Details of Disease | DrugMAP

General Information of Disease (ID: DISX6152)

Disease Name	Biotin metabolic disease
Definition	A deficiency in biotin through either inherited or acquired causes.
Disease Hierarchy	DISTVTFI: Disorder of organic acid metabolism DIS71G5H: Metabolic disorder DIS26UGB: Sulfur metabolism disease DISX6152: Biotin metabolic disease
Disease Identifiers	MONDO ID MONDO_0020699 UMLS CUI C2937225 MedGen ID 754289 SNOMED CT ID 49607006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC5A6	TT61XTV	Strong	Genetic Variation	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BTD	OTJYTQ69	Limited	Biomarker	[2]
HLCS	OTPDUX30	Limited	Altered Expression	[3]
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References

1	Tamoxifen-induced, intestinal-specific deletion of Slc5a6 in adult mice leads to spontaneous inflammation: involvement of NF-B, NLRP3, and gut microbiota.Am J Physiol Gastrointest Liver Physiol. 2019 Oct 1;317(4):G518-G530. doi: 10.1152/ajpgi.00172.2019. Epub 2019 Aug 1.
2	Biotin: overview of the treatment of diseases of cutaneous appendages and of hyperseborrhea.G Ital Dermatol Venereol. 2019 Oct;154(5):557-566. doi: 10.23736/S0392-0488.19.06434-4.
3	Paradoxical regulation of biotin utilization in brain and liver and implications for inherited multiple carboxylase deficiency.J Biol Chem. 2004 Dec 10;279(50):52312-8. doi: 10.1074/jbc.M407056200. Epub 2004 Sep 28.