Details of Disease | DrugMAP

General Information of Disease (ID: DISWZQ2C)

Disease Name	RDH5-related retinopathy
Synonyms	retinitis punctata albescens; pigmentary retinal dystrophy; fundus albipunctatus; RDH5 retinopathy
Definition	A retinopathy caused by bialleleic variants in the RDH5 gene, often involving flecks in the retina.
Disease Hierarchy	DISGGL77: Inherited retinal dystrophy DISWZQ2C: RDH5-related retinopathy

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
RDH5	DESI4OK	Definitive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RDH5	OTYBZHCC	Definitive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

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.