KEGG   DISEASE: レーバー先天性黒内障
エントリ  
H00837                                                             
名称    
レーバー先天性黒内障
  下位グループ
早期発症の難聴を伴うレーバー先天性黒内障 (LCAEOD)
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
階層分類  
ヒト疾患 [BR:jp08402]
 神経系疾患
  眼疾患
   H00837  レーバー先天性黒内障
ICD-11 による疾患分類 [BR:jp08403]
 09 視覚系の疾患
  眼球後極部の疾患
   網膜の疾患
    9B70  遺伝性網膜ジストロフィ
     H00837  レーバー先天性黒内障
関連パスウェイ
hsa00830  Retinol metabolism
hsa00230  Purine metabolism
hsa04390  Hippo signaling pathway
hsa04744  Phototransduction
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]
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    
  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
文献    
PMID:20301475 (LCA1-13)
  著者
Weleber RG, Francis PJ, Trzupek KM
  タイトル
Leber Congenital Amaurosis
  雑誌
GeneReviews (1993)
文献    
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
文献    
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
文献    
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
文献    
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
文献    
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
文献    
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
文献    
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
文献    
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
文献    
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
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