Cone-rod dystrophy, X-linked, 3; CORDX3

Disease ID:241
Name:Cone-rod dystrophy, X-linked, 3; CORDX3
Associated with:1 targets
0 immuno-relevant targets
0 immuno-relevant ligands
Synonyms
Cone rod dystrophy
Database Links
Disease Ontology: DOID:0050572
OMIM: 300476
Orphanet: ORPHA1872

Targets

Cav1.4
Role:  Progressive retinal disease; abnormal cone or cone-rod responses in ERG; mainly cone photoreceptor dysfunction. with diminished visual acuity, myopia, central scotomas, photophobia, impaired colour vision
Comments:  Affected individuals experience diminished visual acuity, myopia, central scotomas, photophobia, impaired colour vision
References:  1
Mutations:  Cav1.4 is associated with 1 mutation. Click here for details

Ligands

No ligand related data available for Cone-rod dystrophy, X-linked, 3; CORDX3

References

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1. Jalkanen R, Mäntyjärvi M, Tobias R, Isosomppi J, Sankila EM, Alitalo T, Bech-Hansen NT. (2006) X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. J. Med. Genet., 43 (8): 699-704. [PMID:16505158]