MCID: BTN004
MIFTS: 37

Biotin Deficiency

Categories: Metabolic diseases

Aliases & Classifications for Biotin Deficiency

MalaCards integrated aliases for Biotin Deficiency:

Name: Biotin Deficiency 12 72 14 69
Biotin Deficiency Disease 69
B7 Deficiency 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050810

Summaries for Biotin Deficiency

Disease Ontology : 12 A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth.

MalaCards based summary : Biotin Deficiency, also known as biotin deficiency disease, is related to biotinidase deficiency and holocarboxylase synthetase deficiency. An important gene associated with Biotin Deficiency is SLC5A6 (Solute Carrier Family 5 Member 6), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Miconazole and Antifungal Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and pancreatic islet, and related phenotype is growth/size/body region.

Wikipedia : 72 Biotin deficiency is a rare nutritional disorder which can become serious, even fatal, if allowed to... more...

Related Diseases for Biotin Deficiency

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



Diseases related to Biotin Deficiency

Symptoms & Phenotypes for Biotin Deficiency

MGI Mouse Phenotypes related to Biotin Deficiency:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.1 ACACA ACACB BTD PC SLC19A3 SLC5A6

Drugs & Therapeutics for Biotin Deficiency

Drugs for Biotin 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 Biotin Deficiency

Genetic Tests for Biotin Deficiency

Anatomical Context for Biotin Deficiency

MalaCards organs/tissues related to Biotin Deficiency:

38
Eye, Testes, Pancreatic Islet, Skin, Liver, Brain, Heart

Publications for Biotin Deficiency

Articles related to Biotin Deficiency:

(show all 34)
# Title Authors Year
1
Effects of Biotin Deficiency on Biotinylated Proteins and Biotin-Related Genes in the Rat Brain. ( 27264091 )
2016
2
Thiamine Deprivation Produces a Liver ATP Deficit and Metabolic and Genomic Effects in Mice: Findings Are Parallel to Those of Biotin Deficiency and Have Implications for Energy Disorders. ( 28214879 )
2016
3
Biotin deficiency enhances the inflammatory response of human dendritic cells. ( 27413170 )
2016
4
In HepG2 cells, coexisting carnitine deficiency masks important indicators of marginal biotin deficiency. ( 25527659 )
2015
5
Consumption of a low-carbohydrate and high-fat diet (the ketogenic diet) exaggerates biotin deficiency in mice. ( 24012088 )
2013
6
Marginal biotin deficiency can be induced experimentally in humans using a cost-effective outpatient design. ( 22157538 )
2012
7
Biotin deficiency causes spontaneous cell death and activation of defense signaling. ( 22126457 )
2012
8
Effects of biotin deficiency on pancreatic islet morphology, insulin sensitivity and glucose homeostasis. ( 21596550 )
2012
9
Biotin deficiency in a glycogen storage disease type 1b girl fed only with glycogen storage disease-related formula. ( 21371115 )
2011
10
Urinary excretion of 3-hydroxyisovaleryl carnitine is an early and sensitive indicator of marginal biotin deficiency in humans. ( 21248194 )
2011
11
Question 2. What is the incidence of biotin deficiency in preschool children with global developmental delay? ( 21836181 )
2011
12
Plasma concentration of 3-hydroxyisovaleryl carnitine is an early and sensitive indicator of marginal biotin deficiency in humans. ( 20943794 )
2010
13
Biotin deficiency in dizygotic twins due to amino acid formula nutrition. ( 20956105 )
2010
14
Effects of biotin deficiency on embryonic development in mice. ( 18752930 )
2009
15
Biotin deficiency and biotin excess: effects on the female reproductive system. ( 19540254 )
2009
16
Marginal biotin deficiency is common in normal human pregnancy and is highly teratogenic in mice. ( 19056637 )
2009
17
Biotin deficiency in mice is associated with decreased serum availability of insulin-like growth factor-I. ( 19165522 )
2009
18
Biotin deficiency up-regulates TNF-alpha production in murine macrophages. ( 18174365 )
2008
19
Biotin deficiency affects the proliferation of human embryonic palatal mesenchymal cells in culture. ( 18356320 )
2008
20
Functional and metabolic implications of biotin deficiency for the rat heart. ( 18824381 )
2008
21
Biotin deficiency inhibits heme synthesis and impairs mitochondria in human lung fibroblasts. ( 17182796 )
2007
22
Biotin deficiency affects both synthesis and degradation of pyruvate carboxylase in rat primary hepatocyte cultures. ( 17720579 )
2007
23
Lymphocyte propionyl-CoA carboxylase and its activation by biotin are sensitive indicators of marginal biotin deficiency in humans. ( 16895887 )
2006
24
Biotin deficiency reduces expression of SLC19A3, a potential biotin transporter, in leukocytes from human blood. ( 15623830 )
2005
25
Marginal biotin deficiency is teratogenic in mice and perhaps humans: a review of biotin deficiency during human pregnancy and effects of biotin deficiency on gene expression and enzyme activities in mouse dam and fetus. ( 15992686 )
2005
26
Biotin deficiency stimulates survival pathways in human lymphoma cells exposed to antineoplastic drugs. ( 15681168 )
2005
27
Biotin deficiency in an infant fed with amino acid formula. ( 15863846 )
2005
28
Dermatologic signs of biotin deficiency leading to the diagnosis of multiple carboxylase deficiency. ( 15165201 )
2004
29
Normalization of low biotinidase activity in a child with biotin deficiency after biotin supplementation. ( 14707523 )
2003
30
Biotin deficiency in protein-energy malnutrition: implications for nutritional homeostasis and individuality. ( 9433719 )
1997
31
Acylcarnitine profile in tissues and body fluids of biotin-deficient rats with and without L-carnitine supplementation. ( 7707691 )
1994
32
Skin manifestations of biotin deficiency. ( 1764357 )
1991
33
Biotin deficiency in protein-energy malnutrition. ( 2499449 )
1989
34
Klinefelter's syndrome : hypogonadism, abnormal carbohydrate metabolism. It it a result of biotin deficiency ? ( 7289915 )
1981

Variations for Biotin Deficiency

Expression for Biotin Deficiency

Search GEO for disease gene expression data for Biotin Deficiency.

Pathways for Biotin Deficiency

Pathways related to Biotin Deficiency according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 ACACA ACACB BTD HLCS PC PCCB
2
Show member pathways
11.83 ACACA ACACB BTD HLCS PC PCCB
3
Show member pathways
11.64 ACACA PC PCCB
4 11.56 ACACA ACACB
5
Show member pathways
11.52 ACACA ACACB
6 11.24 ACACA ACACB
7
Show member pathways
11.17 ACACA ACACB PC
8 11.07 ACACA ACACB
9 11 ACACA ACACB PCCB
10 10.81 BTD SLC19A3 SLC5A6
11 10.67 ACACA ACACB PC
12 10.61 ACACA ACACB
13
Show member pathways
10.36 ACACA ACACB
14
Show member pathways
10.21 ACACA PC PCCB
15 9.88 BTD HLCS

GO Terms for Biotin Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.13 BTD PC PCCB
2 mitochondrion GO:0005739 9.02 ACACA ACACB HLCS PC PCCB

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

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.71 ACACA ACACB HLCS PC
2 protein homotetramerization GO:0051289 9.46 ACACA ACACB
3 regulation of cholesterol biosynthetic process GO:0045540 9.43 ACACA ACACB
4 fatty acid biosynthetic process GO:0006633 9.43 ACACA ACACB PCCB
5 carnitine shuttle GO:0006853 9.37 ACACA ACACB
6 positive regulation of cellular metabolic process GO:0031325 9.32 ACACA ACACB
7 biotin metabolic process GO:0006768 9.17 ACACA ACACB BTD HLCS PC PCCB
8 acetyl-CoA metabolic process GO:0006084 9.16 ACACA ACACB
9 malonyl-CoA biosynthetic process GO:2001295 8.96 ACACA ACACB

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.77 ACACA ACACB HLCS PC PCCB
2 ligase activity GO:0016874 9.65 ACACA ACACB HLCS PC PCCB
3 catalytic activity GO:0003824 9.62 ACACA ACACB HLCS PC
4 biotin carboxylase activity GO:0004075 9.33 ACACA ACACB PC
5 biotin binding GO:0009374 9.13 ACACB HLCS PC
6 acetyl-CoA carboxylase activity GO:0003989 8.8 ACACA ACACB PCCB

Sources for Biotin 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
Content
Loading form....