MCID: BTN004
MIFTS: 40

Biotin Deficiency

Categories: Metabolic diseases

Aliases & Classifications for Biotin Deficiency

MalaCards integrated aliases for Biotin Deficiency:

Name: Biotin Deficiency 12 77 45 15 74
Biotin Deficiency Disease 74
B7 Deficiency 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050810
MeSH 45 C531633

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 Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and kidney, and related phenotype is growth/size/body region.

Wikipedia : 77 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.02 ACACA ACACB BTD SLC19A3 SLC5A6

Drugs & Therapeutics for Biotin Deficiency

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
2 Immunologic Factors Phase 2
3 Dermatologic Agents Phase 2
4 Anti-Infective Agents Phase 2
5 Antifungal Agents Phase 2
6 Calcineurin Inhibitors Phase 2
7 Immunosuppressive Agents Phase 2
8 Antirheumatic Agents Phase 2
9 Cyclosporins Phase 2
10
Biotin Approved, Investigational, Nutraceutical Not Applicable 58-85-5 171548
11
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
12 Vitamin B7 Not Applicable
13 Trace Elements Not Applicable
14 Vitamin B Complex Not Applicable
15 Vitamin B9 Not Applicable
16 Vitamins Not Applicable
17 Folate Not Applicable
18 Nutrients Not Applicable
19 Micronutrients 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 BIOtinidase Test In Optic-Neuropathy Completed NCT03268681
5 Biotin Status in Pregnancy Completed NCT00894920 Not Applicable

Search NIH Clinical Center for Biotin Deficiency

Cochrane evidence based reviews: biotin deficiency

Genetic Tests for Biotin Deficiency

Anatomical Context for Biotin Deficiency

MalaCards organs/tissues related to Biotin Deficiency:

42
Liver, Eye, Kidney, Testes, Skin, Brain, Bone

Publications for Biotin Deficiency

Articles related to Biotin Deficiency:

(show top 50) (show all 193)
# Title Authors Year
1
Biotin Deficiency Induces Th1- and Th17-Mediated Proinflammatory Responses in Human CD4+ 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
Effects of biotin deficiency on pancreatic islet morphology, insulin sensitivity and glucose homeostasis. ( 21596550 )
2012
8
Biotin deficiency causes spontaneous cell death and activation of defense signaling. ( 22126457 )
2012
9
Marginal biotin deficiency can be induced experimentally in humans using a cost-effective outpatient design. ( 22157538 )
2012
10
Urinary excretion of 3-hydroxyisovaleryl carnitine is an early and sensitive indicator of marginal biotin deficiency in humans. ( 21248194 )
2011
11
Biotin deficiency in a glycogen storage disease type 1b girl fed only with glycogen storage disease-related formula. ( 21371115 )
2011
12
Question 2. What is the incidence of biotin deficiency in preschool children with global developmental delay? ( 21836181 )
2011
13
Plasma concentration of 3-hydroxyisovaleryl carnitine is an early and sensitive indicator of marginal biotin deficiency in humans. ( 20943794 )
2010
14
Biotin deficiency in dizygotic twins due to amino acid formula nutrition. ( 20956105 )
2010
15
Effects of biotin deficiency on embryonic development in mice. ( 18752930 )
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 and biotin excess: effects on the female reproductive system. ( 19540254 )
2009
19
Biotin deficiency up-regulates TNF-alpha production in murine macrophages. ( 18174365 )
2008
20
Biotin deficiency affects the proliferation of human embryonic palatal mesenchymal cells in culture. ( 18356320 )
2008
21
Functional and metabolic implications of biotin deficiency for the rat heart. ( 18824381 )
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 reduces expression of SLC19A3, a potential biotin transporter, in leukocytes from human blood. ( 15623830 )
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
Marginal maternal biotin deficiency in CD-1 mice reduces fetal mass of biotin-dependent carboxylases. ( 15867267 )
2005
29
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
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 blocks thymocyte maturation, accelerates thymus involution, and decreases nose-rump length in mice. ( 15284385 )
2004
33
Jurkat cells respond to biotin deficiency with increased nuclear translocation of NF-kappaB, mediating cell survival. ( 15296080 )
2004
34
Biotin deficiency decreases life span and fertility but increases stress resistance in Drosophila melanogaster. ( 15542350 )
2004
35
Experimental study of fatigue provoked by biotin deficiency in mice. ( 15628671 )
2004
36
Marginal biotin deficiency is teratogenic in ICR mice. ( 12888630 )
2003
37
Normalization of low biotinidase activity in a child with biotin deficiency after biotin supplementation. ( 14707523 )
2003
38
Marginal biotin deficiency during normal pregnancy. ( 11815321 )
2002
39
Lymphocyte propionyl-CoA carboxylase is an early and sensitive indicator of biotin deficiency in rats, but urinary excretion of 3-hydroxypropionic acid is not. ( 12097674 )
2002
40
Lymphocyte propionyl-CoA carboxylase and accumulation of odd-chain fatty acid in plasma and erythrocytes are useful indicators of marginal biotin deficiency small star, filled. ( 12165358 )
2002
41
Indicators of marginal biotin deficiency and repletion in humans: validation of 3-hydroxyisovaleric acid excretion and a leucine challenge. ( 12399279 )
2002
42
Certain immune markers are not good indicators of mild to moderate biotin deficiency in rats. ( 11739872 )
2001
43
Marginal biotin deficiency is teratogenic. ( 10632957 )
2000
44
Differential effects of biotin deficiency and replenishment on rat liver pyruvate and propionyl-CoA carboxylases and on their mRNAs. ( 9973543 )
1999
45
Biotin deficiency induces changes in subpopulations of spleen lymphocytes in mice. ( 9497186 )
1998
46
Intractable diaper dermatitis as an early sign of biotin deficiency. ( 9512215 )
1998
47
Increased urinary excretion of 3-hydroxyisovaleric acid and decreased urinary excretion of biotin are sensitive early indicators of decreased biotin status in experimental biotin deficiency. ( 9094878 )
1997
48
Biotin deficiency in protein-energy malnutrition: implications for nutritional homeostasis and individuality. ( 9433719 )
1997
49
Biotin deficiency decreases ornithine transcarbamylase activity and mRNA in rat liver. ( 8558326 )
1996
50
Biotin deficiency in an infant fed with amino acid formula and hypoallergenic rice. ( 8819558 )
1996

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 ACACA ACACB BTD HLCS PC PCCB
2
Show member pathways
11.83 ACACA ACACB BTD HLCS PC PCCB
3
Show member pathways
11.58 ACACA PC PCCB
4 11.55 ACACA ACACB
5
Show member pathways
11.51 ACACA ACACB
6 11.23 ACACA ACACB
7
Show member pathways
11.12 ACACA ACACB PC
8 11.05 ACACA ACACB
9 10.94 ACACA ACACB PCCB
10 10.73 ACACA ACACB
11 10.71 BTD SLC19A3 SLC5A6
12 10.47 ACACA ACACB PC
13
Show member pathways
10.36 ACACA ACACB
14 9.85 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 8.8 BTD PC PCCB

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.65 ACACA ACACB PC
2 protein homotetramerization GO:0051289 9.46 ACACA ACACB
3 metabolic process GO:0008152 9.46 ACACA ACACB HLCS PC
4 regulation of cholesterol biosynthetic process GO:0045540 9.43 ACACA ACACB
5 fatty acid biosynthetic process GO:0006633 9.43 ACACA ACACB PCCB
6 carnitine shuttle GO:0006853 9.4 ACACA ACACB
7 acetyl-CoA metabolic process GO:0006084 9.37 ACACA ACACB
8 positive regulation of cellular metabolic process GO:0031325 9.32 ACACA ACACB
9 malonyl-CoA biosynthetic process GO:2001295 8.96 ACACA ACACB
10 biotin metabolic process GO:0006768 8.92 BTD HLCS PC PCCB

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 ligase activity GO:0016874 9.35 ACACA ACACB HLCS PC PCCB
4 biotin binding GO:0009374 9.33 ACACB HLCS PC
5 biotin carboxylase activity GO:0004075 9.26 ACACA ACACB
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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