H00527 [KEGG MEDICUS

Kegg medicus disease

H00527
H番号	H00527
名称	網膜色素変性
概要	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.
カテゴリ	神経系疾患
ネットワーク	-
病因遺伝子	(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]
病原体	-
環境要因	-
発癌物質	-
治療薬	ヘレニエン [DR:D01031]
コメント	-
リンク	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
文献	PMID:17296890 (RP1-30) 著者 Daiger SP, Bowne SJ, Sullivan LS タイトル Perspective on genes and mutations causing retinitis pigmentosa. 雑誌 Arch Ophthalmol 125:151-8 (2007) DOI:10.1001/archopht.125.2.151 PMID:15563868 (RP14-39) 著者 Wang DY, Chan WM, Tam PO, Baum L, Lam DS, Chong KK, Fan BJ, Pang CP タイトル Gene mutations in retinitis pigmentosa and their clinical implications. 雑誌 Clin Chim Acta 351:5-16 (2005) DOI:10.1016/j.cccn.2004.08.004 PMID:10889272 (RP39-49) 著者 Phelan JK, Bok D タイトル A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes. 雑誌 Mol Vis 6:116-24 (2000) PMID:21549338 (RP9_11_13_33_60) 著者 Tanackovic G, Ransijn A, Ayuso C, Harper S, Berson EL, Rivolta C タイトル A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. 雑誌 Am J Hum Genet 88:643-9 (2011) DOI:10.1016/j.ajhg.2011.04.008 PMID:19956407 (RP12_55) 著者 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 タイトル Molecular characterization of retinitis pigmentosa in Saudi Arabia. 雑誌 Mol Vis 15:2464-9 (2009) PMID:19853238 (RP50) 著者 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 タイトル Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. 雑誌 Am J Hum Genet 85:581-92 (2009) DOI:10.1016/j.ajhg.2009.09.015 PMID:20398884 (RP54) 著者 Collin RW, Safieh C, Littink KW, Shalev SA, Garzozi HJ, Rizel L, Abbasi AH, Cremers FP, den Hollander AI, Klevering BJ, Ben-Yosef T タイトル Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa. 雑誌 Am J Hum Genet 86:783-8 (2010) DOI:10.1016/j.ajhg.2010.03.016 PMID:21295282 (RP59) 著者 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 タイトル A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews. 雑誌 Am J Hum Genet 88:207-15 (2011) DOI:10.1016/j.ajhg.2011.01.002 PMID:21835304 (RP62) 著者 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 タイトル Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. 雑誌 Am J Hum Genet 89:253-64 (2011) DOI:10.1016/j.ajhg.2011.07.005 PMID:25802487 (RP64) 著者 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 タイトル Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin. 雑誌 Mol Vis 21:236-43 (2015) PMID:24670872 (RP68) 著者 Jin ZB, Huang XF, Lv JN, Xiang L, Li DQ, Chen J, Huang C, Wu J, Lu F, Qu J タイトル SLC7A14 linked to autosomal recessive retinitis pigmentosa. 雑誌 Nat Commun 5:3517 (2014) DOI:10.1038/ncomms4517 PMID:25168386 (RP69_71) 著者 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 タイトル Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. 雑誌 Hum Mol Genet 24:230-42 (2015) DOI:10.1093/hmg/ddu441 PMID:27889058 (RP77) 著者 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 タイトル Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. 雑誌 Am J Hum Genet 99:1305-1315 (2016) DOI:10.1016/j.ajhg.2016.10.008 PMID:25541840 (RP74) 著者 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 タイトル Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. 雑誌 JAMA Ophthalmol 133:312-8 (2015) DOI:10.1001/jamaophthalmol.2014.5251 PMID:28132693 (RP78) 著者 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 タイトル Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. 雑誌 Am J Hum Genet 100:334-342 (2017) DOI:10.1016/j.ajhg.2016.12.014 PMID:25190649 (RP79) 著者 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 タイトル A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa. 雑誌 Invest Ophthalmol Vis Sci 55:7147-58 (2014) DOI:10.1167/iovs.14-15419 PMID:26968735 (RP80) 著者 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 タイトル Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. 雑誌 Invest Ophthalmol Vis Sci 57:1053-62 (2016) DOI:10.1167/iovs.15-17976 PMID:30208423 (RP84) 著者 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 タイトル Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa. 雑誌 Invest Ophthalmol Vis Sci 59:4552-4557 (2018) DOI:10.1167/iovs.18-23849 PMID:30025130 (RP88) 著者 Zobor D, Zobor G, Hipp S, Baumann B, Weisschuh N, Biskup S, Sliesoraityte I, Zrenner E, Kohl S タイトル Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort. 雑誌 Invest Ophthalmol Vis Sci 59:3041-3052 (2018) DOI:10.1167/iovs.18-24033 PMID:28412069 (RP90) 著者 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 タイトル Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma. 雑誌 Ophthalmology 124:992-1003 (2017) DOI:10.1016/j.ophtha.2017.03.010 PMID:14691150 (RP91) 著者 van Lith-Verhoeven JJ, Hoyng CB, van den Helm B, Deutman AF, Brink HM, Kemperman MH, de Jong WH, Kremer H, Cremers FP タイトル The benign concentric annular macular dystrophy locus maps to 6p12.3-q16. 雑誌 Invest Ophthalmol Vis Sci 45:30-5 (2004) DOI:10.1167/iovs.03-0392 PMID:30085091 (RP92) 著者 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 タイトル Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa. 雑誌 Hum Mol Genet 27:4157-4168 (2018) DOI:10.1093/hmg/ddy281 PMID:30267408 (RP93) 著者 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 タイトル Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy. 雑誌 Clin Genet 95:329-333 (2019) DOI:10.1111/cge.13453 PMID:19268277 (RP94) 著者 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 タイトル Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. 雑誌 Am J Hum Genet 84:380-7 (2009) DOI:10.1016/j.ajhg.2009.02.005 PMID:30377383 (RP95) 著者 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 タイトル Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease. 雑誌 Genet Med 21:1319-1329 (2019) DOI:10.1038/s41436-018-0345-5 PMID:28549094 (RP96) 著者 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 タイトル 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. 雑誌 Invest Ophthalmol Vis Sci 58:2774-2784 (2017) DOI:10.1167/iovs.16-21341 PMID:37012052 (RP97) 著者 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 タイトル Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation. 雑誌 J Med Genet jmg-2022-108888 (2023) DOI:10.1136/jmg-2022-108888 PMID:11176989 (Bothnia retinal dystrophy) 著者 Burstedt MS, Forsman-Semb K, Golovleva I, Janunger T, Wachtmeister L, Sandgren O タイトル Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene. 雑誌 Arch Ophthalmol 119:260-7 (2001)

KEGG MEDICUS - Disease