RETINITIS PIGMENTOSA 31

General Information (adopted from Orphanet):

Synonyms, Signs: RP31
Number of Symptoms 6
OrphanetNr:
OMIM Id: 609923
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:0000512) Abnormal electroretinogram Frequent [HPO:probinson] 17924349 IBIS 61 / 7739
2
(HPO:0000510) Rod-cone dystrophy 266 / 7739
3
(HPO:0007843) Attenuation of retinal blood vessels 17924349 IBIS 25 / 7739
4
(HPO:0001123) Visual field defect Frequent [HPO:probinson] 17924349 IBIS 30 / 7739
5
(HPO:0007722) Retinal pigment epithelial atrophy 10 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Papaioannou et al. (2005) examined 14 members of a French Canadian family segregating early-onset retinitis pigmentosa in an autosomal dominant fashion. Onset of symptoms ranged from 10 to 50 years of age and differed between the generations. Visual ...
Molecular genetics OMIM By sequencing genes located in the region of 9p21.1 identified as the critical region containing the RP31 gene, Chakarova et al. (2007) identified 2 distinct heterozygous frameshift mutations in 2 independent families in the TOPORS gene (609507). The ...