Details of Disease | DrugMAP

General Information of Disease (ID: DISB2MOW)

Disease Name	RDH12-related recessive retinopathy
Synonyms	retinitis pigmentosa 53; Leber congenital amaurosis 13; Leber congenital amaurosis caused by mutation in RDH12; LCA13; Leber congenital amaurosis type 13; RDH12 Leber congenital amaurosis; RDH12-related recessive retinopathy
Definition	A retinopathy, typically severe, and early onset, caused by biallelic variants in the RDH12 gene.
Disease Hierarchy	DISGGL77: Inherited retinal dystrophy DISB2MOW: RDH12-related recessive retinopathy

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
RDH12	OTELFRRJ	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.