KEGG   DISEASE: Reynolds 症候群
エントリ  
H01133                                                             
名称    
Reynolds 症候群
概要    
Reynolds syndrome is a rare disease associating primary biliary cirrhosis (PBC) and systemic scleroderma (SSc). It is typically classified as an autoimmune disorder since there are specific autoantibodies associated with both facets of the disease (antimitochondrial antibodies for PBC and anticentromere/antitopoisomerase for SSc), and suggestive microscopical abnormalities in the skin and liver. A mutation in the Lamin B receptor gene has been discovered in the white blood cells, suggesting that nuclear signalling defects could be a cause in Reynolds syndrome.
カテゴリ  
免疫系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 04 免疫系の疾患
  非器官特異的全身性自己免疫疾患
   4A43  重複または未分化の非器官特異的全身性自己免疫疾患
    H01133  Reynolds 症候群
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06539  筋細胞の細胞骨格
   H01133  Reynolds 症候群
パスウェイ 
hsa04820  Cytoskeleton in muscle cells
hsa00100  Steroid biosynthesis
ネットワーク
nt06539 Cytoskeleton in muscle cells
病因遺伝子 
LBR [HSA:3930] [KO:K19532]
リンク   
ICD-11: 4A43.Y
OMIM: 613471
文献    
  著者
Cabane J
  タイトル
Is Reynolds syndrome a genetic laminopathy?
  雑誌
Gastroenterol Clin Biol 34:509-10 (2010)
DOI:10.1016/j.gcb.2010.07.008
文献    
  著者
Gaudy-Marqueste C, Roll P, Esteves-Vieira V, Weiller PJ, Grob JJ, Cau P, Levy N, De Sandre-Giovannoli A
  タイトル
LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome.
  雑誌
J Med Genet 47:361-70 (2010)
DOI:10.1136/jmg.2009.071696
LinkDB    

» English version

DBGET integrated database retrieval system