Details of Disease | DrugMAP

General Information of Disease (ID: DISDZB3O)

Disease Name	Macular dystrophy with central cone involvement
Synonyms	CCMD; macular dystrophy with central cone involvement
Disease Hierarchy	DIS0XS2C: Age-related macular degeneration DISDZB3O: Macular dystrophy with central cone involvement
Disease Identifiers	MONDO ID MONDO_0014515 UMLS CUI C4015371 OMIM ID 616170 MedGen ID 863808

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MFSD8	OT455EIC	Strong	Autosomal recessive	[1]
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References

1	Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. Ophthalmology. 2015 Jan;122(1):170-9. doi: 10.1016/j.ophtha.2014.07.040. Epub 2014 Sep 13.