RETINITIS PIGMENTOSA 11

General Information (adopted from Orphanet):

Synonyms, Signs: RP11
Number of Symptoms 5
OrphanetNr:
OMIM Id: 600138
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:0007401) Macular atrophy rare [HPO:skoehler] 14 / 7739
2
(HPO:0000510) Rod-cone dystrophy 266 / 7739
3
(HPO:0003829) Incomplete penetrance 85 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(HPO:0040049) Macular edema rare [HPO:skoehler] 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal dystrophies characterized by a progressive degeneration of photoreceptors, eventually resulting in severe visual impairment.

For a discussion of genetic heterogeneity of RP, see 268000. ...

Molecular genetics OMIM Al-Maghtheh et al. (1998) found a missense change (arg659 to ser) in the PRKCG gene (176980) in 2 families with RP11-linked dominant RP. The PRKCG gene encodes a form of protein kinase C that is expressed in the ...