CONE-ROD DYSTROPHY 17

General Information (adopted from Orphanet):

Synonyms, Signs: CORD17
Number of Symptoms 10
OrphanetNr:
OMIM Id: 615163
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:0000603) Central scotoma 18 / 7739
3
(HPO:0000613) Photophobia 158 / 7739
4
(HPO:0000543) Optic disc pallor 67 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Reduced photopic and scotopic responses on electroretinography 1 / 7739
7
(OMIM) Narrowing of retinal vessels 3 / 7739
8
(OMIM) Atrophy of retinal pigment epithelium 2 / 7739
9
(OMIM) Scattered bone-spicule pigmentation in midperiphery 1 / 7739
10
(OMIM) Gradual visual impairment 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kamenarova et al. (2013) studied a 3-generation Romani family segregating autosomal dominant cone-rod dystrophy with a slightly variable but early age of onset, at around 10 years of age. Affected individuals had gradual visual impairment and photophobia; ophthalmoscopy ...
Molecular genetics OMIM In a 3-generation Romani family segregating autosomal dominant cone-rod dystrophy (adCORD) mapping to chromosome 10q26, Kamenarova et al. (2013) screened key positional candidate genes but found no pathogenic variants, and high-density oligonucleotide-based array CGH revealed no chromosomal aberration, ...