| H00837 | |
| H number | H00837 |
| Name | Leber congenital amaurosis |
| Description | 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. |
| Category | Nervous system disease |
| Network | nt06515(H00837) Regulation of kinetochore-microtubule interactions |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Voretigene neparvovec [DR:D11008] (biallelic RPE65 mutated) |
| Comment | - |
| Other DBs | 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 |
| Reference | PMID:21705775 AUTHORS Liu MM, Tuo J, Chan CC TITLE Republished review: Gene therapy for ocular diseases. JOURNAL Postgrad Med J 87:487-95 (2011) DOI:10.1136/pgmj.2009.174912rep PMID:20301475 (LCA1-13) AUTHORS Weleber RG, Francis PJ, Trzupek KM TITLE Leber Congenital Amaurosis JOURNAL GeneReviews (1993) PMID:20399883 (LCA2) AUTHORS Cideciyan AV TITLE Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy. JOURNAL Prog Retin Eye Res 29:398-427 (2010) DOI:10.1016/j.preteyeres.2010.04.002 PMID:22842230 (LCA9) AUTHORS 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 TITLE Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. JOURNAL Nat Genet 44:1035-9 (2012) DOI:10.1038/ng.2356 PMID:22570351 (LCA14) AUTHORS 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 TITLE Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study. JOURNAL Invest Ophthalmol Vis Sci 53:3927-38 (2012) DOI:10.1167/iovs.12-9548 PMID:17962469 (LCA15) AUTHORS Mataftsi A, Schorderet DF, Chachoua L, Boussalah M, Nouri MT, Barthelmes D, Borruat FX, Munier FL TITLE Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration. JOURNAL Invest Ophthalmol Vis Sci 48:5160-7 (2007) DOI:10.1167/iovs.06-1013 PMID:21763485 (LCA16) AUTHORS Sergouniotis PI, Davidson AE, Mackay DS, Li Z, Yang X, Plagnol V, Moore AT, Webster AR TITLE Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis. JOURNAL Am J Hum Genet 89:183-90 (2011) DOI:10.1016/j.ajhg.2011.06.002 PMID:30573563 (LCA19) AUTHORS Yi Z, Ouyang J, Sun W, Xiao X, Li S, Jia X, Wang P, Zhang Q TITLE Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis. JOURNAL J Med Genet 56:325-331 (2019) DOI:10.1136/jmedgenet-2018-105709 PMID:29198720 (LCAEOD) AUTHORS 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 TITLE Mutations in TUBB4B Cause a Distinctive Sensorineural Disease. JOURNAL Am J Hum Genet 101:1006-1012 (2017) DOI:10.1016/j.ajhg.2017.10.010 PMID:23307924 (LCA17) AUTHORS 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 TITLE Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. JOURNAL Hum Mol Genet 22:1432-42 (2013) DOI:10.1093/hmg/dds560 PMID:23847139 (LCA18) AUTHORS 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 TITLE Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. JOURNAL J Med Genet 50:674-88 (2013) DOI:10.1136/jmedgenet-2013-101558 |