Details of Disease

General Information of Disease (ID: DISIY8O9)

Disease Name Achromatopsia 4
Synonyms achromatopsia 4; achromatopsia caused by mutation in GNAT2; GNAT2 achromatopsia; ACHM4; achromatopsia type 4
Definition Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene.
Disease Hierarchy
DISD8D6I: GNAT2-related retinopathy
DISKL51I: Achromatopsia
DISIY8O9: Achromatopsia 4
Disease Identifiers
MONDO ID
MONDO_0013465
UMLS CUI
C1841721
OMIM ID
613856
MedGen ID
330669

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
GNAT2 OTD9Y4UH Definitive Autosomal recessive [1]
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References

1 Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene. Hum Mutat. 2019 Aug;40(8):1145-1155. doi: 10.1002/humu.23768. Epub 2019 May 6.