Retinitis Pigmentosa 35 (RP35)

External Ids:

Disease Ontology 12 DOID:0110357 OMIM 58 610282 MeSH 45 D012174 ICD10 34 H35.5

MedGen 43 C1853214 SNOMED-CT via HPO 70 258211005 263681008 28835009 312917007 65194006 65956007 more UMLS 74 C1853214

UniProtKB/Swiss-Prot : ⁷⁶ Retinitis pigmentosa 35: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

MalaCards based summary : Retinitis Pigmentosa 35, also known as rp35, is related to retinitis pigmentosa and giant congenital nevus. An important gene associated with Retinitis Pigmentosa 35 is SEMA4A (Semaphorin 4A), and among its related pathways/superpathways are T cell receptor signaling pathway and Human T-cell leukemia virus 1 infection. Affiliated tissues include skin, bone and eye, and related phenotypes are blindness and nyctalopia

Disease Ontology : ¹² A retinitis pigmentosa that has material basis in mutation in the SEMA4A gene on chromosome 1q22.

Description from OMIM: 610282

Clinical features from OMIM:

610282

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 35

Search GEO for disease gene expression data for Retinitis Pigmentosa 35.