Retinitis Pigmentosa 35

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OMIM 57 610282 Disease Ontology 12 DOID:0110357 ICD10 33 H35.5 MedGen 42 C1853214

MeSH 44 D012174 SNOMED-CT via HPO 69 263681008 258211005 28835009 312917007 65956007 65194006 more UMLS 73 C1853214

UniProtKB/Swiss-Prot : ⁷⁵ 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 autoimmune disease of gastrointestinal tract. An important gene associated with Retinitis Pigmentosa 35 is SEMA4A (Semaphorin 4A), and among its related pathways/superpathways is Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include skin, bone and eye, and related phenotypes are rod-cone dystrophy and cone/cone-rod dystrophy

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

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00381-A-1	9.43	CD79A GRP
2	Decreased viability	GR00381-A-3	9.43	CD79A GRP
3	Decreased viability	GR00402-S-2	9.43	CD79A GRP
4	Increased viability	GR00386-A-1	9.1	CD79A GRP HSPA4 MYCL POLD3 SH2B3

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 35

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