CONE-ROD DYSTROPHY 7

General Information (adopted from Orphanet):

Synonyms, Signs: CORD7
Number of Symptoms 6
OrphanetNr:
OMIM Id: 603649
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:0011504) Bull's eye maculopathy 8 / 7739
3
(HPO:0012045) Retinal flecks 6 / 7739
4
(HPO:0000551) Abnormality of color vision 20 / 7739
5
(HPO:0000505) Visual impairment 297 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kelsell et al. (1998) described a 4-generation British family with autosomal dominant cone-rod dystrophy. Affected members first became aware of reduced color vision and visual acuity between the ages of 20 and 40 years. As the disorder progressed, ...
Molecular genetics OMIM In 6 affected members of the 4-generation British family with CORD7, previously described by Kelsell et al. (1998), Johnson et al. (2003) identified heterozygosity for a missense mutation in the RIMS1 gene (606629.0001). The mutation was not found ...