RETINITIS PIGMENTOSA 42

General Information (adopted from Orphanet):

Synonyms, Signs: RP42
Number of Symptoms 11
OrphanetNr:
OMIM Id: 612943
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:0000980) Pallor 52 / 7739
3
(OMIM) Retinitis pigmentosa, late-onset form 1 / 7739
4
(OMIM) Waxy optic pallor 1 / 7739
5
(OMIM) Strong retention of foveal function 1 / 7739
6
(OMIM) Bone spicule pigmentation 2 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(OMIM) Loss of peripheral retinal tissue 1 / 7739
9
(OMIM) Arteriolar attenuation 1 / 7739
10
(OMIM) Concentric constriction of visual fields bilaterally 1 / 7739
11
(OMIM) Sparing of far periphery 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Andreasson (1991) studied 26 affected and 6 unaffected members of 4 families from central Norway and Sweden segregating autosomal dominant retinitis pigmentosa. Although fundus examination was similar in patients from all 4 families, showing narrowed vessels and bone ...
Molecular genetics OMIM In a large 6-generation Scandinavian family with a slow-progressing retinopathy mapping to chromosome 7p15, previously studied by Andreasson (1991) (family 72), Friedman et al. (2009) screened several candidate genes and identified a heterozygous mutation in the KLHL7 gene ...