KEGG   DISEASE: 遅発性網膜変性
エントリ  
H01130                                                             
名称    
遅発性網膜変性
概要    
Late-onset retinal degeneration (LORD) is a rare autosomal dominant ocular disease characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits between the retinal pigment epithelium (RPE) and Bruch's membrane, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy. LORD is caused by a mutation in the CTRP5 (C1QTNF5) gene, which encodes a short-chain collagen, changing a highly conserved serine to arginine (Ser163Arg). The mutation results in abnormal high molecular weight aggregate formation which may alter its higher-order structure and interactions.
カテゴリ  
神経系疾患
階層分類  
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
     H01130  遅発性網膜変性
病因遺伝子 
C1QTNF5 [HSA:114902] [KO:K24212]
リンク   
ICD-11: 9B70
MeSH: C565309
OMIM: 605670
文献    
  著者
Vincent A, Munier FL, Vandenhoven CC, Wright T, Westall CA, Heon E
  タイトル
The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration.
  雑誌
Retina 32:1643-51 (2012)
DOI:10.1097/IAE.0b013e318240a574
文献    
  著者
Hayward C, Shu X, Cideciyan AV, Lennon A, Barran P, Zareparsi S, Sawyer L, Hendry G, Dhillon B, Milam AH, Luthert PJ, Swaroop A, Hastie ND, Jacobson SG, Wright AF
  タイトル
Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration.
  雑誌
Hum Mol Genet 12:2657-67 (2003)
DOI:10.1093/hmg/ddg289
文献    
  著者
Milam AH, Curcio CA, Cideciyan AV, Saxena S, John SK, Kruth HS, Malek G, Heckenlively JR, Weleber RG, Jacobson SG
  タイトル
Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration.
  雑誌
Ophthalmology 107:2256-66 (2000)
DOI:10.1016/S0161-6420(00)00419-X
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