CONE DYSTROPHY 3

General Information (adopted from Orphanet):

Synonyms, Signs: RETINAL CONE DYSTROPHY CONE-ROD DYSTROPHY 14, INCLUDED
CORD14, INCLUDED
COD3
Number of Symptoms 5
OrphanetNr:
OMIM Id: 602093
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000548) Cone/cone-rod dystrophy 47 / 7739
2
(HPO:0000613) Photophobia 158 / 7739
3
(OMIM) Cone dystrophy 2 / 7739
4
(OMIM) Color and central vision loss 1 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Progressive cone dystrophy usually presents in childhood or early adult life, with many patients developing rod photoreceptor involvement in later life, thereby leading to considerable overlap between progressive cone dystrophy and cone-rod dystrophy. Both progressive cone dystrophy and ...
Clinical Description OMIM Payne et al. (1997) described a 4-generation British family with typical clinical features of autosomal dominant cone dystrophy with photophobia, loss of color and central vision, and distinctive electrophysiologic findings.

Payne et al. (1998) further studied ...

Molecular genetics OMIM In the same 4-generation British family, Payne et al. (1998) screened the GUCA1A gene, which encodes a calcium-binding protein that is highly expressed in photoreceptor outer segments, and identified a tyr99-to-cys mutation (Y99C; 600364.0001).

Michaelides et ...