Details of Disease | DrugMAP

General Information of Disease (ID: DIS9LAND)

Disease Name	ATF6-related retinopathy
Synonyms	ATF6 achromatopsia; achromatopsia type 7; ACHM7; achromatopsia caused by mutation in ATF6; achromatopsia 7; ATF6-related retinopathy; ATF6 retinopathy
Definition	A retinopathy caused by biallelic variants in the AFT6 gene.
Disease Hierarchy	DISGGL77: Inherited retinal dystrophy DIS9LAND: ATF6-related 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
ATF6	OTAFHAVI	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.