PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: Retinitis Pigmentosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 GeneticVariation disease BEFREE RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function. 8045710 1994
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 GeneticVariation disease BEFREE Moreover, heterozygous mutations in ROM1 on 11q13, in combination with heterozygous mutations in RDS on 6p21.1-cen, cause digenic RP (the two-locus mechanism). 11559856 2001
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 GeneticVariation disease CLINVAR Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree. 8449524 1993
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 GeneticVariation disease BEFREE Multiple PRPH2/RDS disease-causing mutations have been found in humans, and they are associated with various blinding diseases of the retina such as macular degeneration and retinitis pigmentosa, the vast majority of which are inherited dominantly, though recessive LCA and digenic RP have also been associated with RDS mutations. 26773759 2016
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 GeneticVariation disease BEFREE Mutations in peripherin 2 (PRPH2, also known as Rds), a tetraspanin protein found in photoreceptor outer segments (OSs), cause retinal degeneration ranging from rod-dominant retinitis pigmentosa (RP) to cone-dominant macular dystrophy (MD). 29961824 2018
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 GeneticVariation disease LHGDN 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: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 GeneticVariation disease BEFREE Furthermore, we identified numerous mutations in autosomal dominant (PRPF31, PRPH2, CRX) and X-linked (RPGR) RP genes in patients with sporadic RP. 30543658 2018
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 GeneticVariation disease BEFREE Combination of retinitis pigmentosa and hearing loss caused by a novel mutation in PRPH2 and a known mutation in GJB2: importance for differential diagnosis of Usher syndrome. 22842402 2012
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 GeneticVariation disease BEFREE Finally, we demonstrate that the p.G266D retinitis pigmentosa mutation found within TM4 selectively abolishes the binding of peripherin-2 to rhodopsin. 24963162 2014
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 GeneticVariation disease BEFREE The authors found mutations in the RDS gene as a cause of dominant or digenic RP and mutations in the ROM1 gene as a cause of digenic RP. 9331261 1997
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 Biomarker disease BEFREE These data show that ablation of Rom1 results in the conversion of an MD/PD phenotype characterized by cone functional defects and the formation of abnormal Prph2/Rom1 complexes to an RP phenotype characterized by rod-dominant functional defects and reductions in total Prph2 protein. 28053051 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 GeneticVariation disease BEFREE A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. 1749427 1991
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 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: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 GeneticVariation disease BEFREE An overview is presented of the broad spectrum of clinical phenotypes caused by human peripherin/RDS gene mutations, ranging from various macular dystrophies to widespread forms of retinal dystrophy such as retinitis pigmentosa. 18328765 2008
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 Biomarker disease BEFREE Peripherin-2 and Rom-1 have opposing effects on rod outer segment targeting of retinitis pigmentosa-linked peripherin-2 mutants. 28539581 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 Biomarker disease BEFREE The genes encoding two retinal specific proteins, rhodopsin and peripherin/RDS, have been implicated in causing adRP due to the observation of many different mutations in these genes in patients suffering from RP. 8364569 1993
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 GeneticVariation disease BEFREE Mutations in the peripherin/retinal degeneration slow (RDS) gene have been identified in patients with retinitis pigmentosa and pattern macular dystrophy. 7862413 1995