RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 180210
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:0007736) Pericentral retinal dystrophy 1 / 7739
2
 (HPO:0007737) Bone spicule pigmentation of the retina 26 / 7739
3
 (HPO:0000662) Nyctalopia 92 / 7739
4
 (HPO:0000618) Blindness 124 / 7739
5
 (HPO:0001105) Retinal atrophy 10 / 7739
6
 (HPO:0001146) Pigmentary retinal degeneration 15 / 7739
7
 (HPO:0007843) Attenuation of retinal blood vessels 25 / 7739
8
 (HPO:0000556) Retinal dystrophy 65 / 7739
9
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
 (OMIM) Late blindness 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: