Details of Disease | DrugMAP

General Information of Disease (ID: DISFFREC)

Disease Name	CNGB3-related retinopathy
Synonyms	ACHM1 (formerly); ACHM1; RMCH1 (formerly); achromatopsia 3; rod monochromatism 1, formerly; achromatopsia type 3; ACHM3; achromatopsia with myopia; total colorblindness with myopia; achromatopsia caused by mutation in CNGB3; CNGB3 achromatopsia; Rod monochromatism 1 (formerly); rod monochromacy 1, formerly; ACHM1, formerly; Rod monochromacy 1 (formerly); RMCH1; rod monochromatism 1; rod monochromacy 1; CNGB3 retinopathy
Definition	A retinopathy caused by biallelic variants in the CNGB3 gene.
Disease Hierarchy	DISLG2RO: Hereditary neuromuscular disease DISI6CLK: Muscular channelopathy DISFFREC: CNGB3-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
CNGB3	TT0LJCG	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
CNGB3	OTGR3KO5	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.