: 15686975
15 BTD NM_000060.4(BTD): c.1612C> T (p.Arg538Cys) single nucleotide variant Pathogenic rs80338686 GRCh38 Chromosome 3, 15645468: 15645468
16 BTD NM_000060.4(BTD): c.100G> A (p.Gly34Ser) single nucleotide variant Uncertain significance rs119103232 GRCh37 Chromosome 3, 15676986: 15676986
17 BTD NM_000060.4(BTD): c.100G> A (p.Gly34Ser) single nucleotide variant Uncertain significance rs119103232 GRCh38 Chromosome 3, 15635479: 15635479
18 BTD NM_001281724.2(BTD): c.1336G> C (p.Asp446His) single nucleotide variant Conflicting interpretations of pathogenicity rs13078881 GRCh37 Chromosome 3, 15686693: 15686693
19 BTD NM_001281724.2(BTD): c.1336G> C (p.Asp446His) single nucleotide variant Conflicting interpretations of pathogenicity rs13078881 GRCh38 Chromosome 3, 15645186: 15645186
20 BTD NM_000060.4(BTD): c.755A> G (p.Asp252Gly) single nucleotide variant Pathogenic rs28934601 GRCh37 Chromosome 3, 15686118: 15686118
21 BTD NM_000060.4(BTD): c.755A> G (p.Asp252Gly) single nucleotide variant Pathogenic rs28934601 GRCh38 Chromosome 3, 15644611: 15644611
22 BTD NM_000060.4(BTD): c.1368A> C (p.Gln456His) single nucleotide variant Pathogenic rs80338685 GRCh37 Chromosome 3, 15686731: 15686731
23 BTD NM_000060.4(BTD): c.1368A> C (p.Gln456His) single nucleotide variant Pathogenic rs80338685 GRCh38 Chromosome 3, 15645224: 15645224
24 BTD NM_000060.4(BTD): c.1466A> C (p.Asn489Thr) single nucleotide variant Uncertain significance rs104893692 GRCh37 Chromosome 3, 15686829: 15686829
25 BTD NM_000060.4(BTD): c.1466A> C (p.Asn489Thr) single nucleotide variant Uncertain significance rs104893692 GRCh38 Chromosome 3, 15645322: 15645322
26 BTD NM_000060.4(BTD): c.1207T> G (p.Phe403Val) single nucleotide variant Pathogenic/Likely pathogenic rs104893686 GRCh37 Chromosome 3, 15686570: 15686570
27 BTD NM_000060.4(BTD): c.1207T> G (p.Phe403Val) single nucleotide variant Pathogenic/Likely pathogenic rs104893686 GRCh38 Chromosome 3, 15645063: 15645063
28 BTD NM_000060.4(BTD): c.235C> T (p.Arg79Cys) single nucleotide variant Pathogenic rs104893687 GRCh37 Chromosome 3, 15677121: 15677121
29 BTD NM_000060.4(BTD): c.235C> T (p.Arg79Cys) single nucleotide variant Pathogenic rs104893687 GRCh38 Chromosome 3, 15635614: 15635614
30 BTD NM_000060.4(BTD): c.234C> T (p.Ser78Ser=) single nucleotide variant Benign rs397514344 GRCh37 Chromosome 3, 15677120: 15677120
31 BTD NM_000060.4(BTD): c.234C> T (p.Ser78Ser=) single nucleotide variant Benign rs397514344 GRCh38 Chromosome 3, 15635613: 15635613
32 BTD NM_000060.4(BTD): c.1361A> C (p.Tyr454Ser) single nucleotide variant no interpretation for the single variant rs397514345 GRCh37 Chromosome 3, 15686724: 15686724
33 BTD NM_000060.4(BTD): c.932G> A (p.Ser311Asn) single nucleotide variant Pathogenic rs397514394 GRCh38 Chromosome 3, 15644788: 15644788
34 BTD NM_000060.4(BTD): c.643C> T (p.Leu215Phe) single nucleotide variant Pathogenic rs190386869 GRCh37 Chromosome 3, 15686006: 15686006
35 BTD NM_000060.4(BTD): c.643C> T (p.Leu215Phe) single nucleotide variant Pathogenic rs190386869 GRCh38 Chromosome 3, 15644499: 15644499
36 BTD NM_000060.4(BTD): c.211C> T (p.Leu71Leu=) single nucleotide variant Benign rs397514342 GRCh37 Chromosome 3, 15677097: 15677097
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.1157G> A (p.Trp386Ter) single nucleotide variant Pathogenic rs397514401 GRCh37 Chromosome 3, 15686520: 15686520
39 BTD NM_000060.4(BTD): c.1157G> A (p.Trp386Ter) single nucleotide variant Pathogenic rs397514401 GRCh38 Chromosome 3, 15645013: 15645013
40 BTD NM_000060.4(BTD): c.1214T> C (p.Leu405Pro) single nucleotide variant Pathogenic rs397514406 GRCh37 Chromosome 3, 15686577: 15686577
41 BTD NM_000060.4(BTD): c.1214T> C (p.Leu405Pro) single nucleotide variant Pathogenic rs397514406 GRCh38 Chromosome 3, 15645070: 15645070
42 BTD NM_000060.4(BTD): c.1333G> A (p.Gly445Arg) single nucleotide variant Pathogenic rs397514417 GRCh37 Chromosome 3, 15686696: 15686696
43 BTD NM_000060.4(BTD): c.1333G> A (p.Gly445Arg) single nucleotide variant Pathogenic rs397514417 GRCh38 Chromosome 3, 15645189: 15645189
44 BTD NM_000060.4(BTD): c.1339C> T (p.His447Tyr) single nucleotide variant Likely pathogenic rs397514418 GRCh37 Chromosome 3, 15686702: 15686702
45 BTD NM_000060.4(BTD): c.1339C> T (p.His447Tyr) single nucleotide variant Likely pathogenic rs397514418 GRCh38 Chromosome 3, 15645195: 15645195
46 BTD NM_000060.4(BTD): c.664G> C (p.Asp222His) single nucleotide variant Pathogenic rs200337373 GRCh38 Chromosome 3, 15644520: 15644520
47 BTD NM_000060.4(BTD): c.1001T> A (p.Ile334Asn) single nucleotide variant Pathogenic rs397514433 GRCh37 Chromosome 3, 15686364: 15686364
48 BTD NM_000060.4(BTD): c.194A> G (p.His65Arg) single nucleotide variant Pathogenic rs397514341 GRCh38 Chromosome 3, 15635573: 15635573
49 BTD NM_000060.4(BTD): c.99C> T (p.Cys33Cys=) single nucleotide variant Benign rs201564216 GRCh37 Chromosome 3, 15676985: 15676985
50 BTD NM_000060.4(BTD): c.99C> T (p.Cys33Cys=) single nucleotide variant Benign rs201564216 GRCh38 Chromosome 3, 15635478: 15635478
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
 13.18 BTD HACL1 HLCS LPL PCCB
2
Metabolism of water-soluble vitamins and cofactors 67
Show member pathways
 11.87 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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