BTD DEFICIENCY
MCID: BTN003
MIFTS: 57

Biotinidase Deficiency (BTD DEFICIENCY) malady

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

Aliases & Classifications for Biotinidase Deficiency

Aliases & Descriptions for Biotinidase Deficiency:

Name: Biotinidase Deficiency 54 12 71 23 50 24 25 56 66 13 52 42 14 69
Late-Onset Multiple Carboxylase Deficiency 12 23 50 24 25 56 66
Btd Deficiency 12 50 25 56 66
Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency 50 24 25
Multiple Carboxylase Deficiency, Juvenile-Onset 66 69
Juvenile-Onset Multiple Carboxylase Deficiency 12 56
Multiple Carboxylase Deficiency, Late-Onset 25 66
Deficiency of Biotinidase 12 29
Biotin Deficiency 50 69
Biotinidase Deficiency Multiple Carboxylase Deficiency, Late-Onset 54
Carboxylase Deficiency, Multiple, Late-Onset 25
Biotin Deficiency Disease 69
Mcd Juvenile Form 66
Late-Onset Mcd 66
Biotinidase 13
Biot 25

Characteristics:

Orphanet epidemiological data:

56
biotinidase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

GeneReviews:

23
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:



External Ids:

OMIM 54 253260
Disease Ontology 12 DOID:856
ICD10 33 D81.810
MeSH 42 D028921
NCIt 47 C84598
SNOMED-CT 64 124513002 8808004
Orphanet 56 ORPHA79241
ICD10 via Orphanet 34 E53.8
MESH via Orphanet 43 D028921
UMLS via Orphanet 70 C0220754
UMLS 69 C0220754

Summaries for Biotinidase Deficiency

NIH Rare Diseases : 50 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 Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Metabolism of water-soluble vitamins and cofactors. The drugs Cyclosporine and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, cerebellum and brain.

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 : 54 Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder characterized primarily by cutaneous... (253260) more...

UniProtKB/Swiss-Prot : 66 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 : 71 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 all 50)
id Related Disease Score Top Affiliating Genes
1 holocarboxylase synthetase deficiency 11.1
2 biotin deficiency 10.9
3 anuria 10.1 BTD HLCS
4 acute insulin response 10.1 ACADM BTD
5 midface dysplasia 10.0 BTD HLCS
6 chondrocalcinosis with early-onset osteoarthritis 10.0 BTD LPL
7 obesity, morbid, due to leptin receptor deficiency 10.0 ACADM BTD
8 borderline glaucoma 10.0 ACADM PCCB
9 leopard syndrome 1 10.0 ACADM BTD
10 encephalopathy 10.0
11 first-degree atrioventricular block 9.9 BTD HLCS PCCB
12 atrial fibrillation, familial, 4 9.9 ACADM BTD HLCS
13 neuropathy 9.9
14 neuromyelitis optica 9.9
15 retinitis pigmentosa 4, autosomal dominant or recessive 9.9 ACADM HLCS PCCB
16 congenital hypothyroidism 9.8
17 multiple carboxylase deficiency 9.8
18 ataxia 9.8
19 hypothyroidism 9.8
20 galactosemia 9.8
21 cerebritis 9.8
22 cataract 20, multiple types 9.8 ACADM LPL
23 gum cancer 9.7 ACADM BTD HLCS PCCB
24 pain disorder 9.7 ACADM BTD HLCS PCCB
25 skin disease 9.7
26 paraplegia 9.7
27 basal ganglia calcification 9.7
28 auditory neuropathy 9.7
29 respiratory failure 9.7
30 neuromyelitis optica spectrum disorder 9.7
31 optic neuritis 9.7
32 leigh syndrome 9.7
33 celiac disease 9.7
34 candidiasis 9.7
35 hypertonia 9.7
36 coffin-siris syndrome 9.7
37 neuritis 9.7
38 hypotonia 9.7
39 epilepsy 9.7
40 spasticity 9.7
41 phenylketonuria 9.7
42 vaginitis 9.7
43 spinal cord disease 9.7
44 lipoprotein lipase deficiency 9.7
45 leukemia 9.7
46 laryngitis 9.7
47 lactic acidosis 9.7
48 severe combined immunodeficiency 9.7
49 myopathy 9.7
50 muscular dystrophy, limb-girdle, type ic 9.2 ACADM BTD EIF2B4 HLCS LPL PCCB

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



Diseases related to Biotinidase Deficiency

Symptoms & Phenotypes for Biotinidase Deficiency

Symptoms by clinical synopsis from OMIM:

253260

Clinical features from OMIM:

253260

Human phenotypes related to Biotinidase Deficiency:

56 32 (show all 40)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Frequent (79-30%) HP:0001251
2 muscle weakness 56 32 Occasional (29-5%) HP:0001324
3 lethargy 56 32 Occasional (29-5%) HP:0001254
4 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
5 hearing impairment 56 32 Frequent (79-30%) HP:0000365
6 global developmental delay 56 32 Frequent (79-30%) HP:0001263
7 optic atrophy 56 32 Frequent (79-30%) HP:0000648
8 hypertonia 56 32 Occasional (29-5%) HP:0001276
9 generalized myoclonic seizures 56 32 Very frequent (99-80%) HP:0002123
10 growth delay 56 32 Occasional (29-5%) HP:0001510
11 visual field defect 56 32 Occasional (29-5%) HP:0001123
12 apnea 56 32 Occasional (29-5%) HP:0002104
13 myopia 56 32 Occasional (29-5%) HP:0000545
14 coma 56 32 Occasional (29-5%) HP:0001259
15 alopecia 56 32 Frequent (79-30%) HP:0001596
16 iris hypopigmentation 56 32 Occasional (29-5%) HP:0007730
17 recurrent fungal infections 56 32 Occasional (29-5%) HP:0002841
18 laryngeal stridor 56 32 Occasional (29-5%) HP:0006511
19 metabolic ketoacidosis 56 32 Very frequent (99-80%) HP:0005979
20 keratoconjunctivitis 56 32 Frequent (79-30%) HP:0001096
21 hyperventilation 56 32 Occasional (29-5%) HP:0002883
22 perioral eczema 56 32 Frequent (79-30%) HP:0011127
23 seizures 32 HP:0001250
24 vomiting 32 HP:0002013
25 diarrhea 32 HP:0002014
26 splenomegaly 32 HP:0001744
27 hepatomegaly 32 HP:0002240
28 sensorineural hearing impairment 32 HP:0000407
29 feeding difficulties in infancy 32 HP:0008872
30 visual loss 32 HP:0000572
31 seborrheic dermatitis 32 HP:0001051
32 conjunctivitis 32 HP:0000509
33 skin rash 32 HP:0000988
34 hyperammonemia 32 HP:0001987
35 abnormality of the cerebellum 56 Occasional (29-5%)
36 recurrent skin infections 32 HP:0001581
37 tachypnea 32 HP:0002789
38 organic aciduria 32 HP:0001992
39 diffuse cerebral atrophy 32 HP:0002506
40 diffuse cerebellar atrophy 32 HP:0100275

UMLS symptoms related to Biotinidase Deficiency:


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

Drugs & Therapeutics for Biotinidase Deficiency

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

(show all 17)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
2
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
3 Antifungal Agents Phase 2
4 Anti-Infective Agents Phase 2
5 Antirheumatic Agents Phase 2
6 Calcineurin Inhibitors Phase 2
7 Dermatologic Agents Phase 2
8 Immunosuppressive Agents Phase 2
9
Biotin Approved, 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:


id Name Status NCT ID Phase
1 Topical Cyclosporine Suspension for the Treatment of Brittle Nails Completed NCT01064830 Phase 2
2 Biotin Deficiency and Restless Legs Syndrome Completed NCT02011191
3 Biotin Status in Pregnancy Completed NCT00894920

Search NIH Clinical Center for Biotinidase Deficiency

Cochrane evidence based reviews: biotinidase deficiency

Genetic Tests for Biotinidase Deficiency

Genetic tests related to Biotinidase Deficiency:

id Genetic test Affiliating Genes
1 Biotinidase Deficiency 29 24 BTD

Anatomical Context for Biotinidase Deficiency

MalaCards organs/tissues related to Biotinidase Deficiency:

39
Skin, Cerebellum, Brain, Spinal Cord, Eye, Pancreas

Publications for Biotinidase Deficiency

Articles related to Biotinidase Deficiency:

(show top 50) (show all 225)
id Title Authors Year
1
Reply to the letter: Biotinidase deficiency masquerading as multiple sclerosis? ( 28337934 )
2017
2
Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency. ( 28220409 )
2017
3
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. ( 28498829 )
2017
4
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency. ( 28281033 )
2017
5
Biotinidase deficiency masquerading as multiple sclerosis? ( 28337933 )
2017
6
Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency. ( 28356871 )
2016
7
Forty-eight novel mutations causing biotinidase deficiency. ( 26810761 )
2016
8
First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice. ( 27014582 )
2016
9
Celiac Disease Presenting with Biotinidase Deficiency and Paraplegia. ( 26830281 )
2016
10
Comment on: Childhood optic atrophy in biotinidase deficiency. ( 27688290 )
2016
11
Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease. ( 27207447 )
2016
12
Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. ( 27657684 )
2016
13
Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population. ( 27845546 )
2016
14
A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit. ( 27761288 )
2016
15
Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn. ( 26656798 )
2016
16
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations. ( 27329734 )
2016
17
Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency. ( 27144235 )
2016
18
Biotinidase deficiency and our champagne legacy. ( 26456103 )
2015
19
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014). ( 26361991 )
2015
20
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. ( 25795614 )
2015
21
High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil. ( 25967232 )
2015
22
Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency. ( 26169436 )
2015
23
Brainstem and spinal cord lesions associated with skin changes and hearing loss: think of biotinidase deficiency. ( 25556014 )
2015
24
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood. ( 26203071 )
2015
25
Why screen newborns for profound and partial biotinidase deficiency? ( 25638506 )
2015
26
Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report. ( 26221165 )
2015
27
Mutations in BTD gene causing biotinidase deficiency: a regional report. ( 25423671 )
2015
28
Biotinidase deficiency mimicking primary immune deficiencies. ( 25956498 )
2015
29
Clinical utility gene card for: Biotinidase deficiency-update 2015. ( 26577040 )
2015
30
Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder. ( 26037171 )
2015
31
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss. ( 26358973 )
2015
32
Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency. ( 24630269 )
2014
33
Optic neuropathy due to biotinidase deficiency in a 19-year-old man. ( 24525934 )
2014
34
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. ( 25174816 )
2014
35
Management of anesthesia in biotinidase deficiency. ( 24574621 )
2014
36
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
37
Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years. ( 25144890 )
2014
38
Biotinidase deficiency: Novel mutations in Algerian patients. ( 23481307 )
2014
39
Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India. ( 25228601 )
2014
40
Abnormal cerebrospinal fluid biochemistry in biotinidase deficiency causing diagnostic conundrum. ( 23220796 )
2014
41
Biotinidase deficiency: an atypical presentation. ( 24066991 )
2013
42
Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns. ( 24036022 )
2013
43
High incidence of partial biotinidase deficiency cases in newborns of Greek origin. ( 23644139 )
2013
44
Hair-shaft abnormality in a 7-year-old girl. Trichorrhexis nodosa dueto biotinidase deficiency. ( 23552716 )
2013
45
Biotinidase deficiency in childhood. ( 24005734 )
2013
46
Biotinidase deficiency: a reversible neurometabolic disorder (an Iranian pediatric case series). ( 24665318 )
2013
47
Diagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan. ( 24169397 )
2013
48
Optic neuritis in a child with biotinidase deficiency: case report and literature review. ( 22457589 )
2012
49
Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have". ( 22241090 )
2012
50
VACTERL association: a new case with biotinidase deficiency and annular pancreas. ( 22010814 )
2012

Variations for Biotinidase Deficiency

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

66
id 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 159)
id 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 BTD, 15-BP DEL/11-BP INS indel Pathogenic
3 BTD NM_000060.4(BTD): c.1595C> T (p.Thr532Met) single nucleotide variant Pathogenic rs104893688 GRCh37 Chromosome 3, 15686958: 15686958
4 BTD NM_000060.4(BTD): c.1612C> T (p.Arg538Cys) single nucleotide variant Pathogenic rs80338686 GRCh37 Chromosome 3, 15686975: 15686975
5 BTD NM_000060.4(BTD): c.100G> A (p.Gly34Ser) single nucleotide variant Pathogenic rs119103232 GRCh37 Chromosome 3, 15676986: 15676986
6 BTD NM_000060.4(BTD): c.1330G> C (p.Asp444His) single nucleotide variant Pathogenic rs13078881 GRCh37 Chromosome 3, 15686693: 15686693
7 BTD NM_000060.4(BTD): c.755A> G (p.Asp252Gly) single nucleotide variant Pathogenic rs28934601 GRCh37 Chromosome 3, 15686118: 15686118
8 BTD NM_000060.4(BTD): c.1368A> C (p.Gln456His) single nucleotide variant Pathogenic rs80338685 GRCh37 Chromosome 3, 15686731: 15686731
9 BTD NM_000060.4(BTD): c.235C> T (p.Arg79Cys) single nucleotide variant Pathogenic rs104893687 GRCh37 Chromosome 3, 15677121: 15677121
10 BTD NM_000060.4(BTD): c.1157G> A (p.Trp386Ter) single nucleotide variant Pathogenic rs397514401 GRCh37 Chromosome 3, 15686520: 15686520
11 BTD NM_000060.4(BTD): c.190G> A (p.Glu64Lys) single nucleotide variant Pathogenic rs397514340 GRCh38 Chromosome 3, 15635569: 15635569
12 BTD NM_000060.4(BTD): c.1271G> C (p.Cys424Ser) single nucleotide variant Pathogenic rs397514335 GRCh37 Chromosome 3, 15686634: 15686634
13 BTD NM_000060.4(BTD): c.136G> T (p.Glu46Ter) single nucleotide variant Pathogenic rs397514336 GRCh37 Chromosome 3, 15677022: 15677022
14 BTD NM_000060.4(BTD): c.171T> G (p.Tyr57Ter) single nucleotide variant Pathogenic rs397514339 GRCh37 Chromosome 3, 15677057: 15677057
15 BTD NM_000060.4(BTD): c.184G> T (p.Val62Leu) single nucleotide variant Pathogenic rs397507170 GRCh37 Chromosome 3, 15677070: 15677070
16 BTD H65fs insertion Pathogenic
17 BTD NM_000060.4(BTD): c.194A> G (p.His65Arg) single nucleotide variant Pathogenic rs397514341 GRCh37 Chromosome 3, 15677080: 15677080
18 BTD NM_000060.4(BTD): c.245C> T (p.Ala82Val) single nucleotide variant Pathogenic rs397507171 GRCh37 Chromosome 3, 15677131: 15677131
19 BTD NM_000060.4(BTD): c.246_254delCTTGGAGCT (p.Leu83_Leu85del) deletion Pathogenic rs397514346 GRCh37 Chromosome 3, 15677132: 15677140
20 BTD NM_000060.4(BTD): c.248T> C (p.Leu83Ser) single nucleotide variant Pathogenic rs397514347 GRCh37 Chromosome 3, 15677134: 15677134
21 BTD NM_000060.4(BTD): c.262C> T (p.Gln88Ter) single nucleotide variant Pathogenic rs151071780 GRCh37 Chromosome 3, 15677148: 15677148
22 BTD NM_000060.4(BTD): c.278A> G (p.Tyr93Cys) single nucleotide variant Pathogenic rs397514348 GRCh37 Chromosome 3, 15677164: 15677164
23 BTD NM_000060.4(BTD): c.298G> A (p.Ala100Thr) single nucleotide variant Pathogenic rs397514350 GRCh37 Chromosome 3, 15677184: 15677184
24 BTD NM_000060.4(BTD): c.310G> T (p.Asp104Tyr) single nucleotide variant Pathogenic rs397514351 GRCh37 Chromosome 3, 15683415: 15683415
25 BTD NM_000060.4(BTD): c.334G> C (p.Glu112Gln) single nucleotide variant Pathogenic rs397514352 GRCh37 Chromosome 3, 15683439: 15683439
26 BTD NM_000060.4(BTD): c.334G> A (p.Glu112Lys) single nucleotide variant Pathogenic rs397514352 GRCh37 Chromosome 3, 15683439: 15683439
27 BTD NM_000060.4(BTD): c.341G> T (p.Gly114Val) single nucleotide variant Pathogenic rs375712490 GRCh37 Chromosome 3, 15683446: 15683446
28 BTD NM_000060.4(BTD): c.356A> G (p.Asn119Ser) single nucleotide variant Pathogenic rs397514353 GRCh37 Chromosome 3, 15683461: 15683461
29 BTD NM_000060.4(BTD): c.364A> G (p.Arg122Gly) single nucleotide variant Pathogenic rs397514354 GRCh37 Chromosome 3, 15683469: 15683469
30 BTD NM_000060.4(BTD): c.382T> G (p.Phe128Val) single nucleotide variant Pathogenic rs397514355 GRCh37 Chromosome 3, 15683487: 15683487
31 BTD NM_000060.4(BTD): c.393delC (p.Phe131Leufs) deletion Pathogenic rs397514356 GRCh37 Chromosome 3, 15683498: 15683498
32 BTD NM_000060.4(BTD): c.424C> A (p.Pro142Thr) single nucleotide variant Pathogenic/Likely pathogenic rs397514357 GRCh37 Chromosome 3, 15683529: 15683529
33 BTD NM_000060.4(BTD): c.443G> A (p.Arg148His) single nucleotide variant Pathogenic rs367902696 GRCh37 Chromosome 3, 15683548: 15683548
34 BTD NM_000060.4(BTD): c.445T> C (p.Phe149Leu) single nucleotide variant Pathogenic rs397514359 GRCh37 Chromosome 3, 15683550: 15683550
35 BTD NM_000060.4(BTD): c.454A> C (p.Thr152Pro) single nucleotide variant Pathogenic rs374681173 GRCh37 Chromosome 3, 15683559: 15683559
36 BTD NM_000060.4(BTD): c.459G> A (p.Glu153Glu=) single nucleotide variant Pathogenic/Likely pathogenic rs397514360 GRCh37 Chromosome 3, 15683564: 15683564
37 BTD NM_000060.4(BTD): c.466C> T (p.Gln156Ter) single nucleotide variant Pathogenic rs397514362 GRCh37 Chromosome 3, 15685829: 15685829
38 BTD NM_000060.4(BTD): c.469C> T (p.Arg157Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397514363 GRCh37 Chromosome 3, 15685832: 15685832
39 BTD NM_000060.4(BTD): c.485C> T (p.Ala162Val) single nucleotide variant Pathogenic rs397514364 GRCh37 Chromosome 3, 15685848: 15685848
40 BTD NM_000060.4(BTD): c.490_491delAG (p.Arg164Glyfs) deletion Pathogenic rs397514365 GRCh37 Chromosome 3, 15685853: 15685854
41 BTD NM_000060.4(BTD): c.511G> A (p.Ala171Thr) single nucleotide variant Pathogenic rs13073139 GRCh37 Chromosome 3, 15685874: 15685874
42 BTD NM_000060.4(BTD): c.515A> G (p.Asn172Ser) single nucleotide variant Pathogenic rs397514366 GRCh37 Chromosome 3, 15685878: 15685878
43 BTD NM_000060.4(BTD): c.528G> T (p.Lys176Asn) single nucleotide variant Pathogenic/Likely pathogenic rs397514367 GRCh37 Chromosome 3, 15685891: 15685891
44 BTD NM_000060.4(BTD): c.544delA (p.Ser182Valfs) deletion Pathogenic rs397514368 GRCh37 Chromosome 3, 15685907: 15685907
45 BTD NM_000060.4(BTD): c.557G> A (p.Cys186Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs397514369 GRCh37 Chromosome 3, 15685920: 15685920
46 BTD NM_000060.4(BTD): c.583A> G (p.Asn195Asp) single nucleotide variant Pathogenic rs397514370 GRCh37 Chromosome 3, 15685946: 15685946
47 BTD NM_000060.4(BTD): c.584A> G (p.Asn195Ser) single nucleotide variant Pathogenic rs397514371 GRCh37 Chromosome 3, 15685947: 15685947
48 BTD NM_000060.4(BTD): c.587C> G (p.Thr196Arg) single nucleotide variant Pathogenic rs397514372 GRCh37 Chromosome 3, 15685950: 15685950
49 BTD NM_000060.4(BTD): c.594_596delCGT (p.Val199del) deletion Pathogenic rs397514373 GRCh37 Chromosome 3, 15685957: 15685959
50 BTD NM_000060.4(BTD): c.594delC (p.Val199Cysfs) deletion Pathogenic rs397514374 GRCh37 Chromosome 3, 15685957: 15685957

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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 ACADM LPL PCCB
2
Show member pathways
11.87 BTD HLCS LPL PCCB
3
Show member pathways
11.51 ACADM PCCB
4 11.23 ACADM LPL
5
Show member pathways
11.14 ACADM PCCB
6
Show member pathways
10.98 ACADM LPL
7 10.66 ACADM PCCB
8 9.1 BTD HLCS

GO Terms for Biotinidase Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.8 ACADM BTD PCCB

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

id Name GO ID Score Top Affiliating Genes
1 fatty acid biosynthetic process GO:0006633 9.26 LPL PCCB
2 response to glucose GO:0009749 9.16 EIF2B4 LPL
3 response to cold GO:0009409 8.96 ACADM LPL
4 biotin metabolic process GO:0006768 8.8 BTD HLCS PCCB

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

id Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 8.62 HLCS PCCB

Sources for Biotinidase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
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