Retinitis Pigmentosa 74 (RP74)

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Disease Ontology 12 DOID:0110401 OMIM® 57 616562 OMIM Phenotypic Series 57 PS268000 MeSH 44 D012174

ICD10 32 H35.5 MedGen 41 C4225281 CN232915 SNOMED-CT via HPO 68 1151008 258211005 267628004 28835009 302200001 more

UniProtKB/Swiss-Prot : ⁷³ Retinitis pigmentosa 74: 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 74, also known as rp74, is related to bardet-biedl syndrome 19 and retinitis pigmentosa 71. An important gene associated with Retinitis Pigmentosa 74 is BBS2 (Bardet-Biedl Syndrome 2). Affiliated tissues include eye and retina, and related phenotypes are rod-cone dystrophy and optic disc pallor

Disease Ontology : ¹² A retinitis pigmentosa that has material basis in mutation in the BBS2 gene on chromosome 16q13.

More information from OMIM: 616562 PS268000

Clinical features from OMIM®:

616562 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 74

Search GEO for disease gene expression data for Retinitis Pigmentosa 74.