CONE-ROD DYSTROPHY 10

General Information (adopted from Orphanet):

Synonyms, Signs: CORD10
Number of Symptoms 16
OrphanetNr:
OMIM Id: 610283
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000529) Progressive visual loss 54 / 7739
2
 (HPO:0000662) Nyctalopia 92 / 7739
3
 (HPO:0000510) Rod-cone dystrophy 266 / 7739
4
 (HPO:0000548) Cone/cone-rod dystrophy 47 / 7739
5
 (HPO:0000608) Macular degeneration 36 / 7739
6
 (HPO:0009926) Increased lacrimation 8 / 7739
7
 (HPO:0000613) Photophobia 158 / 7739
8
 (HPO:0001000) Abnormality of skin pigmentation 105 / 7739
9
 (OMIM) Epiphora, severe 1 / 7739
10
 (OMIM) Loss of color vision, progressive 1 / 7739
11
 (OMIM) Loss of peripheral vision 2 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
 (OMIM) Retinal pigmentation, peripheral 1 / 7739
14
 (OMIM) Photophobia, severe 1 / 7739
15
 (OMIM) Granular fundus 1 / 7739
16
 (OMIM) Loss of visual acuity, progressive 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Abid et al. (2006) screened 135 Pakistani patients with retinitis pigmentosa (RP35; 610282), 25 with cone-rod dystrophy, and 30 with congenital blindness for mutations in the SEMA4A gene. They identified compound heterozygosity for 2 substitutions (607292.0001-607292.0002) in 2 ...