Details of Disease | DrugMAP

General Information of Disease (ID: DISI2JHV)

Disease Name	Oculocutaneous albinism type 4
Synonyms	oculocutaneous albinism type IV; albinism, oculocutaneous, type 4; oculocutaneous albinism, type 4; albinism, oculocutaneous, type IV; oculocutaneous albinism caused by mutation in SLC45A2; OCA4; SLC45A2 oculocutaneous albinism
Definition	Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.
Disease Hierarchy	DISJS7CU: Oculocutaneous albinism DISI2JHV: Oculocutaneous albinism type 4
Disease Identifiers	MONDO ID MONDO_0011683 MESH ID C564696 UMLS CUI C1847836 OMIM ID 606574 MedGen ID 338324 Orphanet ID 79435 SNOMED CT ID 715632003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC45A2	DTNCJAT	Limited	Genetic Variation	[1]
SLC45A2	DTNCJAT	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC45A2	OTNZ268J	Definitive	Autosomal recessive	[2]
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References

1	A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4.Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):1008-1016. doi: 10.1167/iovs.16-20612.
2	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.