Details of Disease | DrugMAP

General Information of Disease (ID: DISY89Y2)

Disease Name	RPE65-related recessive retinopathy
Synonyms	Leber congenital amaurosis caused by mutation in RPE65; RP20; LCA2; amaurosis congenita of Leber 2; amaurosis congenita of Leber II; RPE65 Leber congenital amaurosis; retinitis pigmentosa caused by mutation in RPE65; RPE65 retinitis pigmentosa; retinitis pigmentosa 20; Leber congenital amaurosis type 2; amaurosis congenita of Leber, type 2; Leber congenital amaurosis 2; RPE65-related recessive retinopathy; recessive RPE65 retinopathy
Definition	A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISGGL77: Inherited retinal dystrophy DISY89Y2: RPE65-related recessive 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	Definitive	Autosomal recessive	[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	Definitive	Autosomal recessive	[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.