Details of Disease | DrugMAP

General Information of Disease (ID: DISHSSLI)

Disease Name	CNGA3-related retinopathy
Synonyms	colorblindness, total; ACHM2; rod monochromatism 2; achromatopsia 2; RMCH2; achromatopsia caused by mutation in CNGA3; CNGA3 achromatopsia; rod monochromacy 2; achromatopsia type 2; CNGA3-related retinopathy
Definition	A retinopathy, typically described as achromatopsia, caused by biallelic variants in the CNGA3 gene.
Disease Hierarchy	DISGGL77: Inherited retinal dystrophy DISHSSLI: CNGA3-related 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
CNGA3	TTW0QOV	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
CNGA3	OTYQ7TYM	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.