H00527 [KEGG MEDICUS

Kegg medicus disease en

H00527
H number	H00527
Name	Retinitis pigmentosa
Description	Retinitis pigmentosa (RP) is a group of inherited progressive retinal diseases characterized by progressive peripheral vision loss and night vision difficulties. RP can be divided into syndromic (40 %) and non-syndromic (60 %) forms. The most frequent forms of syndromic RP are Usher syndrome and Bardet-Biedl syndrome. Mutations in more than 50 genes are known to cause non-syndromic RP. Non-syndromic RP can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.
Category	Nervous system disease
Network	-
Gene	(RP1) RP1 [HSA:6101] [KO:K19538] (RP2) RP2 [HSA:6102] [KO:K18272] (RP3/RP15) RPGR [HSA:6103] [KO:K19607] (RP4) RHO [HSA:6010] [KO:K04250] (RP7) PRPH2 [HSA:5961] [KO:K17343] (RP7) ROM1 [HSA:6094] [KO:K17344] (RP9) RP9 [HSA:6100] [KO:K19604] (RP10) IMPDH1 [HSA:3614] [KO:K00088] (RP11) PRPF31 [HSA:26121] [KO:K12844] (RP12) CRB1 [HSA:23418] [KO:K16681] (RP13) PRPF8 [HSA:10594] [KO:K12856] (RP14) TULP1 [HSA:7287] [KO:K19600] (RP17) CA4 [HSA:762] [KO:K18246] (RP18) PRPF3 [HSA:9129] [KO:K12843] (RP19) ABCA4 [HSA:24] [KO:K05644] (RP20/87) RPE65 [HSA:6121] [KO:K11158] (RP23) OFD1 [HSA:8481] [KO:K16480] (RP25) EYS [HSA:346007] [KO:K19601] (RP26) CERKL [HSA:375298] [KO:K19602] (RP27) NRL [HSA:4901] [KO:K09038] (RP28) FAM161A [HSA:84140] [KO:K16772] (RP30) FSCN2 [HSA:25794] [KO:K17455] (RP31) TOPORS [HSA:10210] [KO:K10631] (RP32) CLCC1 [HSA:23155] [KO:K22188] (RP33) SNRNP200 [HSA:23020] [KO:K12854] (RP35) SEMA4A [HSA:64218] [KO:K06521] (RP36) PRCD [HSA:768206] [KO:K19637] (RP37) NR2E3 [HSA:10002] [KO:K08546] (RP38) MERTK [HSA:10461] [KO:K05117] (RP39) USH2A [HSA:7399] [KO:K19636] (RP40) PDE6B [HSA:5158] [KO:K13756] (RP41) PROM1 [HSA:8842] [KO:K06532] (RP42) KLHL7 [HSA:55975] [KO:K10445] (RP43) PDE6A [HSA:5145] [KO:K08718] (RP44) RGR [HSA:5995] [KO:K04254] (RP45) CNGB1 [HSA:1258] [KO:K04952] (RP46) IDH3B [HSA:3420] [KO:K00030] (RP47/RP96) SAG [HSA:6295] [KO:K19627] (RP48) GUCA1B [HSA:2979] [KO:K08328] (RP49) CNGA1 [HSA:1259] [KO:K04948] (RP50) BEST1 [HSA:7439] [KO:K13878] (RP54) PCARE [HSA:388939] [KO:K24165] (RP55) ARL6 [HSA:84100] [KO:K07951] (RP56) IMPG2 [HSA:50939] [KO:K19017] (RP57) PDE6G [HSA:5148] [KO:K13759] (RP58) ZNF513 [HSA:130557] [KO:K24373] (RP59) DHDDS [HSA:79947] [KO:K11778] (RP60) PRPF6 [HSA:24148] [KO:K12855] (RP61) CLRN1 [HSA:7401] [KO:K23841] (RP62) MAK [HSA:4117] [KO:K08829] (RP64) CFAP418 [HSA:157657] [KO:K25226] (RP66) RBP3 [HSA:5949] [KO:K23911] (RP67) NEK2 [HSA:4751] [KO:K20872] (RP68) SLC7A14 [HSA:57709] [KO:K13871] (RP69) KIZ [HSA:55857] [KO:K16539] (RP70) PRPF4 [HSA:9128] [KO:K12662] (RP71) IFT172 [HSA:26160] [KO:K19676] (RP72) ZNF408 [HSA:79797] [KO:K24372] (RP73) HGSNAT [HSA:138050] [KO:K10532] (RP74) BBS2 [HSA:583] [KO:K16747] (RP75) AGBL5 [HSA:60509] [KO:K23438] (RP76) POMGNT1 [HSA:55624] [KO:K09666] (RP77) REEP6 [HSA:92840] [KO:K17279] (RP78) ARHGEF18 [HSA:23370] [KO:K21066] (RP79) HK1 [HSA:3098] [KO:K00844] (RP80) IFT140 [HSA:9742] [KO:K19672] (RP81) IFT43 [HSA:112752] [KO:K19675] (RP82) ARL2BP [HSA:23568] [KO:K16742] (RP83) ARL3 [HSA:403] [KO:K07944] (RP84) DHX38 [HSA:9785] [KO:K12815] (RP85) AHR [HSA:196] [KO:K09093] (RP86) RP86 [HSA:57670] (RP88) RP1L1 [HSA:94137] [KO:K19538] (RP89) KIF3B [HSA:9371] [KO:K20196] (RP90) IDH3A [HSA:3419] [KO:K00030] (RP91) IMPG1 [HSA:3617] [KO:K19016] (RP92) HKDC1 [HSA:80201] [KO:K00844] (RP93) CC2D2A [HSA:57545] [KO:K19352] (RP94) SPATA7 [HSA:55812] [KO:K19655] (RP95) RAX2 [HSA:84839] [KO:K09333] (RP97) VWA8 [HSA:23078] [KO:K24512] (Bothnia retinal dystrophy) RLBP1 [HSA:6017] [KO:K19625]
Pathogen	-
Env factor	-
Carcinogen	-
Drug	Voretigene neparvovec [DR:D11008] (biallelic RPE65 mutated)
Comment	-
Other DBs	ICD-11: 9B70 ICD-10: H35.5 MeSH: D012174 OMIM: 268000 180100 312600 300029 300455 613731 608133 180104 180105 600138 600105 600059 600132 600852 601414 601718 613794 300424 602772 608380 613750 606068 607921 609923 609913 610359 610282 610599 611131 613862 613809 613801 612095 612943 613810 613769 613767 612572 613758 613827 613756 613194 613464 613428 613575 613581 613582 613617 613861 613983 614180 614181 614500 615565 615725 615780 615922 616394 616469 616544 616562 617023 617123 617304 617433 617460 617781 617871 615434 618173 618220 618345 618613 618697 618826 618955 619007 153870 619614 619845 604232 620102 620228 620422 607475
Reference	PMID:17296890 (RP1-30) AUTHORS Daiger SP, Bowne SJ, Sullivan LS TITLE Perspective on genes and mutations causing retinitis pigmentosa. JOURNAL Arch Ophthalmol 125:151-8 (2007) DOI:10.1001/archopht.125.2.151 PMID:15563868 (RP14-39) AUTHORS Wang DY, Chan WM, Tam PO, Baum L, Lam DS, Chong KK, Fan BJ, Pang CP TITLE Gene mutations in retinitis pigmentosa and their clinical implications. JOURNAL Clin Chim Acta 351:5-16 (2005) DOI:10.1016/j.cccn.2004.08.004 PMID:10889272 (RP39-49) AUTHORS Phelan JK, Bok D TITLE A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes. JOURNAL Mol Vis 6:116-24 (2000) PMID:21549338 (RP9_11_13_33_60) AUTHORS Tanackovic G, Ransijn A, Ayuso C, Harper S, Berson EL, Rivolta C TITLE A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. JOURNAL Am J Hum Genet 88:643-9 (2011) DOI:10.1016/j.ajhg.2011.04.008 PMID:19956407 (RP12_55) AUTHORS Aldahmesh MA, Safieh LA, Alkuraya H, Al-Rajhi A, Shamseldin H, Hashem M, Alzahrani F, Khan AO, Alqahtani F, Rahbeeni Z, Alowain M, Khalak H, Al-Hazzaa S, Meyer BF, Alkuraya FS TITLE Molecular characterization of retinitis pigmentosa in Saudi Arabia. JOURNAL Mol Vis 15:2464-9 (2009) PMID:19853238 (RP50) AUTHORS Davidson AE, Millar ID, Urquhart JE, Burgess-Mullan R, Shweikh Y, Parry N, O'Sullivan J, Maher GJ, McKibbin M, Downes SM, Lotery AJ, Jacobson SG, Brown PD, Black GC, Manson FD TITLE Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. JOURNAL Am J Hum Genet 85:581-92 (2009) DOI:10.1016/j.ajhg.2009.09.015 PMID:20398884 (RP54) AUTHORS Collin RW, Safieh C, Littink KW, Shalev SA, Garzozi HJ, Rizel L, Abbasi AH, Cremers FP, den Hollander AI, Klevering BJ, Ben-Yosef T TITLE Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa. JOURNAL Am J Hum Genet 86:783-8 (2010) DOI:10.1016/j.ajhg.2010.03.016 PMID:21295282 (RP59) AUTHORS Zelinger L, Banin E, Obolensky A, Mizrahi-Meissonnier L, Beryozkin A, Bandah-Rozenfeld D, Frenkel S, Ben-Yosef T, Merin S, Schwartz SB, Cideciyan AV, Jacobson SG, Sharon D TITLE A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews. JOURNAL Am J Hum Genet 88:207-15 (2011) DOI:10.1016/j.ajhg.2011.01.002 PMID:21835304 (RP62) AUTHORS Ozgul RK, Siemiatkowska AM, Yucel D, Myers CA, Collin RW, Zonneveld MN, Beryozkin A, Banin E, Hoyng CB, van den Born LI, Bose R, Shen W, Sharon D, Cremers FP, Klevering BJ, den Hollander AI, Corbo JC TITLE Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. JOURNAL Am J Hum Genet 89:253-64 (2011) DOI:10.1016/j.ajhg.2011.07.005 PMID:25802487 (RP64) AUTHORS Ravesh Z, El Asrag ME, Weisschuh N, McKibbin M, Reuter P, Watson CM, Baumann B, Poulter JA, Sajid S, Panagiotou ES, O'Sullivan J, Abdelhamed Z, Bonin M, Soltanifar M, Black GC, Amin-ud Din M, Toomes C, Ansar M, Inglehearn CF, Wissinger B, Ali M TITLE Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin. JOURNAL Mol Vis 21:236-43 (2015) PMID:24670872 (RP68) AUTHORS Jin ZB, Huang XF, Lv JN, Xiang L, Li DQ, Chen J, Huang C, Wu J, Lu F, Qu J TITLE SLC7A14 linked to autosomal recessive retinitis pigmentosa. JOURNAL Nat Commun 5:3517 (2014) DOI:10.1038/ncomms4517 PMID:25168386 (RP69_71) AUTHORS Bujakowska KM, Zhang Q, Siemiatkowska AM, Liu Q, Place E, Falk MJ, Consugar M, Lancelot ME, Antonio A, Lonjou C, Carpentier W, Mohand-Said S, den Hollander AI, Cremers FP, Leroy BP, Gai X, Sahel JA, van den Born LI, Collin RW, Zeitz C, Audo I, Pierce EA TITLE Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. JOURNAL Hum Mol Genet 24:230-42 (2015) DOI:10.1093/hmg/ddu441 PMID:27889058 (RP77) AUTHORS Arno G, Agrawal SA, Eblimit A, Bellingham J, Xu M, Wang F, Chakarova C, Parfitt DA, Lane A, Burgoyne T, Hull S, Carss KJ, Fiorentino A, Hayes MJ, Munro PM, Nicols R, Pontikos N, Holder GE, Asomugha C, Raymond FL, Moore AT, Plagnol V, Michaelides M, Hardcastle AJ, Li Y, Cukras C, Webster AR, Cheetham ME, Chen R TITLE Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. JOURNAL Am J Hum Genet 99:1305-1315 (2016) DOI:10.1016/j.ajhg.2016.10.008 PMID:25541840 (RP74) AUTHORS Shevach E, Ali M, Mizrahi-Meissonnier L, McKibbin M, El-Asrag M, Watson CM, Inglehearn CF, Ben-Yosef T, Blumenfeld A, Jalas C, Banin E, Sharon D TITLE Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. JOURNAL JAMA Ophthalmol 133:312-8 (2015) DOI:10.1001/jamaophthalmol.2014.5251 PMID:28132693 (RP78) AUTHORS Arno G, Carss KJ, Hull S, Zihni C, Robson AG, Fiorentino A, Hardcastle AJ, Holder GE, Cheetham ME, Plagnol V, Moore AT, Raymond FL, Matter K, Balda MS, Webster AR TITLE Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. JOURNAL Am J Hum Genet 100:334-342 (2017) DOI:10.1016/j.ajhg.2016.12.014 PMID:25190649 (RP79) AUTHORS Sullivan LS, Koboldt DC, Bowne SJ, Lang S, Blanton SH, Cadena E, Avery CE, Lewis RA, Webb-Jones K, Wheaton DH, Birch DG, Coussa R, Ren H, Lopez I, Chakarova C, Koenekoop RK, Garcia CA, Fulton RS, Wilson RK, Weinstock GM, Daiger SP TITLE A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa. JOURNAL Invest Ophthalmol Vis Sci 55:7147-58 (2014) DOI:10.1167/iovs.14-15419 PMID:26968735 (RP80) AUTHORS Hull S, Owen N, Islam F, Tracey-White D, Plagnol V, Holder GE, Michaelides M, Carss K, Raymond FL, Rozet JM, Ramsden SC, Black GC, Perrault I, Sarkar A, Moosajee M, Webster AR, Arno G, Moore AT TITLE Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. JOURNAL Invest Ophthalmol Vis Sci 57:1053-62 (2016) DOI:10.1167/iovs.15-17976 PMID:30208423 (RP84) AUTHORS Latif Z, Chakchouk I, Schrauwen I, Lee K, Santos-Cortez RLP, Abbe I, Acharya A, Jarral A, Ali I, Ullah E, Khan MN, Ali G, Tahir TH, Bamshad MJ, Nickerson DA, Ahmad W, Ansar M, Leal SM TITLE Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa. JOURNAL Invest Ophthalmol Vis Sci 59:4552-4557 (2018) DOI:10.1167/iovs.18-23849 PMID:30025130 (RP88) AUTHORS Zobor D, Zobor G, Hipp S, Baumann B, Weisschuh N, Biskup S, Sliesoraityte I, Zrenner E, Kohl S TITLE Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort. JOURNAL Invest Ophthalmol Vis Sci 59:3041-3052 (2018) DOI:10.1167/iovs.18-24033 PMID:28412069 (RP90) AUTHORS Pierrache LHM, Kimchi A, Ratnapriya R, Roberts L, Astuti GDN, Obolensky A, Beryozkin A, Tjon-Fo-Sang MJH, Schuil J, Klaver CCW, Bongers EMHF, Haer-Wigman L, Schalij N, Breuning MH, Fischer GM, Banin E, Ramesar RS, Swaroop A, van den Born LI, Sharon D, Cremers FPM TITLE Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma. JOURNAL Ophthalmology 124:992-1003 (2017) DOI:10.1016/j.ophtha.2017.03.010 PMID:14691150 (RP91) AUTHORS van Lith-Verhoeven JJ, Hoyng CB, van den Helm B, Deutman AF, Brink HM, Kemperman MH, de Jong WH, Kremer H, Cremers FP TITLE The benign concentric annular macular dystrophy locus maps to 6p12.3-q16. JOURNAL Invest Ophthalmol Vis Sci 45:30-5 (2004) DOI:10.1167/iovs.03-0392 PMID:30085091 (RP92) AUTHORS Zhang L, Sun Z, Zhao P, Huang L, Xu M, Yang Y, Chen X, Lu F, Zhang X, Wang H, Zhang S, Liu W, Jiang Z, Ma S, Chen R, Zhao C, Yang Z, Sui R, Zhu X TITLE Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa. JOURNAL Hum Mol Genet 27:4157-4168 (2018) DOI:10.1093/hmg/ddy281 PMID:30267408 (RP93) AUTHORS Mejecase C, Hummel A, Mohand-Said S, Andrieu C, El Shamieh S, Antonio A, Condroyer C, Boyard F, Foussard M, Blanchard S, Letexier M, Saraiva JP, Sahel JA, Zeitz C, Audo I TITLE Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy. JOURNAL Clin Genet 95:329-333 (2019) DOI:10.1111/cge.13453 PMID:19268277 (RP94) AUTHORS Wang H, den Hollander AI, Moayedi Y, Abulimiti A, Li Y, Collin RW, Hoyng CB, Lopez I, Abboud EB, Al-Rajhi AA, Bray M, Lewis RA, Lupski JR, Mardon G, Koenekoop RK, Chen R TITLE Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. JOURNAL Am J Hum Genet 84:380-7 (2009) DOI:10.1016/j.ajhg.2009.02.005 PMID:30377383 (RP95) AUTHORS Van de Sompele S, Smith C, Karali M, Corton M, Van Schil K, Peelman F, Cherry T, Rosseel T, Verdin H, Derolez J, Van Laethem T, Khan KN, McKibbin M, Toomes C, Ali M, Torella A, Testa F, Jimenez B, Simonelli F, De Zaeytijd J, Van den Ende J, Leroy BP, Coppieters F, Ayuso C, Inglehearn CF, Banfi S, De Baere E TITLE Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease. JOURNAL Genet Med 21:1319-1329 (2019) DOI:10.1038/s41436-018-0345-5 PMID:28549094 (RP96) AUTHORS Sullivan LS, Bowne SJ, Koboldt DC, Cadena EL, Heckenlively JR, Branham KE, Wheaton DH, Jones KD, Ruiz RS, Pennesi ME, Yang P, Davis-Boozer D, Northrup H, Gurevich VV, Chen R, Xu M, Li Y, Birch DG, Daiger SP TITLE A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States. JOURNAL Invest Ophthalmol Vis Sci 58:2774-2784 (2017) DOI:10.1167/iovs.16-21341 PMID:37012052 (RP97) AUTHORS Kong L, Chu G, Ma W, Liang J, Liu D, Liu Q, Wei X, Jia S, Gu H, He Y, Luo W, Cao S, Zhou X, He R, Yuan Z TITLE Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation. JOURNAL J Med Genet jmg-2022-108888 (2023) DOI:10.1136/jmg-2022-108888 PMID:11176989 (Bothnia retinal dystrophy) AUTHORS Burstedt MS, Forsman-Semb K, Golovleva I, Janunger T, Wachtmeister L, Sandgren O TITLE Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene. JOURNAL Arch Ophthalmol 119:260-7 (2001)

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