RETINITIS PIGMENTOSA 12

General Information (adopted from Orphanet):

Synonyms, Signs: RP WITH OR WITHOUT PPRPE
RP WITH OR WITHOUT PRESERVED PARAARTERIOLE RETINAL PIGMENT EPITHELIUM
RETINITIS PIGMENTOSA WITH OR WITHOUT PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM
RP12
Number of Symptoms 4
OrphanetNr:
OMIM Id: 600105
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:0000510) Rod-cone dystrophy 266 / 7739
2
(OMIM) No retinal pigment epithelium in some 1 / 7739
3
(OMIM) Paraarteriolar preservation of retinal pigment epithelium 1 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Heckenlively (1982) described 5 patients with retinitis pigmentosa of probable autosomal recessive inheritance who showed relative preservation of retinal pigment epithelium adjacent to and under retinal arterioles and hypermetropia (RP patients tend to be myopic). Affected sibs and ...
Molecular genetics OMIM Den Hollander et al. (1999) cloned a protein homologous to the protein 'crumbs' (CRB) of Drosophila melanogaster that they denoted CRB1 (crumbs homolog-1; 604210). In 10 unrelated RP12 patients, they identified a homozygous AluY insertion disrupting the open ...