Details of Disease | DrugMAP

General Information of Disease (ID: DIS5FIOZ)

Disease Name	GUCY2D-related dominant retinopathy
Synonyms	choroidal dystrophy, central areolar; central areolar choroidal dystrophy caused by mutation in GUCY2D; retinal cone dystrophy 2; cone-rod dystrophy caused by mutation in GUCY2D; GUCY2D central areolar choroidal dystrophy; cone-rod dystrophy 6; choroidal dystrophy, central areolar, 1; GUCY2D cone-rod dystrophy; RCD2; CORD6; choroidal sclerosis; cone-rod dystrophy type 6; CACD1; dominant GUCY2D retinopathy
Definition	A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene.
Disease Hierarchy	DISGPDU8: GUCY2D retinopathy DIS3HIWD: Autosomal dominant disease DIS5FIOZ: GUCY2D-related dominant 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
GUCY2D	TTWNFC2	Definitive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GUCY2D	OT81UJI0	Definitive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

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.