KEGG   DISEASE: CD36 欠損症
エントリ  
H01108                                                             
名称    
CD36 欠損症;
血小板膜糖タンパク (GPIV) 欠損症;
血小板型出血性疾患 10 (BDPLT10)
  上位グループ
血小板型出血性疾患 [DS:H01235]
概要    
Human genetic platelet glycoprotein IV (CD36) deficiency may be related to the phenotypic expression of the metabolic syndrome and is frequently associated with atherosclerotic cardiovascular diseases. CD36 deficiency is relatively frequent in Asian and African populations. It also has been reported that CD36 deficiency might be linked with cardiomyopathy. This deficiency can be classified in two subgroups: the type I phenotype is characterized by platelets and monocytes/macrophages that exhibit CD36 deficiency; whereas in the type II phenotype, the surface expression of CD36 is lacking only in platelets, but expression is near normal in monocytes/macrophages.
カテゴリ  
先天性代謝異常症
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  代謝疾患
   リポタンパク質代謝疾患または脂質血症
    5C80  高リポタンパク血症
     H01108  CD36 欠損症
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06535  エフェロサイトーシス
   H01108  CD36 欠損症
パスウェイ 
hsa04148  Efferocytosis
hsa04920  Adipocytokine signaling pathway
hsa04975  Fat digestion and absorption
hsa04979  Cholesterol metabolism
hsa04931  Insulin resistance
ネットワーク
nt06535 Efferocytosis
病因遺伝子 
CD36 [HSA:948] [KO:K06259]
リンク   
ICD-11: 5C80.Y
MeSH: C564245
OMIM: 608404
文献    
  著者
Hirano K, Kuwasako T, Nakagawa-Toyama Y, Janabi M, Yamashita S, Matsuzawa Y
  タイトル
Pathophysiology of human genetic CD36 deficiency.
  雑誌
Trends Cardiovasc Med 13:136-41 (2003)
DOI:10.1016/S1050-1738(03)00026-4
文献    
  著者
Podrez EA, Byzova TV, Febbraio M, Salomon RG, Ma Y, Valiyaveettil M, Poliakov E, Sun M, Finton PJ, Curtis BR, Chen J, Zhang R, Silverstein RL, Hazen SL
  タイトル
Platelet CD36 links hyperlipidemia, oxidant stress and a prothrombotic phenotype.
  雑誌
Nat Med 13:1086-95 (2007)
DOI:10.1038/nm1626
LinkDB    

» English version

DBGET integrated database retrieval system