RETINITIS PIGMENTOSA 9

General Information (adopted from Orphanet):

Synonyms, Signs: RP9
Number of Symptoms 9
OrphanetNr:
OMIM Id: 180104
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:0007688) Undetectable light- and dark-adapted electroretinogram 9 / 7739
2
(HPO:0000518) Cataract rare [HPO:skoehler] 454 / 7739
3
(HPO:0000510) Rod-cone dystrophy 266 / 7739
4
(HPO:0007737) Bone spicule pigmentation of the retina 26 / 7739
5
(HPO:0007401) Macular atrophy rare [HPO:skoehler] 14 / 7739
6
(HPO:0001133) Constriction of peripheral visual field 33 / 7739
7
(HPO:0000662) Nyctalopia 92 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
(HPO:0040049) Macular edema rare [HPO:skoehler] 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Because expanded tracts of (CAG)n had been found in certain genes as the cause of neurodegenerative disease, Keen et al. (1997) sought evidence of (CAG)n expansions as the cause of disease in a panel of 8 autosomal dominant ...