BTD DEFICIENCY
MCID: BTN003
MIFTS: 62

Biotinidase Deficiency (BTD DEFICIENCY)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Biotinidase Deficiency

MalaCards integrated aliases for Biotinidase Deficiency:

Name: Biotinidase Deficiency 57 12 74 25 20 43 58 73 36 29 13 54 6 44 15 71
Late-Onset Multiple Carboxylase Deficiency 12 25 20 43 58 73
Btd Deficiency 57 12 20 43 73
Multiple Carboxylase Deficiency, Juvenile-Onset 57 73 71
Multiple Carboxylase Deficiency, Late-Onset 57 43 73
Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency 20 43
Juvenile-Onset Multiple Carboxylase Deficiency 12 58
Biotin Deficiency 20 71
Carboxylase Deficiency, Multiple, Late-Onset 43
Deficiency of Biotinidase 12
Biotin Deficiency Disease 71
Deficiency, Biotinidase 39
Mcd Juvenile Form 73
Late-Onset Mcd 73
Biot 43

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
age of onset usually 1 week to 2 years


HPO:

31
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:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases
Inborn errors of metabolism


Summaries for Biotinidase Deficiency

GARD : 20 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, 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 Folic acid and Biotin have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and eye, and related phenotypes are organic aciduria and metabolic ketoacidosis

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

MedlinePlus Genetics : 43 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® : 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) (Updated 05-Mar-2021)

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

Related Diseases for Biotinidase Deficiency

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

(show top 50) (show all 174)
# Related Disease Score Top Affiliating Genes
1 holocarboxylase synthetase deficiency 31.9 SLC5A6 PNPO PC HLCS BTD
2 biotin deficiency 31.5 SLC5A6 PCCB PC HLCS H2AC18 BTD
3 phenylketonuria 30.3 HADHA BTD ADSL
4 abdominal obesity-metabolic syndrome 1 30.2 PCCB LPL HADHA BTD
5 organic acidemia 30.0 PCCB MMUT MMAA HLCS BTD
6 multiple carboxylase deficiency 29.8 VNN2 SLC5A6 PNPO PCCB PC MOCS1
7 3-methylcrotonyl-coa carboxylase deficiency 28.9 PCCB MMAA HLCS HADHA HADH BTD
8 propionic acidemia 28.3 PCCB PC MMUT MMAA HLCS HIBCH
9 maple syrup urine disease 28.0 SUOX PCCB MMUT MMAA HADHA HADH
10 alopecia 10.6
11 3-methylglutaconic aciduria, type iii 10.6
12 hypotonia 10.6
13 exanthem 10.5
14 inherited metabolic disorder 10.5
15 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
16 ataxia and polyneuropathy, adult-onset 10.5
17 autosomal recessive disease 10.5
18 metabolic acidosis 10.4
19 sensorineural hearing loss 10.4
20 branchiootic syndrome 1 10.3
21 dermatitis 10.3
22 encephalopathy 10.3
23 optic nerve disease 10.3
24 seizure disorder 10.3
25 fatty liver disease 10.3
26 neuromyelitis optica 10.3
27 monocarboxylate transporter 1 deficiency 10.3 PC HLCS
28 pyridoxamine 5-prime-phosphate oxidase deficiency 10.2 PNPO BTD
29 multiple sclerosis 10.2
30 candidiasis 10.2
31 neuropathy 10.2
32 spastic paraparesis 10.2
33 thiamine metabolism dysfunction syndrome 2 10.2 SLC5A6 BTD
34 galactosemia i 10.2
35 quadriplegia 10.2
36 epilepsy 10.2
37 lactic acidosis 10.2
38 spasticity 10.2
39 hyperinsulinemic hypoglycemia, familial, 6 10.2 PC HADH
40 phosphoserine aminotransferase deficiency 10.1 SUOX BTD
41 molybdenum cofactor deficiency, complementation group c 10.1 SUOX MOCS1
42 carbonic anhydrase va deficiency, hyperammonemia due to 10.1
43 congenital hypothyroidism 10.1
44 hypothyroidism 10.1
45 paraplegia 10.1
46 conjunctivitis 10.1
47 seborrheic dermatitis 10.1
48 glycine encephalopathy 10.0 SUOX PNPO BTD
49 3-hydroxyacyl-coa dehydrogenase deficiency 10.0 HADHA HADH
50 pancreas, annular 10.0

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



Diseases related to Biotinidase Deficiency

Symptoms & Phenotypes for Biotinidase Deficiency

Human phenotypes related to Biotinidase Deficiency:

58 31 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 organic aciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001992
2 metabolic ketoacidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005979
3 decreased biotinidase level 31 hallmark (90%) HP:0410145
4 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
5 skin rash 58 31 frequent (33%) Frequent (79-30%) HP:0000988
6 hyperammonemia 58 31 frequent (33%) Frequent (79-30%) HP:0001987
7 brain imaging abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0410263
8 hypotonia 31 frequent (33%) HP:0001252
9 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
10 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
11 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
12 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
13 apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002104
14 conjunctivitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000509
15 lethargy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001254
16 infantile spasms 58 31 occasional (7.5%) Occasional (29-5%) HP:0012469
17 scotoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000575
18 optic neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001138
19 psychomotor retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0025356
20 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
21 limb muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003690
22 spastic paraparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002313
23 eczematoid dermatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000976
24 laryngeal stridor 58 31 occasional (7.5%) Occasional (29-5%) HP:0006511
25 myelopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002196
26 hyperventilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002883
27 recurrent viral infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0004429
28 recurrent candida infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0005401
29 focal motor seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0011153
30 nonprogressive visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0200068
31 bilateral tonic-clonic seizure 31 occasional (7.5%) HP:0002069
32 generalized myoclonic seizure 31 occasional (7.5%) HP:0002123
33 seizures 58 Frequent (79-30%)
34 muscular hypotonia 58 Frequent (79-30%)
35 hearing impairment 58 Occasional (29-5%)
36 global developmental delay 31 HP:0001263
37 splenomegaly 31 HP:0001744
38 hepatomegaly 31 HP:0002240
39 feeding difficulties in infancy 31 HP:0008872
40 vomiting 31 HP:0002013
41 generalized myoclonic seizures 58 Occasional (29-5%)
42 abnormality of the immune system 58 Frequent (79-30%)
43 abnormality of the eye 58 Occasional (29-5%)
44 seborrheic dermatitis 31 HP:0001051
45 abnormality of the nervous system 58 Frequent (79-30%)
46 generalized tonic-clonic seizures 58 Occasional (29-5%)
47 tachypnea 31 HP:0002789
48 decreased biotinidase activity 58 Very frequent (99-80%)
49 diarrhea 31 HP:0002014
50 visual loss 31 HP:0000572

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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:
organic aciduria
metabolic ketoacidosis

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 (Updated 05-Mar-2021)

UMLS symptoms related to Biotinidase Deficiency:


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

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

26 (show all 28)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.98 ADSL HIBCH
2 Decreased viability GR00249-S 9.98 EIF2B4 HADH HLCS MMUT MOCS1 PCCB
3 Decreased viability GR00381-A-1 9.98 MOCS1 PCCB
4 Decreased viability GR00386-A-1 9.98 HADHA LPL MMAA MMUT MOCS1 SLC5A6
5 Decreased viability GR00402-S-2 9.98 MMUT PC
6 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.72 SUOX
7 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.72 SUOX
8 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.72 EIF2B4
9 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.72 HIBCH
10 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.72 SUOX
11 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.72 SUOX
12 Increased shRNA abundance (Z-score > 2) GR00366-A-142 9.72 HIBCH
13 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.72 HIBCH SUOX
14 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.72 SUOX
15 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.72 EIF2B4
16 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.72 SUOX
17 Increased shRNA abundance (Z-score > 2) GR00366-A-171 9.72 SUOX
18 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.72 EIF2B4
19 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.72 EIF2B4 HIBCH
20 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.72 SUOX
21 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.72 SUOX
22 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.72 SUOX
23 Increased shRNA abundance (Z-score > 2) GR00366-A-209 9.72 SUOX
24 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.72 SUOX
25 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.72 SUOX
26 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.72 EIF2B4
27 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.72 H2AC18
28 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.72 H2AC18

MGI Mouse Phenotypes related to Biotinidase Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.17 BTD HADH HADHA HIBCH MMUT PCCB

Drugs & Therapeutics for Biotinidase Deficiency

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
2
Biotin Approved, Investigational, Nutraceutical 58-85-5 171548
3 Micronutrients
4 Trace Elements
5 Vitamin B Complex
6 Vitamin B7
7 Vitamins
8 Folate
9 Vitamin B9
10 Nutrients

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 Biotin Status in Pregnancy Completed NCT00894920
3 BIOtinidase Test In Optic-Neuropathy Completed NCT03268681
4 Biotin Deficiency and Restless Legs Syndrome: Evidence for a Causal Relationship From Randomized, Double-Blind, Placebo-Controlled Trial Completed NCT02011191

Search NIH Clinical Center for Biotinidase Deficiency

Cochrane evidence based reviews: biotinidase deficiency

Genetic Tests for Biotinidase Deficiency

Genetic tests related to Biotinidase Deficiency:

# Genetic test Affiliating Genes
1 Biotinidase Deficiency 29 BTD

Anatomical Context for Biotinidase Deficiency

MalaCards organs/tissues related to Biotinidase Deficiency:

40
Brain, Skin, Eye, Spinal Cord, Liver, Kidney, Pancreas

Publications for Biotinidase Deficiency

Articles related to Biotinidase Deficiency:

(show top 50) (show all 452)
# Title Authors PMID Year
1
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. 54 61 25 57 6
9654207 1998
2
Profound biotinidase deficiency in two asymptomatic adults. 54 6 61 57 25
9375914 1997
3
Novel mutations cause biotinidase deficiency in Turkish children. 57 6 54 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. 57 6 54 61
10400129 1999
5
Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency. 61 54 57 6
7550325 1995
6
Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil. 61 57 6
30912303 2019
7
Hearing loss in biotinidase deficiency: genotype-phenotype correlation. 61 57 54 25
17382128 2007
8
Statistical approaches for the detection of heterozygotes for biotinidase deficiency. 61 54 25 57
1877614 1991
9
Human serum biotinidase. cDNA cloning, sequence, and characterization. 61 6 25
7509806 1994
10
Biotinidase deficiency: a survey of 10 cases. 61 57 25
3196050 1988
11
Biotinidase deficiency: initial clinical features and rapid diagnosis. 61 57 25
4073853 1985
12
Biotinidase deficiency: a novel vitamin recycling defect. 57 61 25
3930841 1985
13
Hearing loss in biotinidase deficiency. 61 25 57
6139700 1983
14
Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation. 61 54 57
11313766 2001
15
Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency. 54 61 6
9705240 1998
16
Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis. 54 61 57
9396567 1997
17
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. 54 6 61
9158148 1997
18
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 61 54
9099842 1997
19
Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure. 54 61 6
8894703 1996
20
Infantile spasms as the initial symptom of biotinidase deficiency. 54 57 61
8283357 1994
21
Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency. 57 61 54
1729884 1992
22
Comparison of patients with complete and partial biotinidase deficiency: biochemical studies. 54 57 61
2109151 1990
23
Clinical issues and frequent questions about biotinidase deficiency. 54 25 61
20129807 2010
24
Profound biotinidase deficiency in a child with predominantly spinal cord disease. 54 25 61
18645204 2008
25
Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases. 25 54 61
16435182 2005
26
Biotinidase deficiency: a treatable leukoencephalopathy. 54 25 61
15328559 2004
27
Outcome in patients with profound biotinidase deficiency: relevance of newborn screening. 54 25 61
15230462 2004
28
Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations. 25 54 61
15060693 2004
29
Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies. 54 25 61
14628140 2003
30
Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency. 54 61 25
11865279 2002
31
Mutations in BTD causing biotinidase deficiency. 61 57
11668630 2001
32
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. 25 54 61
11388594 2001
33
Delayed-onset profound biotinidase deficiency. 61 25 54
9506660 1998
34
Biotinidase deficiency in Scotland. 61 57
8050627 1994
35
Characterization of seizures associated with biotinidase deficiency. 61 25 54
8327137 1993
36
Ophthalmologic findings in biotinidase deficiency. 61 54 25
8278163 1993
37
Cerebral metabolic change after treatment in biotinidase deficiency. 61 54 25
8412000 1993
38
A biotinidase Km variant causing late onset bilateral optic neuropathy. 25 61 54
1739323 1992
39
Worldwide survey of neonatal screening for biotinidase deficiency. 54 25 61
1779651 1991
40
Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn. 61 57
2502673 1989
41
Neonatal screening for biotinidase deficiency. A pilot study in Scotland. 57 61
2515386 1989
42
Basal ganglia calcifications in a case of biotinidase deficiency. 61 57
3399084 1988
43
Neonatal screening for biotinidase deficiency in north eastern Italy. 57 61
3391228 1988
44
Multiple carboxylase deficiency due to deficiency of biotinidase. 57 61
3783319 1986
45
Neonatal screening for biotinidase deficiency: results of a 1-year pilot study. 61 57
3944695 1986
46
Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program. 61 57
4000223 1985
47
Biotinidase deficiency: presymptomatic treatment. 57 61
4015175 1985
48
Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency. 61 57
3926500 1985
49
Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency. 61 57
3930850 1985
50
Biotinidase deficiency: factors responsible for the increased biotin requirement. 61 57
3930842 1985

Variations for Biotinidase Deficiency

ClinVar genetic disease variations for Biotinidase Deficiency:

6 (show top 50) (show all 334)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BTD NM_001370658.1(BTD):c.776T>G (p.Leu259Trp) SNV Pathogenic 25046 rs397514390 3:15686199-15686199 3:15644692-15644692
2 BTD NM_001370658.1(BTD):c.827T>G (p.Val276Gly) SNV Pathogenic 25048 rs397514391 3:15686250-15686250 3:15644743-15644743
3 BTD NM_001370658.1(BTD):c.836C>T (p.Ala279Val) SNV Pathogenic 25049 rs397514392 3:15686259-15686259 3:15644752-15644752
4 BTD NM_001370658.1(BTD):c.869G>A (p.Gly290Glu) SNV Pathogenic 25050 rs397514393 3:15686292-15686292 3:15644785-15644785
5 BTD NM_001370658.1(BTD):c.872G>A (p.Ser291Asn) SNV Pathogenic 25051 rs397514394 3:15686295-15686295 3:15644788-15644788
6 BTD NM_001370658.1(BTD):c.873T>G (p.Ser291Arg) SNV Pathogenic 25053 rs397514386 3:15686296-15686296 3:15644789-15644789
7 BTD NM_001370658.1(BTD):c.989del (p.Ala330fs) Deletion Pathogenic 587742 rs397514397 3:15686412-15686412 3:15644905-15644905
8 BTD NM_000060.2(BTD):c.1052delC (p.Thr351Lysfs) Deletion Pathogenic 25057 rs397514398 3:15686415-15686415 3:15644908-15644908
9 BTD NM_001370658.1(BTD):c.1036T>C (p.Ser346Pro) SNV Pathogenic 25058 rs397514399 3:15686459-15686459 3:15644952-15644952
10 BTD BTD, 15-BP DEL/11-BP INS Indel Pathogenic 1896
11 BTD NM_001370658.1(BTD):c.1097G>A (p.Trp366Ter) SNV Pathogenic 24841 rs397514401 3:15686520-15686520 3:15645013-15645013
12 BTD NM_001370658.1(BTD):c.1189G>T (p.Val397Phe) SNV Pathogenic 25070 rs397514409 3:15686612-15686612 3:15645105-15645105
13 BTD NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser) SNV Pathogenic 25071 rs397514410 3:15686616-15686616 3:15645109-15645109
14 BTD NM_001370658.1(BTD):c.1204dup (p.Leu402fs) Duplication Pathogenic 587744 3:15686627-15686627 3:15645120-15645120
15 BTD NM_001370658.1(BTD):c.1208G>C (p.Cys403Ser) SNV Pathogenic 25074 rs397514413 3:15686631-15686631 3:15645124-15645124
16 BTD NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr) SNV Pathogenic 25075 rs397514335 3:15686634-15686634 3:15645127-15645127
17 BTD NM_001370658.1(BTD):c.1215T>G (p.Tyr405Ter) SNV Pathogenic 25077 rs397514414 3:15686638-15686638 3:15645131-15645131
18 BTD NM_001370658.1(BTD):c.1224C>A (p.Tyr408Ter) SNV Pathogenic 25078 rs35145938 3:15686647-15686647 3:15645140-15645140
19 BTD NM_001370658.1(BTD):c.1253A>G (p.Tyr418Cys) SNV Pathogenic 25079 rs397514415 3:15686676-15686676 3:15645169-15645169
20 BTD NM_001370658.1(BTD):c.1273G>A (p.Gly425Arg) SNV Pathogenic 25081 rs397514417 3:15686696-15686696 3:15645189-15645189
21 BTD NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp) SNV Pathogenic 25084 rs397514419 3:15686715-15686715 3:15645208-15645208
22 BTD NM_001370658.1(BTD):c.1309G>A (p.Val437Met) SNV Pathogenic 25085 rs146600671 3:15686732-15686732 3:15645225-15645225
23 BTD NM_001370658.1(BTD):c.772C>G (p.Leu258Val) SNV Pathogenic 25044 rs397514388 3:15686195-15686195 3:15644688-15644688
24 BTD NM_001370658.1(BTD):c.1154T>C (p.Leu385Pro) SNV Pathogenic 25066 rs397514406 3:15686577-15686577 3:15645070-15645070
25 BTD NM_001370658.1(BTD):c.1179del (p.Tyr394fs) Deletion Pathogenic 587745 3:15686602-15686602 3:15645095-15645095
26 BTD NM_001370658.1(BTD):c.734A>T (p.His245Leu) SNV Pathogenic 25042 rs397514385 3:15686157-15686157 3:15644650-15644650
27 BTD NM_001370658.1(BTD):c.734A>T (p.His245Leu) SNV Pathogenic 25041 rs397514385 3:15686157-15686157 3:15644650-15644650
28 BTD NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr) SNV Pathogenic 25035 rs397514380 3:15686045-15686045 3:15644538-15644538
29 BTD NM_001370658.1(BTD):c.594G>C (p.Glu198Asp) SNV Pathogenic 25034 rs397514379 3:15686017-15686017 3:15644510-15644510
30 BTD NM_001370658.1(BTD):c.592G>C (p.Glu198Gln) SNV Pathogenic 25033 rs397514378 3:15686015-15686015 3:15644508-15644508
31 BTD NM_001370658.1(BTD):c.545A>T (p.Asn182Ile) SNV Pathogenic 25027 rs397514376 3:15685968-15685968 3:15644461-15644461
32 BTD NM_001370658.1(BTD):c.534del (p.Val179fs) Deletion Pathogenic 587754 3:15685957-15685957 3:15644450-15644450
33 BTD NM_001370658.1(BTD):c.534_536del (p.Val179del) Deletion Pathogenic 587749 3:15685957-15685959 3:15644450-15644452
34 BTD NM_001370658.1(BTD):c.527C>G (p.Thr176Arg) SNV Pathogenic 25023 rs397514372 3:15685950-15685950 3:15644443-15644443
35 BTD NM_001370658.1(BTD):c.524A>G (p.Asn175Ser) SNV Pathogenic 25022 rs397514371 3:15685947-15685947 3:15644440-15644440
36 BTD NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) SNV Pathogenic 25028 rs372844636 3:15685994-15685994 3:15644487-15644487
37 BTD NM_001370658.1(BTD):c.499C>T (p.Pro167Ser) SNV Pathogenic 38274 rs397507173 3:15685922-15685922 3:15644415-15644415
38 BTD NM_001370658.1(BTD):c.484del (p.Ser162fs) Deletion Pathogenic 587748 rs397514368 3:15685907-15685907 3:15644400-15644400
39 BTD NM_001370658.1(BTD):c.430_431del (p.Arg144fs) Deletion Pathogenic 587747 3:15685853-15685854 3:15644346-15644347
40 BTD NM_001370658.1(BTD):c.399G>A (p.Glu133=) SNV Pathogenic 25009 rs397514360 3:15683564-15683564 3:15642057-15642057
41 BTD NM_001370658.1(BTD):c.394A>C (p.Thr132Pro) SNV Pathogenic 25008 rs374681173 3:15683559-15683559 3:15642052-15642052
42 BTD NM_001370658.1(BTD):c.385T>C (p.Phe129Leu) SNV Pathogenic 25007 rs397514359 3:15683550-15683550 3:15642043-15642043
43 BTD NM_001370658.1(BTD):c.406C>T (p.Gln136Ter) SNV Pathogenic 25011 rs397514362 3:15685829-15685829 3:15644322-15644322
44 BTD NM_001370658.1(BTD):c.333del (p.Phe111fs) Deletion Pathogenic 587746 3:15683498-15683498 3:15641991-15641991
45 BTD NM_001370658.1(BTD):c.322T>G (p.Phe108Val) SNV Pathogenic 25002 rs397514355 3:15683487-15683487 3:15641980-15641980
46 BTD NM_001370658.1(BTD):c.274G>A (p.Glu92Lys) SNV Pathogenic 24998 rs397514352 3:15683439-15683439 3:15641932-15641932
47 BTD NM_001370658.1(BTD):c.266T>G (p.Val89Gly) SNV Pathogenic 38289 rs397507172 3:15683431-15683431 3:15641924-15641924
48 BTD NM_001370658.1(BTD):c.250G>T (p.Asp84Tyr) SNV Pathogenic 24996 rs397514351 3:15683415-15683415 3:15641908-15641908
49 BTD NM_001370658.1(BTD):c.238G>A (p.Ala80Thr) SNV Pathogenic 24995 rs397514350 3:15677184-15677184 3:15635677-15635677
50 BTD NM_001370658.1(BTD):c.202C>T (p.Gln68Ter) SNV Pathogenic 24992 rs151071780 3:15677148-15677148 3:15635641-15635641

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

Expression for Biotinidase Deficiency

Search GEO for disease gene expression data for Biotinidase Deficiency.

Pathways for Biotinidase Deficiency

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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.51 VNN2 SUOX SLC5A6 PNPO PCCB PC
2
Show member pathways
12.71 PCCB MMUT MMAA LPL HADHA HADH
3
Show member pathways
12.1 PCCB PC MMUT HIBCH HADHA
4
Show member pathways
11.97 PNPO MOCS1 ADSL
5
Show member pathways
11.97 VNN2 SLC5A6 PNPO PCCB PC MOCS1
6
Show member pathways
11.8 PCCB MMUT HIBCH HADHA HADH
7
Show member pathways
11.7 PCCB PC MMUT MMAA
8 11.66 PC MMUT HIBCH HADH
9
Show member pathways
11.41 LPL HADHA HADH
10
Show member pathways
11.37 PCCB MMUT MMAA HADHA HADH
11 11.09 PCCB MMUT HIBCH HADHA
12 11.06 PCCB MMUT
13 10.95 SLC5A6 BTD
14 10.9 PC HADH
15 10.87 MMUT MMAA
16
Show member pathways
10.62 PCCB PC
17
Show member pathways
10.52 HADHA HADH
18
Show member pathways
10.1 MMUT MMAA
19 9.95 HLCS BTD

GO Terms for Biotinidase Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.61 SUOX PCCB PC MMUT MMAA HLCS
2 mitochondrial matrix GO:0005759 9.23 SUOX PCCB PC MMUT MMAA HIBCH

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

# Name GO ID Score Top Affiliating Genes
1 cobalamin metabolic process GO:0009235 9.32 MMUT MMAA
2 nitrogen compound metabolic process GO:0006807 9.26 VNN2 BTD
3 pantothenate metabolic process GO:0015939 9.16 VNN2 SLC5A6
4 short-chain fatty acid catabolic process GO:0019626 9.13 PCCB MMUT MMAA
5 biotin metabolic process GO:0006768 9.02 SLC5A6 PCCB PC HLCS BTD

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

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.54 MOCS1 HADHA ADSL
2 ligase activity GO:0016874 9.5 PCCB PC HLCS
3 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides GO:0016811 9.26 VNN2 BTD
4 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.16 HADHA HADH
5 catalytic activity GO:0003824 9.1 PC MOCS1 MMUT HLCS HADHA ADSL
6 biotin binding GO:0009374 8.96 PC HLCS

Sources for Biotinidase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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