MCID: BTN003
MIFTS: 56

Biotinidase Deficiency

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

Aliases & Classifications for Biotinidase Deficiency

MalaCards integrated aliases for Biotinidase Deficiency:

Name: Biotinidase Deficiency 53 12 72 72 23 49 24 55 71 36 28 13 51 41 14 69
Late-Onset Multiple Carboxylase Deficiency 12 23 49 24 55 71
Btd Deficiency 53 12 49 24 55 71
Multiple Carboxylase Deficiency, Juvenile-Onset 53 71 69
Multiple Carboxylase Deficiency, Late-Onset 53 24 71
Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency 49 24
Juvenile-Onset Multiple Carboxylase Deficiency 12 55
Biotin Deficiency 49 69
Carboxylase Deficiency, Multiple, Late-Onset 24
Deficiency of Biotinidase 12
Biotin Deficiency Disease 69
Mcd Juvenile Form 71
Late-Onset Mcd 71
Biotinidase 13
Biot 24

Characteristics:

Orphanet epidemiological data:

55
biotinidase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
age of onset usually 1 week to 2 years


HPO:

31
biotinidase deficiency:
Inheritance autosomal recessive inheritance


GeneReviews:

23
Penetrance Almost all children with profound biotinidase deficiency become symptomatic or are at risk of becoming symptomatic if not treated...

Classifications:



Summaries for Biotinidase Deficiency

NIH Rare Diseases : 49 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. Last updated: 8/4/2015

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 ataxia, muscle weakness and lethargy. 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 Antifungal Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and cerebellum.

OMIM : 53 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 : 71 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.

Genetics Home Reference : 24 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.

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

GeneReviews: NBK1322

Related Diseases for Biotinidase Deficiency

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 holocarboxylase synthetase deficiency 31.8 BTD HLCS
2 biotin deficiency 31.0 BTD HLCS PCCB
3 multiple carboxylase deficiency 31.0 BTD HLCS MCCC2 PCCB
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
5 neuropathy 10.0
6 encephalopathy 10.0
7 carbohydrate metabolic disorder 10.0 BTD HLCS
8 fatal familial insomnia 10.0
9 multiple sclerosis 10.0
10 neuromyelitis optica 10.0
11 galactosemia 9.9
12 ataxia and polyneuropathy, adult-onset 9.9
13 aging 9.9
14 branchiootic syndrome 1 9.9
15 congenital hypothyroidism 9.9
16 hypothyroidism 9.9
17 cerebritis 9.9
18 propionic acidemia 9.8 HLCS PCCB
19 coffin-siris syndrome 1 9.7
20 pancreas, annular 9.7
21 vater/vacterl association 9.7
22 autism 9.7
23 celiac disease 1 9.7
24 hyperlipoproteinemia, type i 9.7
25 leigh syndrome 9.7
26 phenylketonuria 9.7
27 combined immunodeficiency, x-linked 9.7
28 juvenile myelomonocytic leukemia 9.7
29 leukemia 9.7
30 severe combined immunodeficiency 9.7
31 skin disease 9.7
32 basal ganglia calcification 9.7
33 respiratory failure 9.7
34 optic neuritis 9.7
35 vacterl association 9.7
36 candidiasis 9.7
37 neuritis 9.7
38 epilepsy 9.7
39 vaginitis 9.7
40 spinal cord disease 9.7
41 laryngitis 9.7
42 lactic acidosis 9.7
43 myopathy 9.7
44 paraplegia 9.7
45 neuromyelitis optica spectrum disorder 9.7
46 hypertonia 9.7
47 hypotonia 9.7
48 spasticity 9.7
49 organic acidemia 9.6 BTD HLCS PCCB
50 3-methylglutaconic aciduria, type iii 9.4 BTD EIF2B4

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



Diseases related to Biotinidase Deficiency

Symptoms & Phenotypes for Biotinidase Deficiency

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
ataxia
seizures
lethargy
diffuse cerebral atrophy
diffuse cerebellar atrophy
more
Abdomen Spleen:
splenomegaly

Head And Neck Eyes:
optic atrophy
conjunctivitis
vision loss

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 Gastroin testinal:
vomiting
diarrhea
feeding difficulties

Abdomen Liver:
hepatomegaly

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:

55 31 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0001251
2 muscle weakness 55 31 occasional (7.5%) Occasional (29-5%) HP:0001324
3 lethargy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001254
4 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
5 hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000365
6 global developmental delay 55 31 frequent (33%) Frequent (79-30%) HP:0001263
7 optic atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0000648
8 hypertonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001276
9 generalized myoclonic seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0002123
10 growth delay 55 31 occasional (7.5%) Occasional (29-5%) HP:0001510
11 myopia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000545
12 alopecia 55 31 frequent (33%) Frequent (79-30%) HP:0001596
13 visual field defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001123
14 apnea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002104
15 coma 55 31 occasional (7.5%) Occasional (29-5%) HP:0001259
16 iris hypopigmentation 55 31 occasional (7.5%) Occasional (29-5%) HP:0007730
17 recurrent fungal infections 55 31 occasional (7.5%) Occasional (29-5%) HP:0002841
18 laryngeal stridor 55 31 occasional (7.5%) Occasional (29-5%) HP:0006511
19 metabolic ketoacidosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0005979
20 hyperventilation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002883
21 keratoconjunctivitis 55 31 frequent (33%) Frequent (79-30%) HP:0001096
22 desquamation of skin soon after birth 55 31 frequent (33%) Frequent (79-30%) HP:0007549
23 perioral eczema 55 31 frequent (33%) Frequent (79-30%) HP:0011127
24 seizures 31 HP:0001250
25 vomiting 31 HP:0002013
26 diarrhea 31 HP:0002014
27 splenomegaly 31 HP:0001744
28 hepatomegaly 31 HP:0002240
29 sensorineural hearing impairment 31 HP:0000407
30 feeding difficulties in infancy 31 HP:0008872
31 visual loss 31 HP:0000572
32 seborrheic dermatitis 31 HP:0001051
33 conjunctivitis 31 HP:0000509
34 skin rash 31 HP:0000988
35 hyperammonemia 31 HP:0001987
36 abnormality of the cerebellum 55 Occasional (29-5%)
37 recurrent skin infections 31 HP:0001581
38 tachypnea 31 HP:0002789
39 generalized hypotonia 31 HP:0001290
40 organic aciduria 31 HP:0001992
41 diffuse cerebral atrophy 31 HP:0002506
42 diffuse cerebellar atrophy 31 HP:0100275

UMLS symptoms related to Biotinidase Deficiency:


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

Drugs & Therapeutics for Biotinidase Deficiency

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

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

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
4 Biotin Status in Pregnancy Completed NCT00894920
5 BIOtinidase Test In Optic-Neuropathy Recruiting NCT03268681

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 28 BTD

Anatomical Context for Biotinidase Deficiency

MalaCards organs/tissues related to Biotinidase Deficiency:

38
Skin, Testes, Cerebellum, Brain, Spinal Cord, Eye, Pancreas

Publications for Biotinidase Deficiency

Articles related to Biotinidase Deficiency:

(show top 50) (show all 236)
# Title Authors Year
1
Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China. ( 29359854 )
2018
2
Characterizing the Biotinidase Deficiency in a Child When Considering a Possible Disease Association. ( 28991128 )
2018
3
Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey. ( 29353266 )
2018
4
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
5
Neonatal screening for biotinidase deficiency: A 30-year single center experience. ( 28971021 )
2017
6
ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics. ( 29240078 )
2017
7
Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy. ( 29025919 )
2017
8
Reply to the letter: Biotinidase deficiency masquerading as multiple sclerosis? ( 28337934 )
2017
9
Biotinidase deficiency masquerading as multiple sclerosis? ( 28337933 )
2017
10
"Think metabolic" in adults with diagnostic challenges: Biotinidase deficiency as a paradigm disorder. ( 29431165 )
2017
11
Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. ( 28640880 )
2017
12
Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency. ( 28220409 )
2017
13
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. ( 28498829 )
2017
14
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics. ( 28682309 )
2017
15
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency. ( 28281033 )
2017
16
Celiac Disease Presenting with Biotinidase Deficiency and Paraplegia. ( 26830281 )
2016
17
First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice. ( 27014582 )
2016
18
A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit. ( 27761288 )
2016
19
Comment on: Childhood optic atrophy in biotinidase deficiency. ( 27688290 )
2016
20
Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn. ( 26656798 )
2016
21
Forty-eight novel mutations causing biotinidase deficiency. ( 26810761 )
2016
22
Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population. ( 27845546 )
2016
23
Diagnostic Dilemma Of Biotinidase Deficiency: Case Of A Child From Pakistan. ( 28586590 )
2016
24
Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency. ( 27144235 )
2016
25
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations. ( 27329734 )
2016
26
Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. ( 27657684 )
2016
27
Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease. ( 27207447 )
2016
28
Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency. ( 28356871 )
2016
29
Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report. ( 26221165 )
2015
30
Biotinidase deficiency mimicking primary immune deficiencies. ( 25956498 )
2015
31
Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder. ( 26037171 )
2015
32
High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil. ( 25967232 )
2015
33
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014). ( 26361991 )
2015
34
Clinical utility gene card for: Biotinidase deficiency-update 2015. ( 26577040 )
2015
35
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss. ( 26358973 )
2015
36
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. ( 25795614 )
2015
37
Biotinidase deficiency and our champagne legacy. ( 26456103 )
2015
38
Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency. ( 26169436 )
2015
39
Brainstem and spinal cord lesions associated with skin changes and hearing loss: think of biotinidase deficiency. ( 25556014 )
2015
40
Why screen newborns for profound and partial biotinidase deficiency? ( 25638506 )
2015
41
Mutations in BTD gene causing biotinidase deficiency: a regional report. ( 25423671 )
2015
42
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood. ( 26203071 )
2015
43
Biotinidase deficiency: Novel mutations in Algerian patients. ( 23481307 )
2014
44
Optic neuropathy due to biotinidase deficiency in a 19-year-old man. ( 24525934 )
2014
45
Abnormal cerebrospinal fluid biochemistry in biotinidase deficiency causing diagnostic conundrum. ( 23220796 )
2014
46
Management of anesthesia in biotinidase deficiency. ( 24574621 )
2014
47
Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India. ( 25228601 )
2014
48
Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene. ( 24797656 )
2014
49
Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years. ( 25144890 )
2014
50
Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency. ( 24630269 )
2014

Variations for Biotinidase Deficiency

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

71
# 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 157)
# Gene Variation Type Significance SNP ID Assembly Location
1 BTD NM_000060.4(BTD): c.1157G> A (p.Trp386Ter) single nucleotide variant Pathogenic rs397514401 GRCh37 Chromosome 3, 15686520: 15686520
2 BTD NM_000060.4(BTD): c.1271G> C (p.Cys424Ser) single nucleotide variant Pathogenic rs397514335 GRCh37 Chromosome 3, 15686634: 15686634
3 BTD NM_000060.4(BTD): c.136G> T (p.Glu46Ter) single nucleotide variant Pathogenic rs397514336 GRCh37 Chromosome 3, 15677022: 15677022
4 BTD NM_000060.4(BTD): c.171T> G (p.Tyr57Ter) single nucleotide variant Pathogenic rs397514339 GRCh37 Chromosome 3, 15677057: 15677057
5 BTD NM_000060.4(BTD): c.184G> T (p.Val62Leu) single nucleotide variant Pathogenic rs397507170 GRCh37 Chromosome 3, 15677070: 15677070
6 BTD NM_000060.4(BTD): c.190G> A (p.Glu64Lys) single nucleotide variant Pathogenic rs397514340 GRCh37 Chromosome 3, 15677076: 15677076
7 BTD H65fs insertion Pathogenic
8 BTD NM_000060.4(BTD): c.194A> G (p.His65Arg) single nucleotide variant Pathogenic rs397514341 GRCh37 Chromosome 3, 15677080: 15677080
9 BTD NM_000060.4(BTD): c.245C> T (p.Ala82Val) single nucleotide variant Pathogenic rs397507171 GRCh37 Chromosome 3, 15677131: 15677131
10 BTD NM_000060.4(BTD): c.246_254delCTTGGAGCT (p.Leu83_Leu85del) deletion Pathogenic rs397514346 GRCh37 Chromosome 3, 15677132: 15677140
11 BTD NM_000060.4(BTD): c.248T> C (p.Leu83Ser) single nucleotide variant Pathogenic rs397514347 GRCh37 Chromosome 3, 15677134: 15677134
12 BTD NM_000060.4(BTD): c.262C> T (p.Gln88Ter) single nucleotide variant Pathogenic rs151071780 GRCh37 Chromosome 3, 15677148: 15677148
13 BTD NM_000060.4(BTD): c.278A> G (p.Tyr93Cys) single nucleotide variant Pathogenic rs397514348 GRCh37 Chromosome 3, 15677164: 15677164
14 BTD NM_000060.4(BTD): c.298G> A (p.Ala100Thr) single nucleotide variant Pathogenic rs397514350 GRCh37 Chromosome 3, 15677184: 15677184
15 BTD NM_000060.4(BTD): c.310G> T (p.Asp104Tyr) single nucleotide variant Pathogenic rs397514351 GRCh37 Chromosome 3, 15683415: 15683415
16 BTD NM_000060.4(BTD): c.334G> C (p.Glu112Gln) single nucleotide variant Pathogenic rs397514352 GRCh37 Chromosome 3, 15683439: 15683439
17 BTD NM_000060.4(BTD): c.334G> A (p.Glu112Lys) single nucleotide variant Pathogenic rs397514352 GRCh37 Chromosome 3, 15683439: 15683439
18 BTD NM_000060.4(BTD): c.341G> T (p.Gly114Val) single nucleotide variant Pathogenic rs375712490 GRCh37 Chromosome 3, 15683446: 15683446
19 BTD NM_000060.4(BTD): c.356A> G (p.Asn119Ser) single nucleotide variant Pathogenic rs397514353 GRCh37 Chromosome 3, 15683461: 15683461
20 BTD NM_000060.4(BTD): c.364A> G (p.Arg122Gly) single nucleotide variant Pathogenic rs397514354 GRCh37 Chromosome 3, 15683469: 15683469
21 BTD NM_000060.4(BTD): c.382T> G (p.Phe128Val) single nucleotide variant Pathogenic rs397514355 GRCh37 Chromosome 3, 15683487: 15683487
22 BTD NM_000060.4(BTD): c.393delC (p.Phe131Leufs) deletion Pathogenic rs397514356 GRCh37 Chromosome 3, 15683498: 15683498
23 BTD NM_000060.4(BTD): c.424C> A (p.Pro142Thr) single nucleotide variant Pathogenic/Likely pathogenic rs397514357 GRCh37 Chromosome 3, 15683529: 15683529
24 BTD NM_000060.4(BTD): c.443G> A (p.Arg148His) single nucleotide variant Pathogenic/Likely pathogenic rs367902696 GRCh37 Chromosome 3, 15683548: 15683548
25 BTD NM_000060.4(BTD): c.445T> C (p.Phe149Leu) single nucleotide variant Pathogenic rs397514359 GRCh37 Chromosome 3, 15683550: 15683550
26 BTD NM_000060.4(BTD): c.454A> C (p.Thr152Pro) single nucleotide variant Pathogenic rs374681173 GRCh37 Chromosome 3, 15683559: 15683559
27 BTD NM_000060.4(BTD): c.459G> A (p.Glu153Glu=) single nucleotide variant Pathogenic/Likely pathogenic rs397514360 GRCh37 Chromosome 3, 15683564: 15683564
28 BTD NM_000060.4(BTD): c.466C> T (p.Gln156Ter) single nucleotide variant Pathogenic rs397514362 GRCh37 Chromosome 3, 15685829: 15685829
29 BTD NM_000060.4(BTD): c.469C> T (p.Arg157Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397514363 GRCh37 Chromosome 3, 15685832: 15685832
30 BTD NM_000060.4(BTD): c.485C> T (p.Ala162Val) single nucleotide variant Pathogenic rs397514364 GRCh37 Chromosome 3, 15685848: 15685848
31 BTD NM_000060.4(BTD): c.490_491delAG (p.Arg164Glyfs) deletion Pathogenic rs397514365 GRCh37 Chromosome 3, 15685853: 15685854
32 BTD NM_000060.4(BTD): c.515A> G (p.Asn172Ser) single nucleotide variant Pathogenic rs397514366 GRCh37 Chromosome 3, 15685878: 15685878
33 BTD NM_000060.4(BTD): c.528G> T (p.Lys176Asn) single nucleotide variant Pathogenic/Likely pathogenic rs397514367 GRCh37 Chromosome 3, 15685891: 15685891
34 BTD NM_000060.4(BTD): c.544delA (p.Ser182Valfs) deletion Pathogenic rs397514368 GRCh37 Chromosome 3, 15685907: 15685907
35 BTD NM_000060.4(BTD): c.557G> A (p.Cys186Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs397514369 GRCh37 Chromosome 3, 15685920: 15685920
36 BTD NM_000060.4(BTD): c.583A> G (p.Asn195Asp) single nucleotide variant Pathogenic rs397514370 GRCh37 Chromosome 3, 15685946: 15685946
37 BTD NM_000060.4(BTD): c.584A> G (p.Asn195Ser) single nucleotide variant Pathogenic rs397514371 GRCh37 Chromosome 3, 15685947: 15685947
38 BTD NM_000060.4(BTD): c.587C> G (p.Thr196Arg) single nucleotide variant Pathogenic rs397514372 GRCh37 Chromosome 3, 15685950: 15685950
39 BTD NM_000060.4(BTD): c.594_596delCGT (p.Val199del) deletion Pathogenic rs397514373 GRCh37 Chromosome 3, 15685957: 15685959
40 BTD NM_000060.4(BTD): c.594delC (p.Val199Cysfs) deletion Pathogenic rs397514374 GRCh37 Chromosome 3, 15685957: 15685957
41 BTD NM_000060.4(BTD): c.595G> A (p.Val199Met) single nucleotide variant Pathogenic/Likely pathogenic rs397514375 GRCh37 Chromosome 3, 15685958: 15685958
42 BTD NM_000060.4(BTD): c.605A> T (p.Asn202Ile) single nucleotide variant Pathogenic rs397514376 GRCh37 Chromosome 3, 15685968: 15685968
43 BTD NM_000060.4(BTD): c.631C> T (p.Arg211Cys) single nucleotide variant Pathogenic rs372844636 GRCh37 Chromosome 3, 15685994: 15685994
44 BTD NM_000060.4(BTD): c.643C> T (p.Leu215Phe) single nucleotide variant Pathogenic rs190386869 GRCh37 Chromosome 3, 15686006: 15686006
45 BTD NM_000060.4(BTD): c.652G> C (p.Glu218Gln) single nucleotide variant Pathogenic rs397514378 GRCh37 Chromosome 3, 15686015: 15686015
46 BTD NM_000060.4(BTD): c.654G> C (p.Glu218Asp) single nucleotide variant Pathogenic rs397514379 GRCh37 Chromosome 3, 15686017: 15686017
47 BTD NM_000060.4(BTD): c.682G> T (p.Asp228Tyr) single nucleotide variant Pathogenic rs397514380 GRCh37 Chromosome 3, 15686045: 15686045
48 BTD NM_000060.4(BTD): c.709G> A (p.Ala237Thr) single nucleotide variant Pathogenic rs397514381 GRCh37 Chromosome 3, 15686072: 15686072
49 BTD NM_000060.4(BTD): c.743T> C (p.Ile248Thr) single nucleotide variant Pathogenic/Likely pathogenic rs397514382 GRCh37 Chromosome 3, 15686106: 15686106
50 BTD NM_000060.4(BTD): c.757C> T (p.Pro253Ser) single nucleotide variant Pathogenic rs397514383 GRCh37 Chromosome 3, 15686120: 15686120

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.4 BTD HLCS LPL MCCC2 PCCB
2
Show member pathways
11.63 BTD HLCS LPL MCCC2 PCCB
3
Show member pathways
11.39 MCCC2 PCCB
4
Show member pathways
11.24 MCCC2 PCCB
5
Show member pathways
10.23 MCCC2 PCCB
6 9.43 BTD HLCS

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 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 for Biotinidase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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