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BTD DEFICIENCY
MCID: BTN003
MIFTS: 61

Biotinidase Deficiency (BTD DEFICIENCY)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory 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 56 12 74 24 52 25 58 73 36 29 13 54 6 43 15 71
Late-Onset Multiple Carboxylase Deficiency 12 24 52 25 58 73
Btd Deficiency 56 12 52 25 58 73
Multiple Carboxylase Deficiency, Juvenile-Onset 56 73 71
Multiple Carboxylase Deficiency, Late-Onset 56 25 73
Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency 52 25
Juvenile-Onset Multiple Carboxylase Deficiency 12 58
Biotin Deficiency 52 71
Carboxylase Deficiency, Multiple, Late-Onset 25
Deficiency of Biotinidase 12
Biotin Deficiency Disease 71
Deficiency, Biotinidase 39
Mcd Juvenile Form 73
Late-Onset Mcd 73
Biot 25

Characteristics:

Orphanet epidemiological data:

58
biotinidase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
age of onset usually 1 week to 2 years


HPO:

31
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 Respiratory diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Rare skin diseases
Inborn errors of metabolism


Sources

Summaries for Biotinidase Deficiency

About this section
NIH Rare Diseases : 52 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 seizures, vomiting and ataxia. 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 Clotrimazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and brain, and related phenotypes are muscular hypotonia and metabolic ketoacidosis

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. Profound biotinidase deficiency, the more severe form of the condition, can cause 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. Affected children also have delayed development. Lifelong treatment can prevent these complications from occurring or improve them if they have already developed. Partial biotinidase deficiency is a milder form of this condition. Without treatment, affected children may experience hypotonia, skin rashes, and hair loss, but these problems may appear only during illness, infection, or other times of stress.

OMIM : 56 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)

KEGG : 36 Biotinidase deficiency is an autosomal recessive metabolic disorder in which the biotinidase is defective and the biotin is not recycled. Patients often exhibit feeding or breathing difficulties, skin rash, alopecia, hypotonia and seizures. Biotin treatment can ameliorate or prevent symptoms.

UniProtKB/Swiss-Prot : 73 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 : 74 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 182)
# Related Disease Score Top Affiliating Genes
1 holocarboxylase synthetase deficiency 32.7 SLC5A6 PNPO PC HLCS BTD
2 biotin deficiency 32.4 SLC5A6 PCCB PC HLCS BTD
3 metabolic acidosis 31.0 PC HLCS BTD
4 multiple carboxylase deficiency 30.7 SUOX SLC5A6 PNPO PCCB PC MOCS1
5 abdominal obesity-metabolic syndrome 1 30.6 PAH LPL BTD
6 inherited metabolic disorder 30.6 PAH MMD LPL
7 phenylketonuria 30.1 POLG PAH BTD
8 organic acidemia 30.0 PCCB MMD HLCS BTD ACADS
9 3-methylglutaconic aciduria, type iii 29.9 POLG PC HIBCH BTD ACADS
10 3-methylcrotonyl-coa carboxylase deficiency 28.9 PCCB MMD HLCS HADH BTD ACADS
11 propionic acidemia 28.6 PCCB PC MMD HLCS HIBCH ACADS
12 maple syrup urine disease 28.5 SUOX PCCB PAH MMD HADH BTD
13 leigh syndrome 28.4 SUOX POLG PCCB HIBCH
14 alopecia 10.7
15 ataxia and polyneuropathy, adult-onset 10.6
16 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.6
17 exanthem 10.6
18 hypotonia 10.6
19 autosomal recessive disease 10.5
20 seizure disorder 10.5
21 visual epilepsy 10.5
22 sensorineural hearing loss 10.4
23 encephalopathy 10.4
24 monocarboxylate transporter 1 deficiency 10.4 PC HLCS
25 thiamine metabolism dysfunction syndrome 2 10.4 SLC5A6 BTD
26 branchiootic syndrome 1 10.4
27 pyridoxamine 5-prime-phosphate oxidase deficiency 10.4 PNPO BTD
28 dermatitis 10.3
29 molybdenum cofactor deficiency, complementation group c 10.3 SUOX MOCS1
30 methylmalonic aciduria, cblb type 10.3 PC HLCS
31 optic nerve disease 10.3
32 fatty liver disease 10.3
33 brain edema 10.3
34 sulfite oxidase deficiency, isolated 10.3 SUOX MOCS1
35 molybdenum cofactor deficiency, complementation group a 10.3 SUOX MOCS1
36 candidiasis 10.3
37 cerebral creatine deficiency syndrome 10.2 SUOX PNPO BTD
38 phosphoserine aminotransferase deficiency 10.2 SUOX PNPO BTD
39 multiple sclerosis 10.2
40 galactosemia i 10.2
41 quadriplegia 10.2
42 epilepsy 10.2
43 lactic acidosis 10.2
44 neuropathy 10.2
45 neuromyelitis optica 10.2
46 spastic paraparesis 10.2
47 hyperinsulinemic hypoglycemia, familial, 6 10.2 PC HADH
48 glycine encephalopathy 10.2 SUOX PNPO BTD
49 encephalopathy, ethylmalonic 10.2 SUOX ACADS
50 carbonic anhydrase va deficiency, hyperammonemia due to 10.2

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:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
2 metabolic ketoacidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005979
3 generalized myoclonic seizure 31 hallmark (90%) HP:0002123
4 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
5 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
6 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
7 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
8 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
9 keratoconjunctivitis 58 31 frequent (33%) Frequent (79-30%) HP:0001096
10 desquamation of skin soon after birth 58 31 frequent (33%) Frequent (79-30%) HP:0007549
11 perioral eczema 58 31 frequent (33%) Frequent (79-30%) HP:0011127
12 hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001276
13 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
14 growth delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001510
15 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
16 apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002104
17 abnormal cerebellum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001317
18 lethargy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001254
19 iris hypopigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007730
20 visual field defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001123
21 coma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001259
22 laryngeal stridor 58 31 occasional (7.5%) Occasional (29-5%) HP:0006511
23 recurrent fungal infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002841
24 hyperventilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002883
25 splenomegaly 31 HP:0001744
26 hepatomegaly 31 HP:0002240
27 sensorineural hearing impairment 31 HP:0000407
28 feeding difficulties in infancy 31 HP:0008872
29 vomiting 31 HP:0002013
30 generalized myoclonic seizures 58 Very frequent (99-80%)
31 skin rash 31 HP:0000988
32 seborrheic dermatitis 31 HP:0001051
33 conjunctivitis 31 HP:0000509
34 hyperammonemia 31 HP:0001987
35 tachypnea 31 HP:0002789
36 diarrhea 31 HP:0002014
37 visual loss 31 HP:0000572
38 generalized hypotonia 31 HP:0001290
39 recurrent skin infections 31 HP:0001581
40 organic aciduria 31 HP:0001992
41 diffuse cerebellar atrophy 31 HP:0100275
42 diffuse cerebral atrophy 31 HP:0002506
43 seizure 31 HP:0001250
44 decreased biotinidase level 31 HP:0410145

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Neurologic Central Nervous System:
seizures
ataxia
lethargy
diffuse cerebellar atrophy
diffuse cerebral atrophy
more
Abdomen Gastrointestinal:
vomiting
feeding difficulties
diarrhea

Skin Nails Hair Hair:
alopecia

Metabolic Features:
organic aciduria
metabolic ketoacidosis

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

Abdomen Liver:
hepatomegaly

Head And Neck Eyes:
optic atrophy
conjunctivitis
vision loss

Skin Nails Hair Skin:
skin rash
seborrheic dermatitis
skin infections

Respiratory:
apnea
tachypnea
breathing problems

Head And Neck Ears:
hearing loss, sensorineural

Clinical features from OMIM:

253260

UMLS symptoms related to Biotinidase Deficiency:


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

GenomeRNAi Phenotypes related to Biotinidase Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.6 HIBCH
2 Decreased viability GR00249-S 9.6 EIF2B4 HADH HECTD4 HLCS MOCS1 PCCB
3 Decreased viability GR00381-A-1 9.6 MOCS1 PCCB
4 Decreased viability GR00386-A-1 9.6 ACADS LPL MOCS1 POLG SLC5A6
5 Decreased viability GR00402-S-2 9.6 ACADS PC
Sources

Drugs & Therapeutics for Biotinidase Deficiency

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
2
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
3 Immunologic Factors Phase 2
4 Anti-Infective Agents Phase 2
5 Cyclosporins Phase 2
6 Immunosuppressive Agents Phase 2
7 Antifungal Agents Phase 2
8 Dermatologic Agents Phase 2
9 Calcineurin Inhibitors Phase 2
10 Antirheumatic Agents Phase 2
11
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
12
Biotin Approved, Investigational, Nutraceutical 58-85-5 171548
13 Trace Elements
14 Vitamins
15 Vitamin B Complex
16 Nutrients
17 Folate
18 Vitamin B7
19 Micronutrients
20 Vitamin B9

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-label, Single-arm, Phase 2 Study of ORL-1B in Patients With Biotinidase Deficiency Completed NCT03269045 Phase 1, Phase 2 ORL-1B
2 A Single Center, Investigator-blinded Study of the Efficacy of Topical Cyclosporine 0.05% Ophthalmic Suspension (RESTASIS®) Under Occlusion Versus Vehicle in the Treatment of Brittle Nail Syndrome Completed NCT01064830 Phase 2 topical cyclosporine ophthalmic suspension 0.05%;vehicle
3 BIOtinidase Test In Optic-Neuropathy Completed NCT03268681
4 Biotin Status in Pregnancy Completed NCT00894920
5 Biotin Deficiency and Restless Legs Syndrome: Evidence for a Causal Relationship From Randomized, Double-Blind, Placebo-Controlled Trial Completed NCT02011191
6 Studies of Disorders With Increased Susceptibility to Fungal Infections Recruiting NCT01222741

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:

40
Skin, Testes, Brain, Cerebellum, Spinal Cord, Liver, Eye
Sources

Publications for Biotinidase Deficiency

About this section

Articles related to Biotinidase Deficiency:

(show top 50) (show all 435)
# Title Authors PMID Year
1
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. 6 56 61 54 24
9654207 1998
2
Profound biotinidase deficiency in two asymptomatic adults. 61 54 6 56 24
9375914 1997
3
Novel mutations cause biotinidase deficiency in Turkish children. 54 6 56 61
10801053 2000
4
Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children. 6 56 61 54
10400129 1999
5
Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency. 61 54 56 6
7550325 1995
6
Hearing loss in biotinidase deficiency: genotype-phenotype correlation. 61 54 56 24
17382128 2007
7
Statistical approaches for the detection of heterozygotes for biotinidase deficiency. 61 54 56 24
1877614 1991
8
Human serum biotinidase. cDNA cloning, sequence, and characterization. 24 6 61
7509806 1994
9
Biotinidase deficiency: a survey of 10 cases. 61 24 56
3196050 1988
10
Biotinidase deficiency: initial clinical features and rapid diagnosis. 24 61 56
4073853 1985
11
Biotinidase deficiency: a novel vitamin recycling defect. 61 56 24
3930841 1985
12
Hearing loss in biotinidase deficiency. 24 61 56
6139700 1983
13
Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation. 61 54 56
11313766 2001
14
Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency. 6 54 61
9705240 1998
15
Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis. 54 61 56
9396567 1997
16
Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene. 6 61 54
9158148 1997
17
Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children. 6 54 61
9099842 1997
18
Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure. 6 61 54
8894703 1996
19
Infantile spasms as the initial symptom of biotinidase deficiency. 61 56 54
8283357 1994
20
Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency. 54 56 61
1729884 1992
21
Comparison of patients with complete and partial biotinidase deficiency: biochemical studies. 56 54 61
2109151 1990
22
Clinical utility gene card for: biotinidase deficiency. 61 6
22378278 2012
23
Clinical issues and frequent questions about biotinidase deficiency. 54 61 24
20129807 2010
24
Profound biotinidase deficiency in a child with predominantly spinal cord disease. 61 54 24
18645204 2008
25
Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases. 61 24 54
16435182 2005
26
Biotinidase deficiency: a treatable leukoencephalopathy. 24 61 54
15328559 2004
27
Outcome in patients with profound biotinidase deficiency: relevance of newborn screening. 54 61 24
15230462 2004
28
Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations. 24 54 61
15060693 2004
29
Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies. 24 61 54
14628140 2003
30
Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency. 54 24 61
11865279 2002
31
Mutations in BTD causing biotinidase deficiency. 56 61
11668630 2001
32
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. 54 61 24
11388594 2001
33
Biotinidase Deficiency 61 6
20301497 2000
34
Delayed-onset profound biotinidase deficiency. 24 61 54
9506660 1998
35
Biotinidase deficiency in Scotland. 56 61
8050627 1994
36
Characterization of seizures associated with biotinidase deficiency. 54 61 24
8327137 1993
37
Ophthalmologic findings in biotinidase deficiency. 24 54 61
8278163 1993
38
Cerebral metabolic change after treatment in biotinidase deficiency. 24 54 61
8412000 1993
39
A biotinidase Km variant causing late onset bilateral optic neuropathy. 61 24 54
1739323 1992
40
Worldwide survey of neonatal screening for biotinidase deficiency. 54 24 61
1779651 1991
41
Neonatal screening for biotinidase deficiency. A pilot study in Scotland. 61 56
2515386 1989
42
Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn. 56 61
2502673 1989
43
Basal ganglia calcifications in a case of biotinidase deficiency. 56 61
3399084 1988
44
Neonatal screening for biotinidase deficiency in north eastern Italy. 56 61
3391228 1988
45
Multiple carboxylase deficiency due to deficiency of biotinidase. 61 56
3783319 1986
46
Neonatal screening for biotinidase deficiency: results of a 1-year pilot study. 56 61
3944695 1986
47
Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program. 61 56
4000223 1985
48
Biotinidase deficiency: presymptomatic treatment. 56 61
4015175 1985
49
Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency. 56 61
3926500 1985
50
Biotinidase deficiency: factors responsible for the increased biotin requirement. 61 56
3930842 1985
Sources

Variations for Biotinidase Deficiency

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ClinVar genetic disease variations for Biotinidase Deficiency:

6 (show top 50) (show all 316) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BTD NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter)SNV Pathogenic 552232 rs760612966 3:15686489-15686489 3:15644982-15644982
2 BTD NM_000060.4(BTD):c.246_254del (p.Leu83_Leu85del)deletion Pathogenic 587750 rs397514346 3:15677132-15677140 3:15635625-15635633
3 BTD NM_001370658.1(BTD):c.261_262TA[3] (p.Val89Ter)short repeat Pathogenic 587708 rs1559596792 3:15683425-15683426 3:15641918-15641919
4 BTD NM_001370658.1(BTD):c.266dup (p.Phe90fs)duplication Pathogenic 587709 rs1559596828 3:15683430-15683431 3:15641923-15641924
5 BTD NM_000060.4(BTD):c.393del (p.Phe131Leufs)deletion Pathogenic 587746 rs397514356 3:15683498-15683498 3:15641991-15641991
6 BTD NM_001370658.1(BTD):c.346del (p.Gln116fs)deletion Pathogenic 587711 rs1404904752 3:15683508-15683508 3:15642001-15642001
7 BTD NM_001370658.1(BTD):c.1419del (p.Tyr474fs)deletion Pathogenic 574460 rs1559600938 3:15686841-15686841 3:15645334-15645334
8 BTD NM_000060.4(BTD):c.490_491del (p.Arg164Glyfs)deletion Pathogenic 587747 rs397514365 3:15685853-15685854 3:15644346-15644347
9 BTD NM_000060.4(BTD):c.544del (p.Ser182Valfs)deletion Pathogenic 587748 rs397514368 3:15685907-15685907 3:15644400-15644400
10 BTD NM_000060.4(BTD):c.594_596del (p.Val199del)deletion Pathogenic 587749 rs397514373 3:15685957-15685959 3:15644450-15644452
11 BTD NM_000060.4(BTD):c.594del (p.Val199Cysfs)deletion Pathogenic 587754 rs397514374 3:15685957-15685957 3:15644450-15644450
12 BTD NM_001370658.1(BTD):c.571del (p.Arg191fs)deletion Pathogenic 587719 rs1559599230 3:15685993-15685993 3:15644486-15644486
13 BTD NM_001370658.1(BTD):c.586T>A (p.Tyr196Asn)SNV Pathogenic 587720 rs1559599267 3:15686009-15686009 3:15644502-15644502
14 BTD NM_001370658.1(BTD):c.633del (p.Phe212fs)deletion Pathogenic 587721 rs1559599378 3:15686055-15686055 3:15644548-15644548
15 BTD NM_001370658.1(BTD):c.635T>C (p.Phe212Ser)SNV Pathogenic 587722 rs768097543 3:15686058-15686058 3:15644551-15644551
16 BTD NM_001370658.1(BTD):c.710T>A (p.Val237Asp)SNV Pathogenic 587723 rs1190721481 3:15686133-15686133 3:15644626-15644626
17 BTD NM_001370658.1(BTD):c.723C>G (p.Tyr241Ter)SNV Pathogenic 587724 rs372687866 3:15686146-15686146 3:15644639-15644639
18 BTD NM_001370658.1(BTD):c.776T>A (p.Leu259Ter)SNV Pathogenic 587726 rs397514390 3:15686199-15686199 3:15644692-15644692
19 BTD NM_001370658.1(BTD):c.796A>G (p.Lys266Glu)SNV Pathogenic 587727 rs1559599682 3:15686219-15686219 3:15644712-15644712
20 BTD NM_000060.4(BTD):c.1049del (p.Ala350Glufs)deletion Pathogenic 587742 rs397514397 3:15686412-15686412 3:15644905-15644905
21 BTD NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs)duplication Pathogenic 587729 rs1004027979 3:15686458-15686459 3:15644951-15644952
22 BTD NM_000060.4(BTD):c.1191_1192del (p.Glu397Aspfs)deletion Pathogenic 587743 rs397514403 3:15686554-15686555 3:15645047-15645048
23 BTD NM_000060.4(BTD):c.1239del (p.Tyr414Ilefs)deletion Pathogenic 587745 rs397514407 3:15686602-15686602 3:15645095-15645095
24 BTD NM_000060.4(BTD):c.1264dup (p.Leu422Profs)duplication Pathogenic 587744 rs397514411 3:15686627-15686627 3:15645120-15645120
25 BTD NM_000060.4(BTD):c.1384del (p.Arg462Glyfs)deletion Pathogenic 587751 rs397514420 3:15686747-15686747 3:15645240-15645240
26 BTD NM_001370658.1(BTD):c.1398del (p.Trp467fs)deletion Pathogenic 587736 rs1559600895 3:15686821-15686821 3:15645314-15645314
27 BTD NM_001370658.1(BTD):c.1466C>G (p.Pro489Arg)SNV Pathogenic 587738 rs1559601041 3:15686889-15686889 3:15645382-15645382
28 BTD NM_001370658.1(BTD):c.1497T>G (p.Tyr499Ter)SNV Pathogenic 587739 rs1559601106 3:15686920-15686920 3:15645413-15645413
29 BTD NM_001370658.1(BTD):c.1568A>T (p.Asp523Val)SNV Pathogenic 587741 rs1050035768 3:15686991-15686991 3:15645484-15645484
30 BTD NM_000060.3:c.*159G>ASNV Pathogenic 641134
31 BTD NG_008019.2:g.5542deldeletion Pathogenic 641018
32 BTD NM_001370658.1(BTD):c.44_45del (p.Cys15fs)deletion Pathogenic 801942 3:15676989-15676990 3:15635482-15635483
33 BTD NM_001370658.1(BTD):c.203del (p.Gln68fs)deletion Pathogenic 801943 3:15677149-15677149 3:15635642-15635642
34 BTD NM_001370658.1(BTD):c.798del (p.Ala267fs)deletion Pathogenic 801947 3:15686219-15686219 3:15644712-15644712
35 BTD NM_001370658.1(BTD):c.1465C>T (p.Pro489Ser)SNV Pathogenic 801948 3:15686888-15686888 3:15645381-15645381
36 BTD NC_000003.12:g.(?_15601831)_(15601914_?)deldeletion Pathogenic 833362 3:15643338-15643421
37 BTD NM_000060.3:c.1085T>ASNV Pathogenic 844380
38 BTD NM_000060.3:c.1410dupduplication Pathogenic 834119
39 BTD NM_000060.3:c.1447G>TSNV Pathogenic 859384
40 BTD NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)indel Pathogenic 1895 rs80338684 3:15676984-15676990 3:15635477-15635483
41 BTD BTD, 15-BP DEL/11-BP INSindel Pathogenic 1896
42 BTD NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)SNV Pathogenic 1897 rs104893688 3:15686958-15686958 3:15645451-15645451
43 BTD NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)SNV Pathogenic 1898 rs80338686 3:15686975-15686975 3:15645468-15645468
44 BTD NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)SNV Pathogenic 1901 rs28934601 3:15686118-15686118 3:15644611-15644611
45 BTD NM_001370658.1(BTD):c.1308A>C (p.Gln436His)SNV Pathogenic 1902 rs80338685 3:15686731-15686731 3:15645224-15645224
46 BTD NM_001370658.1(BTD):c.100G>T (p.Glu34Ter)SNV Pathogenic 242759 rs397514338 3:15677046-15677046 3:15635539-15635539
47 BTD NM_001370658.1(BTD):c.111T>G (p.Tyr37Ter)SNV Pathogenic 24978 rs397514339 3:15677057-15677057 3:15635550-15635550
48 BTD NM_001370658.1(BTD):c.124G>T (p.Val42Leu)SNV Pathogenic 24979 rs397507170 3:15677070-15677070 3:15635563-15635563
49 BTD NM_001370658.1(BTD):c.130G>A (p.Glu44Lys)SNV Pathogenic 24980 rs397514340 3:15677076-15677076 3:15635569-15635569
50 BTD NM_001370658.1(BTD):c.134A>G (p.His45Arg)SNV Pathogenic 24982 rs397514341 3:15677080-15677080 3:15635573-15635573

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

73
# 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

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:

36
# 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:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 13.45 VNN2 SUOX SLC5A6 PNPO PCCB PC
2
Carbon metabolism 36
Show member pathways
 11.88 PCCB PC PAH HIBCH ACADS
3
Metabolism of water-soluble vitamins and cofactors 65
Show member pathways
 11.88 VNN2 SLC5A6 PNPO PCCB PC MOCS1
4
Valine, leucine and isoleucine degradation 36
Show member pathways
 11.63 PCCB HIBCH HADH ACADS
5
Amino Acid metabolism 1
11.61 PC HIBCH HADH
6
Mitochondrial Fatty Acid Beta-Oxidation 65
Show member pathways
 11.43 PCCB HADH ACADS
7
Mitochondrial LC-Fatty Acid Beta-Oxidation 1
Show member pathways
 11.3 LPL HADH ACADS
8
Propanoate metabolism 36
11.03 PCCB HIBCH ACADS
9
Folate biosynthesis 36
Show member pathways
 10.99 PAH MOCS1
10
Vitamin digestion and absorption 36
10.89 SLC5A6 BTD
11
Fatty Acid Biosynthesis (WikiPathways) 1
10.84 PC HADH
12
Defective HLCS causes multiple carboxylase deficiency 65
Show member pathways
 10.54 PCCB PC
13
Biotin metabolism 36
9.85 HLCS BTD
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 mitochondrion GO:0005739 9.56 SUOX POLG PCCB PC HLCS HIBCH
2 mitochondrial matrix GO:0005759 9.17 SUOX PCCB PC HIBCH HADH BTD

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.65 SUOX PNPO PAH HADH ACADS
2 nitrogen compound metabolic process GO:0006807 9.16 VNN2 BTD
3 biotin metabolic process GO:0006768 9.02 SLC5A6 PCCB PC HLCS BTD
4 pantothenate metabolic process GO:0015939 8.96 VNN2 SLC5A6

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

# Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 9.43 PCCB PC HLCS
2 oxidoreductase activity GO:0016491 9.35 SUOX PNPO PAH HADH ACADS
3 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides GO:0016811 9.16 VNN2 BTD
4 biotin binding GO:0009374 8.62 PC HLCS
Sources

Sources for Biotinidase Deficiency

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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