Details of Disease | DrugMAP

General Information of Disease (ID: DISR72NR)

Disease Name	GUCY2D-related recessive retinopathy
Synonyms	amaurosis congenita of Leber I; Leber congenital amaurosis type 1; retinal cone dystrophy 2; cone-rod dystrophy caused by mutation in GUCY2D; Leber congenital amaurosis 1; GUCY2D Leber congenital amaurosis; Leber congenital amaurosis caused by mutation in GUCY2D; CRB; amaurosis congenita of Leber 1; cone-rod dystrophy 6; LCA; night blindness, congenital stationary, type 1I; GUCY2D cone-rod dystrophy; RCD2; amaurosis congenita of Leber, type 1; LCA1; retinal blindness, congenital; CORD6; cone-rod dystrophy type 6; recessive GUCY2D retinopathy
Definition	A retinopathy caused by biallelic variants in the GUCY2D gene.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISGPDU8: GUCY2D retinopathy DISR72NR: GUCY2D-related recessive 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 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
GUCY2D	OT81UJI0	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.