RETINITIS PIGMENTOSA 14

General Information (adopted from Orphanet):

Synonyms, Signs: RP14
Number of Symptoms 2
OrphanetNr:
OMIM Id: 600132
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT

Symptom Information: Sort by abundance 

1
(HPO:0000510) Rod-cone dystrophy 266 / 7739
2
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

TULP1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Mutations in the PRPH2 gene cause autosomal dominant retinitis pigmentosa as well as other forms of macular dystrophy and retinopathy. Knowles et al. (1994) used a mononucleotide repeat polymorphism in the peripherin gene to show that PRPH2 was not ...