KEGG   DISEASE: Poor metabolism of thiopurines
エントリ  
H00964                                                             
名称    
Poor metabolism of thiopurines
  下位グループ
チオプリンS-メチルトランスフェラーゼ欠損
概要    
Poor metabolism of thiopurines (THPM) is inherited severe intolerance to thiopurine toxicity, caused by mutation in the TPMT gene. TPMT is part of a cascade of enzymes responsible for the metabolism of thiopurine drugs including azathioprine, mercaptopurine, and thioguanine. Recent studies identified germline NUDT15 variation as another critical determinant of thiopurine intolerance.
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
   先天性代謝異常
    5C55  プリン, ピリミジンまたはヌクレオチド代謝の先天性異常
     H00964  Poor metabolism of thiopurines
パスウェイ 
hsa00983  Drug metabolism - other enzymes
病因遺伝子 
(THPM1) TPMT [HSA:7172] [KO:K00569]
(THPM2) NUDT15 [HSA:55270] [KO:K03574]
リンク   
ICD-11: 5C55.0Y
MeSH: C536512
OMIM: 610460 616903
文献    
PMID:20354201 (THPM1)
  著者
Ford LT, Berg JD
  タイトル
Thiopurine S-methyltransferase (TPMT) assessment prior to starting thiopurine drug treatment; a pharmacogenomic test whose time has come.
  雑誌
J Clin Pathol 63:288-95 (2010)
DOI:10.1136/jcp.2009.069252
文献    
PMID:26878724 (THPM2)
  著者
Moriyama T, Nishii R, Perez-Andreu V, Yang W, Klussmann FA, Zhao X, Lin TN, Hoshitsuki K, Nersting J, Kihira K, Hofmann U, Komada Y, Kato M, McCorkle R, Li L, Koh K, Najera CR, Kham SK, Isobe T, Chen Z, Chiew EK, Bhojwani D, Jeffries C, Lu Y, Schwab M, Inaba H, Pui CH, Relling MV, Manabe A, Hori H, Schmiegelow K, Yeoh AE, Evans WE, Yang JJ
  タイトル
NUDT15 polymorphisms alter thiopurine metabolism and hematopoietic toxicity.
  雑誌
Nat Genet 48:367-73 (2016)
DOI:10.1038/ng.3508
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