CONE-ROD DYSTROPHY 5

General Information (adopted from Orphanet):

Synonyms, Signs: CORD5
Number of Symptoms 7
OrphanetNr:
OMIM Id: 600977
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:0000608) Macular degeneration 17377520 IBIS 36 / 7739
3
(HPO:0000551) Abnormality of color vision 20 / 7739
4
(HPO:0007663) Reduced visual acuity 100 / 7739
5
(HPO:0000613) Photophobia 158 / 7739
6
(OMIM) Cone dystrophy. Progressive central vision loss. Defective color vision. Photophobia. 1 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Cone dystrophy affects the function of the retinal cones and is manifested as progressive loss of central vision, defective color vision, and photophobia. Kohn et al. (2007) examined members of a 5-generation Swedish family with cone dystrophy originally ...
Molecular genetics OMIM In 2 multigenerational Swedish families with cone dystrophy mapping to chromosome 17p13, 1 of which was the family previously reported by Balciuniene et al. (1995), Kohn et al. (2007) sequenced the candidate gene PITPNM3 (608921) and identified heterozygosity ...