| H00837 | |
| H番号 | H00837 |
| 名称 | レーバー先天性黒内障 |
| 概要 | Leber congenital amaurosis (LCA) is a heterogeneous group of severe retinal degenerations, which typically becomes evident in the first year of life. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA is generally inherited in an autosomal recessive manner, and caused by mutations in more than a dozen genes. Several have been demonstrated as potentially efficacious gene therapy targets. |
| カテゴリ | 神経系疾患 |
| ネットワーク | nt06515(H00837) Regulation of kinetochore-microtubule interactions |
| 病因遺伝子 | (LCA1) GUCY2D [HSA:3000] [KO:K12321] (LCA2) RPE65 [HSA:6121] [KO:K11158] (LCA3) SPATA7 [HSA:55812] [KO:K19655] (LCA4) AIPL1 [HSA:23746] [KO:K17767] (LCA5) LCA5 [HSA:167691] [KO:K24828] (LCA6) RPGRIP1 [HSA:57096] [KO:K16512] (LCA7) CRX [HSA:1406] [KO:K09337] (LCA8) CRB1 [HSA:23418] [KO:K16681] (LCA9) NMNAT1 [HSA:64802] [KO:K06210] (LCA10) CEP290 [HSA:80184] [KO:K16533] (LCA11) IMPDH1 [HSA:3614] [KO:K00088] (LCA12) RD3 [HSA:343035] [KO:K25404] (LCA13) RDH12 [HSA:145226] [KO:K11153] (LCA14) LRAT [HSA:9227] [KO:K00678] (LCA15) TULP1 [HSA:7287] [KO:K19600] (LCA16) KCNJ13 [HSA:3769] [KO:K05006] (LCA17) GDF6 [HSA:392255] [KO:K20012] (LCA18) PRPH2 [HSA:5961] [KO:K17343] (LCA19) USP45 [HSA:85015] [KO:K11844] (LCAEOD) TUBB4B [HSA:10383] [KO:K07375] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 9B70 ICD-10: H35.5 MeSH: D057130 OMIM: 204000 204100 604232 604393 604537 613826 613829 613835 608553 611755 613837 610612 612712 613341 613843 614186 615360 608133 618513 617879 |
| 文献 | PMID:21705775 著者 Liu MM, Tuo J, Chan CC タイトル Republished review: Gene therapy for ocular diseases. 雑誌 Postgrad Med J 87:487-95 (2011) DOI:10.1136/pgmj.2009.174912rep PMID:20301475 (LCA1-13) 著者 Weleber RG, Francis PJ, Trzupek KM タイトル Leber Congenital Amaurosis 雑誌 GeneReviews (1993) PMID:20399883 (LCA2) 著者 Cideciyan AV タイトル Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy. 雑誌 Prog Retin Eye Res 29:398-427 (2010) DOI:10.1016/j.preteyeres.2010.04.002 PMID:22842230 (LCA9) 著者 Koenekoop RK, Wang H, Majewski J, Wang X, Lopez I, Ren H, Chen Y, Li Y, Fishman GA, Genead M, Schwartzentruber J, Solanki N, Traboulsi EI, Cheng J, Logan CV, McKibbin M, Hayward BE, Parry DA, Johnson CA, Nageeb M, Poulter JA, Mohamed MD, Jafri H, Rashid Y, Taylor GR, Keser V, Mardon G, Xu H, Inglehearn CF, Fu Q, Toomes C, Chen R タイトル Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. 雑誌 Nat Genet 44:1035-9 (2012) DOI:10.1038/ng.2356 PMID:22570351 (LCA14) 著者 Dev Borman A, Ocaka LA, Mackay DS, Ripamonti C, Henderson RH, Moradi P, Hall G, Black GC, Robson AG, Holder GE, Webster AR, Fitzke F, Stockman A, Moore AT タイトル Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study. 雑誌 Invest Ophthalmol Vis Sci 53:3927-38 (2012) DOI:10.1167/iovs.12-9548 PMID:17962469 (LCA15) 著者 Mataftsi A, Schorderet DF, Chachoua L, Boussalah M, Nouri MT, Barthelmes D, Borruat FX, Munier FL タイトル Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration. 雑誌 Invest Ophthalmol Vis Sci 48:5160-7 (2007) DOI:10.1167/iovs.06-1013 PMID:21763485 (LCA16) 著者 Sergouniotis PI, Davidson AE, Mackay DS, Li Z, Yang X, Plagnol V, Moore AT, Webster AR タイトル Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis. 雑誌 Am J Hum Genet 89:183-90 (2011) DOI:10.1016/j.ajhg.2011.06.002 PMID:30573563 (LCA19) 著者 Yi Z, Ouyang J, Sun W, Xiao X, Li S, Jia X, Wang P, Zhang Q タイトル Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis. 雑誌 J Med Genet 56:325-331 (2019) DOI:10.1136/jmedgenet-2018-105709 PMID:29198720 (LCAEOD) 著者 Luscan R, Mechaussier S, Paul A, Tian G, Gerard X, Defoort-Dellhemmes S, Loundon N, Audo I, Bonnin S, LeGargasson JF, Dumont J, Goudin N, Garfa-Traore M, Bras M, Pouliet A, Bessieres B, Boddaert N, Sahel JA, Lyonnet S, Kaplan J, Cowan NJ, Rozet JM, Marlin S, Perrault I タイトル Mutations in TUBB4B Cause a Distinctive Sensorineural Disease. 雑誌 Am J Hum Genet 101:1006-1012 (2017) DOI:10.1016/j.ajhg.2017.10.010 PMID:23307924 (LCA17) 著者 Asai-Coakwell M, March L, Dai XH, Duval M, Lopez I, French CR, Famulski J, De Baere E, Francis PJ, Sundaresan P, Sauve Y, Koenekoop RK, Berry FB, Allison WT, Waskiewicz AJ, Lehmann OJ タイトル Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. 雑誌 Hum Mol Genet 22:1432-42 (2013) DOI:10.1093/hmg/dds560 PMID:23847139 (LCA18) 著者 Wang X, Wang H, Sun V, Tuan HF, Keser V, Wang K, Ren H, Lopez I, Zaneveld JE, Siddiqui S, Bowles S, Khan A, Salvo J, Jacobson SG, Iannaccone A, Wang F, Birch D, Heckenlively JR, Fishman GA, Traboulsi EI, Li Y, Wheaton D, Koenekoop RK, Chen R タイトル Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 雑誌 J Med Genet 50:674-88 (2013) DOI:10.1136/jmedgenet-2013-101558 |