RETINITIS PIGMENTOSA 39

General Information (adopted from Orphanet):

Synonyms, Signs: RP39
Number of Symptoms 7
OrphanetNr:
OMIM Id: 613809
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:0001123) Visual field defect 30 / 7739
2
(HPO:0000512) Abnormal electroretinogram 61 / 7739
3
(HPO:0000510) Rod-cone dystrophy 266 / 7739
4
(HPO:0007843) Attenuation of retinal blood vessels 25 / 7739
5
(HPO:0007737) Bone spicule pigmentation of the retina 26 / 7739
6
(HPO:0000505) Visual impairment 297 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Rivolta et al. (2002) described a patient with isolated RP who had complete paternal heterodisomy for chromosome 1. Clinical findings were typical, including fundi with attenuated retinal vessels and intraretinal bone spicule pigment around the periphery. Electroretinograms (ERGs) ...
Molecular genetics OMIM The patient described by Rivolta et al. (2000) and Rivolta et al. (2002) with RP and homozygosity for a cys759-to-phe mutation in the USH2A gene (608400.0006) was determined to be completely paternally heterodisomic for chromosome 1 with isodisomic ...