Details of Disease | DrugMAP

General Information of Disease (ID: DISW4F1S)

Disease Name	RPE65-related dominant retinopathy
Synonyms	retinitis pigmentosa 87 with choroidal involvement; RP87; dominant RPE65 retinopathy
Definition	A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene.
Disease Hierarchy	DISGGL77: Inherited retinal dystrophy DIS3HIWD: Autosomal dominant disease DISW4F1S: RPE65-related dominant retinopathy

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
RPE65	TTBOH16	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RPE65	OTHS41XM	Strong	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.