RETINITIS PIGMENTOSA 44

General Information (adopted from Orphanet):

Synonyms, Signs: RP44
Number of Symptoms 7
OrphanetNr:
OMIM Id: 613769
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:0001133) Constriction of peripheral visual field 33 / 7739
2
(HPO:0000510) Rod-cone dystrophy 266 / 7739
3
(HPO:0000505) Visual impairment 297 / 7739
4
(HPO:0007843) Attenuation of retinal blood vessels 25 / 7739
5
(HPO:0007722) Retinal pigment epithelial atrophy 10 / 7739
6
(HPO:0000654) Decreased light- and dark-adapted electroretinogram amplitude 17 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Using a single-strand conformation technique, Morimura et al. (1999) searched for mutations in the exons and flanking intron sequences of RGR in 182 unrelated patients with dominantly inherited retinitis pigmentosa, 182 with recessive retinitis pigmentosa, 383 with simplex ...
Molecular genetics OMIM In affected members of families with autosomal recessive and autosomal dominant RP, Morimura et al. (1999) detected homozygous and heterozygous mutations, respectively, in the RGR gene. The 5 affected sibs with autosomal recessive inheritance carried a missense mutation ...