CONE-ROD DYSTROPHY 3

General Information (adopted from Orphanet):

Synonyms, Signs: CORD3
Number of Symptoms 4
OrphanetNr:
OMIM Id: 604116
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000572) Visual loss 272 / 7739
2
(HPO:0000548) Cone/cone-rod dystrophy 47 / 7739
3
(HPO:0000551) Abnormality of color vision 20 / 7739
4
(HPO:0000603) Central scotoma 18 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Klevering et al. (2002) analyzed phenotype information from the charts of 12 patients with autosomal recessive CORD caused by mutations in the ABCA4 gene and found that although the clinical presentation was heterogeneous, all patients experienced visual loss ...
Molecular genetics OMIM Cremers et al. (1998) analyzed the ABCA4 gene in a consanguineous family with RP and CORD and identified homozygosity for a 5-prime splice site mutation in intron 30 (601691.0009) in the 4 RP patients; the 5 patients with ...