RETINITIS PIGMENTOSA 13

General Information (adopted from Orphanet):

Synonyms, Signs: RP13
Number of Symptoms 9
OrphanetNr:
OMIM Id: 600059
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:0000546) Retinal degeneration 61 / 7739
2
(HPO:0011505) Cystoid macular edema rare [HPO:skoehler] 8 / 7739
3
(HPO:0000662) Nyctalopia 92 / 7739
4
(HPO:0000510) Rod-cone dystrophy 266 / 7739
5
(HPO:0007894) Hypopigmentation of the fundus 14 / 7739
6
(HPO:0001133) Constriction of peripheral visual field 33 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(OMIM) Midequatorial fundus pigmentation 1 / 7739
9
(OMIM) Retinitis pigmentosa type I(D) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The family with autosomal dominant retinitis pigmentosa (adRP) studied by Greenberg et al. (1994) was of British stock. The great-grandfather came to South Africa from Suffolk, England, in the mid-1800s. The onset of night blindness was between 4 ...
Molecular genetics OMIM Using a positional cloning and candidate gene strategy, McKie et al. (2001) identified 7 different missense mutations in the PRPF8 splicing factor gene (607300) in autosomal dominant RP families. Three of the mutations cosegregated within 3 RP13 linked ...