Details of Disease

General Information of Disease (ID: DISB3WKM)

Disease Name Achromatopsia 7
Synonyms ATF6 achromatopsia; achromatopsia type 7; ACHM7; achromatopsia caused by mutation in ATF6; achromatopsia 7
Definition Any achromatopsia in which the cause of the disease is a mutation in the ATF6 gene.
Disease Hierarchy
DIS9LAND: ATF6-related retinopathy
DISKL51I: Achromatopsia
DISB3WKM: Achromatopsia 7
Disease Identifiers
MONDO ID
MONDO_0014677
UMLS CUI
C4225297
OMIM ID
616517
MedGen ID
904646

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]
------------------------------------------------------------------------------------

References

1 Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene. Eur J Hum Genet. 2017 Nov;25(11):1210-1216. doi: 10.1038/ejhg.2017.131. Epub 2017 Aug 16.