Details of Disease

General Information of Disease (ID: DISNS9U8)

Disease Name Cone-rod dystrophy 6
Synonyms retinal cone dystrophy 2; cone-rod dystrophy caused by mutation in GUCY2D; cone-rod dystrophy 6; GUCY2D cone-rod dystrophy; RCD2; CORD6; cone-rod dystrophy type 6
Definition Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.
Disease Hierarchy
DISY9RWN: Cone-rod dystrophy
DISGPDU8: GUCY2D retinopathy
DISNS9U8: Cone-rod dystrophy 6
Disease Identifiers
MONDO ID
MONDO_0011143
MESH ID
C538363
UMLS CUI
C1866293
OMIM ID
601777
MedGen ID
400963

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GUCY2D TTWNFC2 Limited Biomarker [1]
GUCY2D TTWNFC2 Strong Autosomal dominant [2]
------------------------------------------------------------------------------------
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GNAT2 OTD9Y4UH Strong Genetic Variation [3]
GUCY2D OT81UJI0 Strong Autosomal dominant [2]
------------------------------------------------------------------------------------

References

1 Possible dual contribution of a novel GUCY2D mutation in the development of retinal degeneration in a consanguineous population.Eur J Med Genet. 2020 Mar;63(3):103750. doi: 10.1016/j.ejmg.2019.103750. Epub 2019 Aug 27.
2 Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy. Hum Mol Genet. 2000 Dec 12;9(20):3065-73. doi: 10.1093/hmg/9.20.3065.
3 Transgenic zebrafish expressing mutant human RETGC-1 exhibit aberrant cone and rod morphology.Exp Eye Res. 2013 Mar;108:120-8. doi: 10.1016/j.exer.2013.01.003. Epub 2013 Jan 15.