MCID: BTN004
MIFTS: 38

Biotin Deficiency

Categories: Metabolic diseases

Aliases & Classifications for Biotin Deficiency

MalaCards integrated aliases for Biotin Deficiency:

Name: Biotin Deficiency 12 75 44 15 72
Biotin Deficiency Disease 72
B7 Deficiency 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050810
MeSH 44 C531633
UMLS 72 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 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 liver, eye and skin, and related phenotype is growth/size/body region.

Wikipedia : 75 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 60)
# Related Disease Score Top Affiliating Genes
1 biotinidase deficiency 32.6 PCCB HLCS BTD
2 holocarboxylase synthetase deficiency 32.3 PC HLCS BTD
3 organic acidemia 29.4 PCCB HLCS BTD
4 propionic acidemia 29.0 PCCB HLCS
5 multiple carboxylase deficiency 28.0 PCCB PC HLCS BTD ACACA
6 cleft palate, isolated 10.3
7 fatty liver disease 10.3
8 alopecia 10.3
9 monocarboxylate transporter 1 deficiency 10.2 PC HLCS
10 dermatitis 10.1
11 thiamine metabolism dysfunction syndrome 2 10.0 SLC5A6 SLC19A3
12 exanthem 10.0
13 spinal cord disease 10.0 TNF BTD
14 basal ganglia disease 10.0 SLC5A6 SLC19A3
15 cryptorchidism, unilateral or bilateral 9.9
16 protein-energy malnutrition 9.9
17 seborrheic dermatitis 9.9
18 hypoglycemia 9.9
19 exencephaly 9.9
20 hypotonia 9.9
21 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 9.8 PC HLCS
22 autoimmune disease 9.8
23 hair whorl 9.8
24 macroglossia 9.8
25 triiodothyronine receptor auxiliary protein 9.8
26 3-methylcrotonyl-coa carboxylase 1 deficiency 9.8
27 glycogen storage disease ia 9.8
28 maple syrup urine disease 9.8
29 pyruvate carboxylase deficiency 9.8
30 insulin-like growth factor i 9.8
31 wernicke-korsakoff syndrome 9.8
32 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
33 carbonic anhydrase va deficiency, hyperammonemia due to 9.8
34 autosomal recessive disease 9.8
35 metabolic acidosis 9.8
36 hypogonadotropic hypogonadism 9.8
37 short bowel syndrome 9.8
38 neutropenia 9.8
39 marasmus 9.8
40 kwashiorkor 9.8
41 beriberi 9.8
42 keratosis 9.8
43 hypogonadism 9.8
44 dyspepsia 9.8
45 glycogen storage disease 9.8
46 histiocytosis 9.8
47 lactic acidosis 9.8
48 infertility 9.8
49 eosinophilic pneumonia 9.8
50 inherited metabolic disorder 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.1 ACACA ACACB BTD SLC19A3 SLC5A6 TNF

Drugs & Therapeutics for Biotin Deficiency

DrugBank drugs 16 :

# Drug Name Indication DrugBank ID
1 Leucovorin For the treatment of osteosarcoma (after high dose methotrexate therapy). Used to diminish the toxicity and counteract the effects of impaired methotrexate elimination and of inadvertent overdosages of folic acid antagonists, and to treat megaloblastic anemias due to folic acid deficiency. Also used in combination with 5-fluorouracil to prolong survival in the palliative treatment of patients with advanced colorectal cancer. DB00650
2 Levoleucovorin Levoleucovorin is indicated for use as rescue therapy following high-dose methotrexate in the treatment of osteosarcoma or for diminishing the toxicity associated with inadvertent overdosage of folic acid antagonists. Levoleucovorin, as the product Fusilev (FDA, dosed at one-half the usual dose of racemic d,l-leucovorin), has an additional indication for use in combination chemotherapy with 5-fluorouracil in the palliative treatment of patients with advanced metastatic colorectal cancer (although they should not be mixed in the same infusion as a precipitate may form). DB11596

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 Antifungal Agents Phase 2
3 Cyclosporins Phase 2
4 Immunosuppressive Agents Phase 2
5 Anti-Infective Agents Phase 2
6 Dermatologic Agents Phase 2
7 Calcineurin Inhibitors Phase 2
8 Immunologic Factors Phase 2
9 Antirheumatic Agents 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 Trace Elements
14 Vitamins
15 Vitamin B9
16 Folate
17 Nutrients
18 Vitamin B7
19 Vitamin B Complex

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

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Leucovorin
Levoleucovorin

Cochrane evidence based reviews: biotin deficiency

Genetic Tests for Biotin Deficiency

Anatomical Context for Biotin Deficiency

MalaCards organs/tissues related to Biotin Deficiency:

41
Liver, Eye, Skin, Kidney, Testes, Brain, Heart

Publications for Biotin Deficiency

Articles related to Biotin Deficiency:

(show top 50) (show all 409)
# Title Authors PMID Year
1
Effect of perinatal biotin deficiency on auditory pathway of the Wistar-Albino rats. 38
31124733 2019
2
Tamoxifen-induced, intestinal-specific deletion of Slc5a6 in adult mice leads to spontaneous inflammation: Involvement of NF-kB, NLRP3, and gut microbiota. 38
31369292 2019
3
Biotin deficiency in hyperemesis gravidarum. 38
31335232 2019
4
The Effect of a Combination of an Arginine Silicate Complex and Magnesium Biotinate on Hair and Nail Growth in Rats (P06-026-19). 38
31224728 2019
5
Biotin Is Required for the Zinc Homeostasis in the Skin. 38
31022908 2019
6
Autophagy inhibition by biotin elicits endoplasmic reticulum stress to differentially regulate adipocyte lipid and protein synthesis. 38
30648232 2019
7
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. 38
31043911 2018
8
Biotin Deficiency Induces Th1- and Th17-Mediated Proinflammatory Responses in Human CD4+ T Lymphocytes via Activation of the mTOR Signaling Pathway. 38
29531163 2018
9
Zinc and Skin Disorders. 38
29439479 2018
10
Developmental window of sensorineural deafness in biotinidase-deficient mice. 38
28516283 2017
11
Biotin: From Nutrition to Therapeutics. 38
28701385 2017
12
A Review of the Use of Biotin for Hair Loss. 38
28879195 2017
13
Selective accumulation of biotin in arterial chemoreceptors: requirement for carotid body exocytotic dopamine secretion. 38
27570189 2016
14
Role of the sodium-dependent multivitamin transporter (SMVT) in the maintenance of intestinal mucosal integrity. 38
27492331 2016
15
Serum biotin in Japanese children: Enzyme-linked immunosorbent assay measurement. 38
26933789 2016
16
Low serum biotin in Japanese children fed with hydrolysate formula. 38
26824516 2016
17
Biotin deficiency enhances the inflammatory response of human dendritic cells. 38
27413170 2016
18
Severe hypoglycemic encephalopathy due to hypoallergenic formula in an infant. 38
27324861 2016
19
Serum Biotin Levels in Women Complaining of Hair Loss. 38
27601860 2016
20
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. 38
28214879 2016
21
Effects of Biotin Deficiency on Biotinylated Proteins and Biotin-Related Genes in the Rat Brain. 38
27264091 2016
22
Microarray analysis of pancreatic gene expression during biotin repletion in biotin-deficient rats. 38
26312779 2015
23
Regulation of immunological and inflammatory functions by biotin. 38
26168302 2015
24
Biotin starvation causes mitochondrial protein hyperacetylation and partial rescue by the SIRT3-like deacetylase Hst4p. 38
26158509 2015
25
Screening of Inherited Metabolic Disorders in Infants with Infantile Spasms. 38
25417060 2015
26
In HepG2 cells, coexisting carnitine deficiency masks important indicators of marginal biotin deficiency. 38
25527659 2015
27
The sodium/multivitamin transporter: a multipotent system with therapeutic implications. 38
25817866 2015
28
Biotin-deficient diet induces chromosome misalignment and spindle defects in mouse oocytes. 38
25301108 2015
29
[Biotinidase deficiency and vascular ring malformation: case report]. 38
25192539 2014
30
Insulin sensitivity is inversely related to cellular energy status, as revealed by biotin deprivation. 38
24801390 2014
31
[Prospective study of biotin treatment in patients with erythema due to gefitinib or erlotinib]. 38
24743373 2014
32
Observations of the "egg white injury" in ants. 38
25392989 2014
33
Consumption of a low-carbohydrate and high-fat diet (the ketogenic diet) exaggerates biotin deficiency in mice. 38
24012088 2013
34
Identification and assessment of markers of biotin status in healthy adults. 38
23302490 2013
35
Biotin and carnitine profiles in preterm infants in Japan. 38
23316835 2013
36
Whole-blood 3-hydroxyisovalerylcarnitine as a risk factor for orofacial clefts. 38
23395542 2013
37
Temporal development of genetic and metabolic effects of biotin deprivation. A search for the optimum time to study a vitamin deficiency. 38
23010431 2012
38
Effects of cecal oxytetracycline infusion, and dietary avidin and biotin supplementation on the biotin status of nongravid gilts. 38
22665640 2012
39
Measurement of acylcarnitine substrate to product ratios specific to biotin-dependent carboxylases offers a combination of indicators of biotin status in humans. 38
22833654 2012
40
Influences of dietary biotin and avidin on growth, survival, deficiency syndrome and hepatic gene expression of juvenile Nile tilapia Oreochromis niloticus. 38
22274648 2012
41
Intercellular production of tamavidin 1, a biotin-binding protein from Tamogitake mushroom, confers resistance to the blast fungus Magnaporthe oryzae in transgenic rice. 38
21739353 2012
42
Biotin requirements for DNA damage prevention. 38
21871906 2012
43
Effects of biotin deficiency on pancreatic islet morphology, insulin sensitivity and glucose homeostasis. 38
21596550 2012
44
Biotin deficiency causes spontaneous cell death and activation of defense signaling. 38
22126457 2012
45
Marginal biotin deficiency can be induced experimentally in humans using a cost-effective outpatient design. 38
22157538 2012
46
Biotin: biochemical, physiological and clinical aspects. 38
22116691 2012
47
Effects of dietary biotin and avidin on growth, survival, feed conversion, biotin status and gene expression of zebrafish Danio rerio. 38
21839851 2011
48
[Problem of biotin deficiency associated with milk allergic child]. 38
22343776 2011
49
Urinary excretion of 3-hydroxyisovaleric acid and 3-hydroxyisovaleryl carnitine increases in response to a leucine challenge in marginally biotin-deficient humans. 38
21918059 2011
50
Measurement of 3-hydroxyisovaleric acid in urine from marginally biotin-deficient humans by UPLC-MS/MS. 38
21892638 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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 SLC5A6 SLC19A3 PCCB PC HLCS BTD
2
Show member pathways
11.83 SLC5A6 SLC19A3 PCCB PC HLCS BTD
3
Show member pathways
11.6 PCCB PC ACACA
4 11.38 TNF ACACB
5 11.24 ACACB ACACA
6
Show member pathways
11.17 PC ACACB ACACA
7 11.07 ACACB ACACA
8 11.03 PCCB ACACB ACACA
9 10.81 SLC5A6 SLC19A3 BTD
10 10.75 ACACB ACACA
11 10.67 PC ACACB ACACA
12
Show member pathways
10.34 ACACB ACACA
13
Show member pathways
10.21 PCCB PC ACACA
14 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 8.8 PCCB PC BTD

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.65 TNF PC ACACB
2 protein homotetramerization GO:0051289 9.49 ACACB ACACA
3 regulation of cholesterol biosynthetic process GO:0045540 9.46 ACACB ACACA
4 metabolic process GO:0008152 9.46 PC HLCS ACACB ACACA
5 negative regulation of lipid catabolic process GO:0050995 9.43 TNF ACACB
6 fatty acid biosynthetic process GO:0006633 9.43 PCCB ACACB ACACA
7 carnitine shuttle GO:0006853 9.4 ACACB ACACA
8 positive regulation of cellular metabolic process GO:0031325 9.37 ACACB ACACA
9 acetyl-CoA metabolic process GO:0006084 9.32 ACACB ACACA
10 malonyl-CoA biosynthetic process GO:2001295 8.96 ACACB ACACA
11 biotin metabolic process GO:0006768 8.92 PCCB PC HLCS BTD

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 PCCB PC HLCS ACACB ACACA
2 identical protein binding GO:0042802 9.71 TNF PC ACACB ACACA
3 catalytic activity GO:0003824 9.62 PC HLCS ACACB ACACA
4 ligase activity GO:0016874 9.55 PCCB PC HLCS ACACB ACACA
5 biotin carboxylase activity GO:0004075 9.26 ACACB ACACA
6 biotin binding GO:0009374 9.13 PC HLCS ACACB
7 acetyl-CoA carboxylase activity GO:0003989 8.8 PCCB ACACB ACACA

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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