Details of Disease | DrugMAP

General Information of Disease (ID: DISVVH65)

Disease Name	Oculocutaneous albinism type 7
Synonyms	albinism, oculocutaneous, type VII; albinism, oculocutaneous, type 7; oculocutaneous albinism type VII; LRMDA oculocutaneous albinism; OCA7; oculocutaneous albinism caused by mutation in LRMDA
Definition	Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.
Disease Hierarchy	DISJS7CU: Oculocutaneous albinism DISVVH65: Oculocutaneous albinism type 7
Disease Identifiers	MONDO ID MONDO_0014070 UMLS CUI C3808786 OMIM ID 615179 MedGen ID 815116 Orphanet ID 352745 SNOMED CT ID 722059002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC24A5	DTAWCS9	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LRMDA	OTIPNKTU	Strong	Autosomal recessive	[2]
SLC24A5	OTJIT7FJ	Definitive	Autosomal recessive	[1]
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References

1	Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. J Invest Dermatol. 2013 Jul;133(7):1834-40. doi: 10.1038/jid.2013.49. Epub 2013 Jan 30.
2	Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. Am J Hum Genet. 2013 Mar 7;92(3):415-21. doi: 10.1016/j.ajhg.2013.01.006. Epub 2013 Feb 7.