KEGG   DISEASE: 血小板機能障害を伴う反復性消化性潰瘍
エントリ  
H02504                                                             
名称    
血小板機能障害を伴う反復性消化性潰瘍
概要    
Gastrointestinal ulceration, recurrent, with dysfunctional platelets (GURDP) is an inherited cytosolic phospholipase A2 (cPLA2) deficiency due to mutations in PLA2G4A. Patients have severe peptic ulcers and bleeding beginning at an early age. cPLA2 catalyzes the hydrolysis of phospholipids to arachidonic acid and lysophospholipids that are precursors of numerous bioactive lipids.
カテゴリ  
消化器系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 13 消化器系の疾患
  胃または十二指腸の疾患
   胃または十二指腸の潰瘍
    DA60  胃潰瘍
     H02504  血小板機能障害を伴う反復性消化性潰瘍
パスウェイ 
hsa04611  Platelet activation
hsa04750  Inflammatory mediator regulation of TRP channels
hsa00590  Arachidonic acid metabolism
病因遺伝子 
PLA2G4A [HSA:5321] [KO:K16342]
リンク   
ICD-11: DA60.Y
MeSH: D010438
OMIM: 618372
文献    
  著者
Adler DH, Cogan JD, Phillips JA 3rd, Schnetz-Boutaud N, Milne GL, Iverson T, Stein JA, Brenner DA, Morrow JD, Boutaud O, Oates JA
  タイトル
Inherited human cPLA(2alpha) deficiency is associated with impaired eicosanoid biosynthesis, small intestinal ulceration, and platelet dysfunction.
  雑誌
J Clin Invest 118:2121-31 (2008)
DOI:10.1172/JCI30473
文献    
  著者
Leslie CC
  タイトル
Cytosolic phospholipase A(2): physiological function and role in disease.
  雑誌
J Lipid Res 56:1386-402 (2015)
DOI:10.1194/jlr.R057588
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