MCID: BTN004
MIFTS: 38

Biotin Deficiency

Categories: Metabolic diseases

Aliases & Classifications for Biotin Deficiency

MalaCards integrated aliases for Biotin Deficiency:

Name: Biotin Deficiency 12 74 43 15 71
Biotin Deficiency Disease 71
B7 Deficiency 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050810
MeSH 43 C531633
UMLS 71 C0268680 C2937225

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 BTD (Biotinidase), 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 skin, and related phenotype is liver/biliary system.

Wikipedia : 74 Biotin deficiency is a rare nutritional disorder which can become serious, even fatal, if allowed to... more...

Related Diseases for Biotin Deficiency

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

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 biotinidase deficiency 33.0 SLC5A6 PCCB PC HLCS BTD
2 holocarboxylase synthetase deficiency 32.4 SLC5A6 PC HLCS BTD
3 seborrheic dermatitis 30.1 TNF BTD
4 organic acidemia 29.8 PCCB PCCA HLCS BTD
5 propionic acidemia 29.3 PCCB PCCA PC HLCS
6 multiple carboxylase deficiency 27.5 SLC5A6 PCCB PCCA PC MCCC1 HLCS
7 cleft palate, isolated 10.3
8 fatty liver disease 10.3
9 alopecia 10.3
10 thiamine metabolism dysfunction syndrome 2 10.3 SLC5A6 SLC19A3
11 dermatitis 10.1
12 spondylarthropathy 10.1 TNF CD40
13 exanthem 10.0
14 isovaleric acidemia 10.0 PCCB BTD
15 cryptorchidism, unilateral or bilateral 9.9
16 protein-energy malnutrition 9.9
17 hypoglycemia 9.9
18 exencephaly 9.9
19 hypotonia 9.9
20 mucocutaneous leishmaniasis 9.9 TNF H2AC18
21 carbohydrate metabolic disorder 9.9 HLCS H2AC18 BTD
22 alpha-methylacetoacetic aciduria 9.9 HLCS BTD
23 autoimmune vasculitis 9.9 TNF H2AC18
24 pyruvate dehydrogenase e1-alpha deficiency 9.9 SLC19A3 PC H2AC18
25 orchitis 9.9 TNF H2AC18
26 hyperinsulinemic hypoglycemia, familial, 6 9.9 SLC16A1 PC
27 3-methylcrotonyl-coa carboxylase deficiency 9.8 PCCB MCCC1 HLCS BTD
28 spinal cord disease 9.8 TNF H2AC18 BTD
29 autoimmune disease 9.8
30 hair whorl 9.8
31 macroglossia 9.8
32 papillomatosis, confluent and reticulated 9.8
33 volvulus of midgut 9.8
34 3-methylcrotonyl-coa carboxylase 1 deficiency 9.8
35 glycogen storage disease ia 9.8
36 maple syrup urine disease 9.8
37 pyruvate carboxylase deficiency 9.8
38 insulin-like growth factor i 9.8
39 wernicke-korsakoff syndrome 9.8
40 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
41 carbonic anhydrase va deficiency, hyperammonemia due to 9.8
42 autosomal recessive disease 9.8
43 metabolic acidosis 9.8
44 hypogonadotropic hypogonadism 9.8
45 short bowel syndrome 9.8
46 neutropenia 9.8
47 marasmus 9.8
48 kwashiorkor 9.8
49 beriberi 9.8
50 keratosis 9.8

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.17 ACACA ACACB PCCA SLC16A1 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 Anti-Infective Agents Phase 2
4 Dermatologic Agents Phase 2
5 Antifungal Agents Phase 2
6 Cyclosporins Phase 2
7 Antirheumatic Agents Phase 2
8 Immunosuppressive Agents Phase 2
9 Calcineurin Inhibitors Phase 2
10
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
11
Biotin Approved, Investigational, Nutraceutical 58-85-5 171548
12 Micronutrients
13 Vitamins
14 Trace Elements
15 Vitamin B Complex
16 Vitamin B7
17 Nutrients
18 Vitamin B9
19 Folate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Single Center, Investigator-blinded Study of the Efficacy of Topical Cyclosporine 0.05% Ophthalmic Suspension (RESTASIS®) Under Occlusion Versus Vehicle in the Treatment of Brittle Nail Syndrome Completed NCT01064830 Phase 2 topical cyclosporine ophthalmic suspension 0.05%;vehicle
2 Biotin Status in Pregnancy Completed NCT00894920
3 Biotin Deficiency and Restless Legs Syndrome: Evidence for a Causal Relationship From Randomized, Double-Blind, Placebo-Controlled Trial Completed NCT02011191
4 BIOtinidase Test In Optic-Neuropathy Completed NCT03268681

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:

40
Liver, Eye, Skin, Kidney, Testes, Brain, T Cells

Publications for Biotin Deficiency

Articles related to Biotin Deficiency:

(show top 50) (show all 412)
# Title Authors PMID Year
1
Dietary biotin deficiency decreased growth performance and impaired the immune function of the head kidney, spleen and skin in on-growing grass carp (Ctenopharyngodon idella). 61
31857225 2020
2
Construction and applications of a B vitamin genetic resource for investigation of vitamin-dependent metabolism in maize. 61
31520508 2020
3
Biotin Supplementation Ameliorates Murine Colitis by Preventing NF-κB Activation. 61
31786364 2019
4
Biotin deficiency in hyperemesis gravidarum. 61
31335232 2019
5
Biotin: overview of the treatment of diseases of cutaneous appendages and of hyperseborrhea. 61
31638351 2019
6
Tamoxifen-induced, intestinal-specific deletion of Slc5a6 in adult mice leads to spontaneous inflammation: involvement of NF-κB, NLRP3, and gut microbiota. 61
31369292 2019
7
Effect of perinatal biotin deficiency on auditory pathway of the Wistar-Albino rats. 61
31124733 2019
8
Biotin Is Required for the Zinc Homeostasis in the Skin. 61
31022908 2019
9
Autophagy inhibition by biotin elicits endoplasmic reticulum stress to differentially regulate adipocyte lipid and protein synthesis. 61
30648232 2019
10
A Biomedical Approach Via Telemedicine in the Treatment of a Child With Sensory Processing Disorder Using Diet and High-dose Biotin Intervention: A Case Report. 61
31043911 2018
11
Biotin Deficiency Induces Th1- and Th17-Mediated Proinflammatory Responses in Human CD4+ T Lymphocytes via Activation of the mTOR Signaling Pathway. 61
29531163 2018
12
Zinc and Skin Disorders. 61
29439479 2018
13
Developmental window of sensorineural deafness in biotinidase-deficient mice. 61
28516283 2017
14
Biotin: From Nutrition to Therapeutics. 61
28701385 2017
15
A Review of the Use of Biotin for Hair Loss. 61
28879195 2017
16
Selective accumulation of biotin in arterial chemoreceptors: requirement for carotid body exocytotic dopamine secretion. 61
27570189 2016
17
Low serum biotin in Japanese children fed with hydrolysate formula. 61
26824516 2016
18
Serum biotin in Japanese children: Enzyme-linked immunosorbent assay measurement. 61
26933789 2016
19
Role of the sodium-dependent multivitamin transporter (SMVT) in the maintenance of intestinal mucosal integrity. 61
27492331 2016
20
Biotin deficiency enhances the inflammatory response of human dendritic cells. 61
27413170 2016
21
Severe hypoglycemic encephalopathy due to hypoallergenic formula in an infant. 61
27324861 2016
22
Serum Biotin Levels in Women Complaining of Hair Loss. 61
27601860 2016
23
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. 61
28214879 2016
24
Effects of Biotin Deficiency on Biotinylated Proteins and Biotin-Related Genes in the Rat Brain. 61
27264091 2016
25
Microarray analysis of pancreatic gene expression during biotin repletion in biotin-deficient rats. 61
26312779 2015
26
Regulation of immunological and inflammatory functions by biotin. 61
26168302 2015
27
Biotin starvation causes mitochondrial protein hyperacetylation and partial rescue by the SIRT3-like deacetylase Hst4p. 61
26158509 2015
28
Screening of Inherited Metabolic Disorders in Infants with Infantile Spasms. 61
25417060 2015
29
In HepG2 cells, coexisting carnitine deficiency masks important indicators of marginal biotin deficiency. 61
25527659 2015
30
The sodium/multivitamin transporter: a multipotent system with therapeutic implications. 61
25817866 2015
31
Biotin-deficient diet induces chromosome misalignment and spindle defects in mouse oocytes. 61
25301108 2015
32
[Biotinidase deficiency and vascular ring malformation: case report]. 61
25192539 2014
33
Insulin sensitivity is inversely related to cellular energy status, as revealed by biotin deprivation. 61
24801390 2014
34
[Prospective study of biotin treatment in patients with erythema due to gefitinib or erlotinib]. 61
24743373 2014
35
Observations of the "egg white injury" in ants. 61
25392989 2014
36
Consumption of a low-carbohydrate and high-fat diet (the ketogenic diet) exaggerates biotin deficiency in mice. 61
24012088 2013
37
Identification and assessment of markers of biotin status in healthy adults. 61
23302490 2013
38
Biotin and carnitine profiles in preterm infants in Japan. 61
23316835 2013
39
Whole-blood 3-hydroxyisovalerylcarnitine as a risk factor for orofacial clefts. 61
23395542 2013
40
Temporal development of genetic and metabolic effects of biotin deprivation. A search for the optimum time to study a vitamin deficiency. 61
23010431 2012
41
Effects of cecal oxytetracycline infusion, and dietary avidin and biotin supplementation on the biotin status of nongravid gilts. 61
22665640 2012
42
Measurement of acylcarnitine substrate to product ratios specific to biotin-dependent carboxylases offers a combination of indicators of biotin status in humans. 61
22833654 2012
43
Influences of dietary biotin and avidin on growth, survival, deficiency syndrome and hepatic gene expression of juvenile Nile tilapia Oreochromis niloticus. 61
22274648 2012
44
Intercellular production of tamavidin 1, a biotin-binding protein from Tamogitake mushroom, confers resistance to the blast fungus Magnaporthe oryzae in transgenic rice. 61
21739353 2012
45
Biotin requirements for DNA damage prevention. 61
21871906 2012
46
Biotin deficiency causes spontaneous cell death and activation of defense signaling. 61
22126457 2012
47
Effects of biotin deficiency on pancreatic islet morphology, insulin sensitivity and glucose homeostasis. 61
21596550 2012
48
Marginal biotin deficiency can be induced experimentally in humans using a cost-effective outpatient design. 61
22157538 2012
49
Biotin: biochemical, physiological and clinical aspects. 61
22116691 2012
50
Effects of dietary biotin and avidin on growth, survival, feed conversion, biotin status and gene expression of zebrafish Danio rerio. 61
21839851 2011

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 SLC5A6 SLC19A3 SLC16A1 PCCB PCCA PC
2
Show member pathways
11.93 SLC5A6 SLC19A3 PCCB PCCA PC MCCC1
3
Show member pathways
11.74 PCCB PCCA MCCC1
4
Show member pathways
11.52 PCCB PCCA PC MCCC1 ACACA
5
Show member pathways
11.23 PC ACACB ACACA
6 11.09 PCCB PCCA ACACB ACACA
7 10.92 SLC5A6 SLC19A3 BTD
8 10.84 PC ACACB ACACA
9 10.77 ACACB ACACA
10
Show member pathways
10.43 PCCB PCCA PC MCCC1 ACACA
11
Show member pathways
10.38 ACACB ACACA
12 9.88 HLCS BTD

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 9.02 PCCB PCCA PC MCCC1 BTD

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 fatty acid biosynthetic process GO:0006633 9.61 PCCB ACACB ACACA
2 pyruvate metabolic process GO:0006090 9.49 SLC16A1 PC
3 negative regulation of lipid catabolic process GO:0050995 9.48 TNF ACACB
4 carnitine shuttle GO:0006853 9.46 ACACB ACACA
5 metabolic process GO:0008152 9.46 PC HLCS ACACB ACACA
6 positive regulation of cellular metabolic process GO:0031325 9.4 ACACB ACACA
7 acetyl-CoA metabolic process GO:0006084 9.37 ACACB ACACA
8 regulation of immunoglobulin secretion GO:0051023 9.32 TNF CD40
9 short-chain fatty acid catabolic process GO:0019626 9.26 PCCB PCCA
10 biotin metabolic process GO:0006768 9.17 SLC5A6 PCCB PCCA PC MCCC1 HLCS
11 malonyl-CoA biosynthetic process GO:2001295 8.96 ACACB ACACA

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.91 PCCB PCCA PC MCCC1 HLCS ACACB
2 catalytic activity GO:0003824 9.71 PC HLCS ACACB ACACA
3 ligase activity GO:0016874 9.5 PCCB PCCA PC MCCC1 HLCS ACACB
4 biotin carboxylase activity GO:0004075 9.43 MCCC1 ACACB ACACA
5 acetyl-CoA carboxylase activity GO:0003989 9.33 PCCB ACACB ACACA
6 propionyl-CoA carboxylase activity GO:0004658 9.32 PCCB PCCA
7 biotin binding GO:0009374 9.02 PCCA PC MCCC1 HLCS ACACB

Sources for Biotin Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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