RETINITIS PIGMENTOSA 33

General Information (adopted from Orphanet):

Synonyms, Signs: RP33
Number of Symptoms 8
OrphanetNr:
OMIM Id: 610359
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:0000510) Rod-cone dystrophy 266 / 7739
2
(HPO:0007737) Bone spicule pigmentation of the retina 19878916 IBIS 26 / 7739
3
(HPO:0000662) Nyctalopia 19878916 IBIS 92 / 7739
4
(HPO:0000543) Optic disc pallor 19878916 IBIS 67 / 7739
5
(HPO:0000505) Visual impairment 19878916 IBIS 297 / 7739
6
(HPO:0007722) Retinal pigment epithelial atrophy 10 / 7739
7
(HPO:0007843) Attenuation of retinal blood vessels 19878916 IBIS 25 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Zhao et al. (2006) reported a Chinese family in which 13 members spanning 4 generations developed retinitis pigmentosa in an autosomal dominant pattern of inheritance. Affected individuals developed night blindness at about 16 to 18 years of age. ...
Molecular genetics OMIM In a 4-generation Chinese family with adRP mapping to chromosome 2cen-q12.1, previously studied by Zhao et al. (2006), Zhao et al. (2009) analyzed the candidate gene SNRNP200 and identified a heterozygous missense mutation (S1087L; 601664.0001) that segregated fully ...