PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 Biomarker disease BEFREE Linkage to the UCLA-RP09 disease gene was excluded for all eight candidate genes analyzed, including rhodopsin (RP4) and peripherin/RDS (RP7), for the four adRP loci RP1, RP9, RP10 and RP11, as well as for 17 phenotypic markers. 8571961 1996
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		0.750 GeneticVariation disease BEFREE To assess the frequency of peripherin/RDS mutations in the clinically heterogeneous group of AVMD, we analyzed the entire coding region of the gene in 28 unrelated patients. 9338584 1997
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		0.750 GeneticVariation disease BEFREE Patients with AVMD carried a PRPH2 mutation in 10.5% of cases and did not carry a BEST1 mutation. 21269699 2011
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		0.750 GeneticVariation disease BEFREE To describe an Italian family in which two separate phenotypes (retinitis pigmentosa and adult onset vitelliform macular dystrophy) are associated with an identical mutation (S212G) in the peripherin/RDS gene. 18050133 2008
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		0.750 GeneticVariation disease BEFREE We describe a frameshift null mutation in the RDS/Peripherin gene associated with a relatively severe manifestation of adult-onset foveomacular dystrophy in affected family members. 12566026 2003
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		0.750 Biomarker disease BEFREE Mutations in the genes encoding peripherin/RDS and VMD2 have been previously reported in some subjects with AVMD. 16885924 2006
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.540 Biomarker disease BEFREE To screen for mutations in the rhodopsin, peripherin/RDS, and ROM1 genes in a family affected with retinitis punctata albescens. 8554077 1996
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.540 GeneticVariation disease BEFREE Mutations of the peripherin/RDS gene have been reported in autosomal dominant retinitis pigmentosa, pattern macular dystrophy, and retinitis punctata albescens. 8240110 1993
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.540 GeneticVariation disease BEFREE In this report we studied one sporadic type retinitis punctata albescens patient with the assumption that mutation in the peripherin/RDS gene could contribute to the disease phenotype. 9070228 1997
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.540 GeneticVariation disease BEFREE A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. 8485575 1993
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.430 Biomarker disease BEFREE Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis. 21269699 2011
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.430 GeneticVariation disease BEFREE The database of a national referral center specialized in genetic sensory diseases was screened for patients with a macular vitelliform dystrophy without identified mutation or small deletion or large rearrangement in BEST1 and PRPH2 genes.Forty-nine families were included. 25085631 2014
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.430 GeneticVariation disease BEFREE Five of 14 known SNPs (rs835, rs361524, rs434102, rs425876, rs390659) in exon 3 of PRPH2 were identified in AFVD patients. 26849151 2016
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis 		0.380 GeneticVariation disease BEFREE A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy. 7493155 1995
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis 		0.380 Biomarker disease BEFREE The differential diagnosis includes PRPH2-associated CACD and age-related macular degeneration. 31387115 2019
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis 		0.380 GeneticVariation disease BEFREE High-Resolution Adaptive Optics Retinal Image Analysis at Early Stage Central Areolar Choroidal Dystrophy With PRPH2 Mutation. 27977834 2016
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis 		0.380 Biomarker disease BEFREE Linkage analysis and mutational screening exclude linkage to the PRPH2/RDS gene and to the CACD locus. 19696794 2009
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis 		0.380 GeneticVariation disease BEFREE DNA sequence analysis of the peripherin/RDS gene was performed in four sporadic cases and in ten affected and nine unaffected individuals from seven families with autosomal dominant central areolar choroidal dystrophy. 8644804 1996
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis 		0.380 GeneticVariation disease BEFREE CACD macular dystrophy is associated with dominant drusen in most individuals carrying the Arg142Trp mutation in the peripherin/RDS gene in the three families described. 11801511 2002
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis 		0.380 GeneticVariation disease BEFREE Age of onset, progression of the disease, and characteristic fundus abnormalities share similarities to previous reports on families with central areolar choroidal dystrophy associated with peripherin/RDS gene mutations in codons 172, 142, and 195, respectively. 16832026 2006
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis 		0.380 GeneticVariation disease BEFREE In three (1.4%) of 218 cases we identified a pathogenic heterozygous variant (PRPH2 c.424C > T; p.R142W) causal for autosomal dominant central areolar choroidal dystrophy (CACD). 30215852 2018
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.340 GeneticVariation phenotype BEFREE A novel p.Trp94X mutation in RDS was found in all three affected members of a two-generation family that was associated with retinitis pigmentosa in the son, pattern dystrophy in the daughter and fundus flavimaculatus in the mother. 16916875 2007
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.340 Biomarker phenotype BEFREE Mutations in the ATP-binding cassette, subfamily A, member 4 (ABCA4), elongation of very long chain fatty acids 4 (ELOVL4) and peripherin-2 (PRPH2) genes have been identified in patients with Stargardt macular degeneration (STGD). 22948568 2012
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.340 GeneticVariation phenotype BEFREE Mutations in the peripherin/RDS gene are the major cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus. 17504850 2007
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.340 GeneticVariation phenotype BEFREE Peripherin 2 (Prph2) is a photoreceptor tetraspanin, and deletion of codon 153 (K153Δ) leads to retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in the same family. 27365499 2016