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BTD DEFICIENCY
MCID: BTN003
MIFTS: 57

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 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 Eye 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 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 Calcineurin Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include skin, cerebellum and spinal cord, and related phenotypes are ataxia and muscular hypotonia

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

Genetics Home Reference : 25 Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood.

OMIM : 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.

Wikipedia : 76 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 72)
# Related Disease Score Top Affiliating Genes
1 holocarboxylase synthetase deficiency 32.1 HLCS BTD
2 multiple carboxylase deficiency 31.7 PCCB MCCC2 HLCS BTD
3 biotin deficiency 31.5 PCCB HLCS BTD
4 3-methylglutaconic aciduria, type iii 29.6 EIF2B4 BTD
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
6 fatty liver disease 10.2
7 encephalopathy 10.2
8 multiple sclerosis 10.2
9 neuropathy 10.2
10 neuromyelitis optica 10.1
11 optic nerve disease 10.1
12 fatal familial insomnia 10.1
13 bacterial meningitis 10.1
14 meningitis 10.1
15 liver disease 10.0
16 galactosemia 10.0
17 epilepsy 10.0
18 infantile epileptic encephalopathy 10.0
19 protein-energy malnutrition 10.0
20 dermatitis 10.0
21 amino acid metabolic disorder 10.0 PCCB BTD
22 propionic acidemia 9.9 PCCB HLCS
23 coffin-siris syndrome 1 9.9
24 pancreas, annular 9.9
25 vater/vacterl association 9.9
26 autism 9.9
27 celiac disease 1 9.9
28 leigh syndrome 9.9
29 adrenoleukodystrophy 9.9
30 juvenile myelomonocytic leukemia 9.9
31 epileptic encephalopathy, early infantile, 3 9.9
32 epileptic encephalopathy, early infantile, 4 9.9
33 leukemia 9.9
34 severe combined immunodeficiency 9.9
35 congenital hypothyroidism 9.9
36 respiratory failure 9.9
37 optic neuritis 9.9
38 hypothyroidism 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 neonatal hypothyroidism 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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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

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

Human phenotypes related to Biotinidase Deficiency:

59 32 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
2 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001324
4 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
5 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
6 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
7 hypertonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001276
8 generalized myoclonic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002123
9 growth delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001510
10 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
11 alopecia 59 32 frequent (33%) Frequent (79-30%) HP:0001596
12 visual field defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001123
13 apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002104
14 coma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001259
15 lethargy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001254
16 iris hypopigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007730
17 recurrent fungal infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002841
18 laryngeal stridor 59 32 occasional (7.5%) Occasional (29-5%) HP:0006511
19 metabolic ketoacidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005979
20 hyperventilation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002883
21 keratoconjunctivitis 59 32 frequent (33%) Frequent (79-30%) HP:0001096
22 desquamation of skin soon after birth 59 32 frequent (33%) Frequent (79-30%) HP:0007549
23 perioral eczema 59 32 frequent (33%) Frequent (79-30%) HP:0011127
24 seizures 32 HP:0001250
25 splenomegaly 32 HP:0001744
26 hepatomegaly 32 HP:0002240
27 sensorineural hearing impairment 32 HP:0000407
28 feeding difficulties in infancy 32 HP:0008872
29 vomiting 32 HP:0002013
30 visual loss 32 HP:0000572
31 seborrheic dermatitis 32 HP:0001051
32 diarrhea 32 HP:0002014
33 conjunctivitis 32 HP:0000509
34 skin rash 32 HP:0000988
35 hyperammonemia 32 HP:0001987
36 abnormality of the cerebellum 59 Occasional (29-5%)
37 generalized hypotonia 32 HP:0001290
38 recurrent skin infections 32 HP:0001581
39 tachypnea 32 HP:0002789
40 diffuse cerebellar atrophy 32 HP:0100275
41 organic aciduria 32 HP:0001992
42 diffuse cerebral atrophy 32 HP:0002506
43 abnormal cerebellum morphology 32 occasional (7.5%) HP:0001317
44 decreased biotinidase activity 32 HP:0410145

UMLS symptoms related to Biotinidase Deficiency:


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

Drugs & Therapeutics for Biotinidase Deficiency

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
2 Calcineurin Inhibitors Phase 2
3 Anti-Infective Agents Phase 2
4 Cyclosporins Phase 2
5 Immunologic Factors Phase 2
6 Antifungal Agents Phase 2
7 Dermatologic Agents Phase 2
8 Antirheumatic Agents Phase 2
9 Immunosuppressive Agents 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 B9 Not Applicable
13 Vitamins Not Applicable
14 Micronutrients Not Applicable
15 Trace Elements Not Applicable
16 Folate Not Applicable
17 Vitamin B7 Not Applicable
18 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 29 BTD
Sources

Anatomical Context for Biotinidase Deficiency

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MalaCards organs/tissues related to Biotinidase Deficiency:

41
Skin, Cerebellum, Spinal Cord, Eye, Pancreas, Liver, Thyroid
Sources

Publications for Biotinidase Deficiency

About this section

Articles related to Biotinidase Deficiency:

(show top 50) (show all 248)
# 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
Single center experience of biotinidase deficiency: 259 patients and six novel mutations. ( 29995633 )
2018
8
Epilepsy in Biotinidase Deficiency Is Distinct from Early Myoclonic Encephalopathy. ( 30001564 )
2018
9
Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders. ( 30551056 )
2018
10
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics. ( 28682309 )
2017
11
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
12
Reply to the letter: Biotinidase deficiency masquerading as multiple sclerosis? ( 28337934 )
2017
13
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. ( 28498829 )
2017
14
Neonatal screening for biotinidase deficiency: A 30-year single center experience. ( 28971021 )
2017
15
Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. ( 28640880 )
2017
16
Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy. ( 29025919 )
2017
17
Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency. ( 28220409 )
2017
18
Biotinidase deficiency masquerading as multiple sclerosis? ( 28337933 )
2017
19
ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics. ( 29240078 )
2017
20
"Think metabolic" in adults with diagnostic challenges: Biotinidase deficiency as a paradigm disorder. ( 29431165 )
2017
21
Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. ( 27657684 )
2017
22
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency. ( 28281033 )
2017
23
Comment on: Childhood optic atrophy in biotinidase deficiency. ( 27688290 )
2016
24
A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit. ( 27761288 )
2016
25
Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population. ( 27845546 )
2016
26
First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice. ( 27014582 )
2016
27
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations. ( 27329734 )
2016
28
Forty-eight novel mutations causing biotinidase deficiency. ( 26810761 )
2016
29
Diagnostic Dilemma Of Biotinidase Deficiency: Case Of A Child From Pakistan. ( 28586590 )
2016
30
Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency. ( 27144235 )
2016
31
Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease. ( 27207447 )
2016
32
Celiac Disease Presenting with Biotinidase Deficiency and Paraplegia. ( 26830281 )
2016
33
Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency. ( 28356871 )
2016
34
Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn. ( 26656798 )
2016
35
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014). ( 26361991 )
2015
36
Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report. ( 26221165 )
2015
37
Biotinidase deficiency and our champagne legacy. ( 26456103 )
2015
38
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. ( 25795614 )
2015
39
Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency. ( 26169436 )
2015
40
Clinical utility gene card for: Biotinidase deficiency-update 2015. ( 26577040 )
2015
41
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss. ( 26358973 )
2015
42
Why screen newborns for profound and partial biotinidase deficiency? ( 25638506 )
2015
43
Biotinidase deficiency mimicking primary immune deficiencies. ( 25956498 )
2015
44
Brainstem and spinal cord lesions associated with skin changes and hearing loss: think of biotinidase deficiency. ( 25556014 )
2015
45
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood. ( 26203071 )
2015
46
Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder. ( 26037171 )
2015
47
High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil. ( 25967232 )
2015
48
Mutations in BTD gene causing biotinidase deficiency: a regional report. ( 25423671 )
2015
49
First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children. ( 28649532 )
2015
50
Outcomes of oral biotin treatment in patients with biotinidase deficiency - Twenty years follow-up. ( 28649539 )
2015
Sources

Variations for Biotinidase Deficiency

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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 510)
# 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.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 rs104893686 GRCh37 Chromosome 3, 15686570: 15686570
19 BTD NM_000060.4(BTD): c.1207T> G (p.Phe403Val) single nucleotide variant 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.1157G> A (p.Trp386Ter) single nucleotide variant Pathogenic rs397514401 GRCh37 Chromosome 3, 15686520: 15686520
23 BTD NM_000060.4(BTD): c.1157G> A (p.Trp386Ter) single nucleotide variant Pathogenic rs397514401 GRCh38 Chromosome 3, 15645013: 15645013
24 BTD NM_000060.4(BTD): c.99C> T (p.Cys33Cys=) single nucleotide variant Benign rs201564216 GRCh37 Chromosome 3, 15676985: 15676985
25 BTD NM_000060.4(BTD): c.99C> T (p.Cys33Cys=) single nucleotide variant Benign rs201564216 GRCh38 Chromosome 3, 15635478: 15635478
26 BTD NM_000060.4(BTD): c.133G> A (p.Gly45Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs34885143 GRCh37 Chromosome 3, 15677019: 15677019
27 BTD NM_000060.4(BTD): c.133G> A (p.Gly45Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs34885143 GRCh38 Chromosome 3, 15635512: 15635512
28 BTD NM_000060.4(BTD): c.1271G> C (p.Cys424Ser) single nucleotide variant Pathogenic rs397514335 GRCh37 Chromosome 3, 15686634: 15686634
29 BTD NM_000060.4(BTD): c.1271G> C (p.Cys424Ser) single nucleotide variant Pathogenic rs397514335 GRCh38 Chromosome 3, 15645127: 15645127
30 BTD NM_000060.4(BTD): c.136G> T (p.Glu46Ter) single nucleotide variant Pathogenic rs397514336 GRCh37 Chromosome 3, 15677022: 15677022
31 BTD NM_000060.4(BTD): c.136G> T (p.Glu46Ter) single nucleotide variant Pathogenic rs397514336 GRCh38 Chromosome 3, 15635515: 15635515
32 BTD NM_000060.4(BTD): c.159C> A (p.His53Gln) single nucleotide variant no interpretation for the single variant rs397514337 GRCh37 Chromosome 3, 15677045: 15677045
33 BTD NM_000060.4(BTD): c.159C> A (p.His53Gln) single nucleotide variant no interpretation for the single variant rs397514337 GRCh38 Chromosome 3, 15635538: 15635538
34 BTD NM_000060.4(BTD): c.160G> T (p.Glu54Ter) single nucleotide variant no interpretation for the single variant rs397514338 GRCh37 Chromosome 3, 15677046: 15677046
35 BTD NM_000060.4(BTD): c.160G> T (p.Glu54Ter) single nucleotide variant no interpretation for the single variant rs397514338 GRCh38 Chromosome 3, 15635539: 15635539
36 BTD NM_000060.4(BTD): c.171T> G (p.Tyr57Ter) single nucleotide variant Pathogenic rs397514339 GRCh37 Chromosome 3, 15677057: 15677057
37 BTD NM_000060.4(BTD): c.171T> G (p.Tyr57Ter) single nucleotide variant Pathogenic rs397514339 GRCh38 Chromosome 3, 15635550: 15635550
38 BTD NM_000060.4(BTD): c.184G> T (p.Val62Leu) single nucleotide variant Pathogenic rs397507170 GRCh37 Chromosome 3, 15677070: 15677070
39 BTD NM_000060.4(BTD): c.184G> T (p.Val62Leu) single nucleotide variant Pathogenic rs397507170 GRCh38 Chromosome 3, 15635563: 15635563
40 BTD NM_000060.4(BTD): c.190G> A (p.Glu64Lys) single nucleotide variant Pathogenic rs397514340 GRCh37 Chromosome 3, 15677076: 15677076
41 BTD NM_000060.4(BTD): c.190G> A (p.Glu64Lys) single nucleotide variant Pathogenic rs397514340 GRCh38 Chromosome 3, 15635569: 15635569
42 BTD H65fs insertion Pathogenic
43 BTD NM_000060.4(BTD): c.194A> G (p.His65Arg) single nucleotide variant Pathogenic rs397514341 GRCh37 Chromosome 3, 15677080: 15677080
44 BTD NM_000060.4(BTD): c.194A> G (p.His65Arg) single nucleotide variant Pathogenic rs397514341 GRCh38 Chromosome 3, 15635573: 15635573
45 BTD NM_000060.4(BTD): c.211C> T (p.Leu71Leu=) single nucleotide variant Benign rs397514342 GRCh37 Chromosome 3, 15677097: 15677097
46 BTD NM_000060.4(BTD): c.211C> T (p.Leu71Leu=) single nucleotide variant Benign rs397514342 GRCh38 Chromosome 3, 15635590: 15635590
47 BTD NM_000060.4(BTD): c.234C> T (p.Ser78Ser=) single nucleotide variant Benign rs397514344 GRCh37 Chromosome 3, 15677120: 15677120
48 BTD NM_000060.4(BTD): c.234C> T (p.Ser78Ser=) single nucleotide variant Benign rs397514344 GRCh38 Chromosome 3, 15635613: 15635613
49 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
50 BTD NM_000060.4(BTD): c.1361A> C (p.Tyr454Ser) single nucleotide variant no interpretation for the single variant rs397514345 GRCh38 Chromosome 3, 15645217: 15645217
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:

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

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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

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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
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