KEGG   DISEASE: Wagner 症候群
エントリ  
H02073                                                             
名称    
Wagner 症候群
  上位グループ
硝子体網膜変性 [DS:H00805]
概要    
Wagner syndrome is a rare dominantly inherited vitreoretinopathy, characterized by an optically empty vitreous with avascular vitreous strands and veils. Wagner syndrome is caused by mutations in VCAN, encoding a chondroitin sulfate proteoglycan termed versican.
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
   硝子体の疾患
    9B80  遺伝性網膜硝子体疾患
     H02073  Wagner 症候群
パスウェイ 
hsa04514  Cell adhesion molecules
病因遺伝子 
VCAN [HSA:1462] [KO:K06793]
リンク   
ICD-11: 9B80
MeSH: C536075
OMIM: 143200
文献    
PMID:21738396
  著者
Brezin AP, Nedelec B, Barjol A, Rothschild PR, Delpech M, Valleix S
  タイトル
A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.
  雑誌
Mol Vis 17:1669-78 (2011)
文献    
PMID:16043844
  著者
Miyamoto T, Inoue H, Sakamoto Y, Kudo E, Naito T, Mikawa T, Mikawa Y, Isashiki Y, Osabe D, Shinohara S, Shiota H, Itakura M
  タイトル
Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.
  雑誌
Invest Ophthalmol Vis Sci 46:2726-35 (2005)
DOI:10.1167/iovs.05-0057
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