Details of Disease | DrugMAP

General Information of Disease (ID: DISP5MQC)

Disease Name	Hereditary hypercarotenemia and vitamin A deficiency
Synonyms	Carotenoids, plasma level of, quantitative trait locus 1; HCVAD; hypercarotenemia and vitamin A deficiency, autosomal dominant
Definition	Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.
Disease Hierarchy	DISCZESG: Disorder of vitamin and non-protein cofactor absorption and transport DISP5MQC: Hereditary hypercarotenemia and vitamin A deficiency
Disease Identifiers	MONDO ID MONDO_0007272 MESH ID C567296 UMLS CUI C2676023 OMIM ID 115300 MedGen ID 393944 Orphanet ID 199285

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
BCO1	DE6BOK3	Supportive	Autosomal dominant	[1]
BCO1	DE6BOK3	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BCO1	OTZKQTCL	Supportive	Autosomal dominant	[1]
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References

1	Loss-of-function mutation in carotenoid 15,15'-monooxygenase identified in a patient with hypercarotenemia and hypovitaminosis A. J Nutr. 2007 Nov;137(11):2346-50. doi: 10.1093/jn/137.11.2346.