MCID: BTN004
MIFTS: 37

Biotin Deficiency

Categories: Metabolic diseases

Aliases & Classifications for Biotin Deficiency

MalaCards integrated aliases for Biotin Deficiency:

Name: Biotin Deficiency 12 76 15 73
Biotin Deficiency Disease 73
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 : 76 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:

46
# 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 Not Applicable 58-85-5 171548
10
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
11 Micronutrients Not Applicable
12 Trace Elements Not Applicable
13 Vitamin B Complex Not Applicable
14 Vitamins Not Applicable
15 Folate Nutraceutical Not Applicable
16 Vitamin B7 Nutraceutical Not Applicable
17 Vitamin B9 Nutraceutical Not Applicable

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 Not Applicable
4 Biotin Status in Pregnancy Completed NCT00894920 Not Applicable
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:

41
Eye, Testes, Pancreatic Islet, Skin, Lung, Liver, Bone

Publications for Biotin Deficiency

Articles related to Biotin Deficiency:

(show all 50)
# Title Authors Year
1
Biotin Deficiency Induces Th1- and Th17-Mediated Proinflammatory Responses in Human CD4<sup>+</sup> T Lymphocytes via Activation of the mTOR Signaling Pathway. ( 29531163 )
2018
2
Effects of Biotin Deficiency on Biotinylated Proteins and Biotin-Related Genes in the Rat Brain. ( 27264091 )
2016
3
Biotin deficiency enhances the inflammatory response of human dendritic cells. ( 27413170 )
2016
4
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
5
In HepG2 cells, coexisting carnitine deficiency masks important indicators of marginal biotin deficiency. ( 25527659 )
2015
6
Consumption of a low-carbohydrate and high-fat diet (the ketogenic diet) exaggerates biotin deficiency in mice. ( 24012088 )
2013
7
Marginal biotin deficiency can be induced experimentally in humans using a cost-effective outpatient design. ( 22157538 )
2012
8
Effects of biotin deficiency on pancreatic islet morphology, insulin sensitivity and glucose homeostasis. ( 21596550 )
2012
9
Biotin deficiency causes spontaneous cell death and activation of defense signaling. ( 22126457 )
2012
10
Question 2. What is the incidence of biotin deficiency in preschool children with global developmental delay? ( 21836181 )
2011
11
Biotin deficiency in a glycogen storage disease type 1b girl fed only with glycogen storage disease-related formula. ( 21371115 )
2011
12
Urinary excretion of 3-hydroxyisovaleryl carnitine is an early and sensitive indicator of marginal biotin deficiency in humans. ( 21248194 )
2011
13
Biotin deficiency in dizygotic twins due to amino acid formula nutrition. ( 20956105 )
2010
14
Plasma concentration of 3-hydroxyisovaleryl carnitine is an early and sensitive indicator of marginal biotin deficiency in humans. ( 20943794 )
2010
15
Marginal biotin deficiency is common in normal human pregnancy and is highly teratogenic in mice. ( 19056637 )
2009
16
Biotin deficiency in mice is associated with decreased serum availability of insulin-like growth factor-I. ( 19165522 )
2009
17
Effects of biotin deficiency on embryonic development in mice. ( 18752930 )
2009
18
Biotin deficiency and biotin excess: effects on the female reproductive system. ( 19540254 )
2009
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 up-regulates TNF-alpha production in murine macrophages. ( 18174365 )
2008
22
Biotin deficiency inhibits heme synthesis and impairs mitochondria in human lung fibroblasts. ( 17182796 )
2007
23
Biotin deficiency affects both synthesis and degradation of pyruvate carboxylase in rat primary hepatocyte cultures. ( 17720579 )
2007
24
Lymphocyte propionyl-CoA carboxylase and its activation by biotin are sensitive indicators of marginal biotin deficiency in humans. ( 16895887 )
2006
25
Biotin deficiency stimulates survival pathways in human lymphoma cells exposed to antineoplastic drugs. ( 15681168 )
2005
26
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
27
Biotin deficiency in an infant fed with amino acid formula. ( 15863846 )
2005
28
Marginal maternal biotin deficiency in CD-1 mice reduces fetal mass of biotin-dependent carboxylases. ( 15867267 )
2005
29
Biotin deficiency reduces expression of SLC19A3, a potential biotin transporter, in leukocytes from human blood. ( 15623830 )
2005
30
3-Hydroxypropionic acid and methylcitric acid are not reliable indicators of marginal biotin deficiency in humans. ( 14747666 )
2004
31
Dermatologic signs of biotin deficiency leading to the diagnosis of multiple carboxylase deficiency. ( 15165201 )
2004
32
Biotin deficiency decreases life span and fertility but increases stress resistance in Drosophila melanogaster. ( 15542350 )
2004
33
Marginal biotin deficiency is teratogenic in ICR mice. ( 12888630 )
2003
34
Normalization of low biotinidase activity in a child with biotin deficiency after biotin supplementation. ( 14707523 )
2003
35
Indicators of marginal biotin deficiency and repletion in humans: validation of 3-hydroxyisovaleric acid excretion and a leucine challenge. ( 12399279 )
2002
36
Biotin deficiency in protein-energy malnutrition: implications for nutritional homeostasis and individuality. ( 9433719 )
1997
37
Acylcarnitine profile in tissues and body fluids of biotin-deficient rats with and without L-carnitine supplementation. ( 7707691 )
1994
38
Dietary biotin deficiency affects reproductive function and prenatal development in hamsters. ( 8263603 )
1993
39
Skin manifestations of biotin deficiency. ( 1764357 )
1991
40
Biotin studies in pigs. 1. Biotin deficiency in the young pig. ( 2605163 )
1989
41
Biotin deficiency in protein-energy malnutrition. ( 2499449 )
1989
42
Regulation of intestinal biotin transport in the rat: effect of biotin deficiency and supplementation. ( 2919673 )
1989
43
Biotin deficiency may alter tibiotarsal bone growth and modeling in broiler chicks. ( 3405935 )
1988
44
Biotin deficiency during total parenteral nutrition: its clinical manifestation and plasma nonesterified fatty acid level. ( 3934411 )
1985
45
Effects of biotin deficiency on polyunsaturated fatty acid metabolism in rats. ( 6436451 )
1984
46
Biotin deficiency in a patient with short bowel syndrome during home parenteral nutrition. ( 6429370 )
1984
47
Possible biotin deficiency in adults receiving long-term total parenteral nutrition. ( 6401910 )
1983
48
Klinefelter's syndrome : hypogonadism, abnormal carbohydrate metabolism. It it a result of biotin deficiency ? ( 7289915 )
1981
49
Effects of biotin deficiency on serum proteins and plasma amino acids. ( 82516 )
1978
50
Biotin deficiency in chicks fed a wheat-based diet. ( 977217 )
1976

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
11.6 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
10.38 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 lipid metabolic process GO:0006629 9.65 ACACA ACACB PC
3 protein homotetramerization GO:0051289 9.46 ACACA ACACB
4 regulation of cholesterol biosynthetic process GO:0045540 9.43 ACACA ACACB
5 carnitine shuttle GO:0006853 9.37 ACACA ACACB
6 fatty acid biosynthetic process GO:0006633 9.33 ACACA ACACB PCCB
7 acetyl-CoA metabolic process GO:0006084 9.32 ACACA ACACB
8 positive regulation of cellular metabolic process GO:0031325 9.26 ACACA ACACB
9 biotin metabolic process GO:0006768 9.17 ACACA ACACB BTD HLCS PC PCCB
10 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 catalytic activity GO:0003824 9.62 ACACA ACACB HLCS PC
3 biotin binding GO:0009374 9.43 ACACB HLCS PC
4 ligase activity GO:0016874 9.35 ACACA ACACB HLCS PC PCCB
5 biotin carboxylase activity GO:0004075 9.33 ACACA ACACB 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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