KEGG   DISEASE: 石灰沈着性膵炎
エントリ  
H00932                                                             
名称    
石灰沈着性膵炎
概要    
Tropical calcific pancreatitis (TCP) is a subtype of chronic pancreatitis unique to developing countries in tropical regions. Patients present with recurrent abdominal pain, nutritional deficiencies, and insulin-requiring diabetes resulting from chronic pancreatitis before age 30. Several environmental and genetic factors are implicated in TCP.
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
  膵疾患
   DC32  慢性膵炎
    H00932  石灰沈着性膵炎
パスウェイ 
hsa04142  Lysosome
hsa04612  Antigen processing and presentation
病因遺伝子 
SPINK1 [HSA:6690] [KO:K23417]
CTRC [HSA:11330] [KO:K01311]
CTSB [HSA:1508] [KO:K01363]
リンク   
ICD-11: DC32.5
MeSH: C564276
OMIM: 608189
文献    
  著者
Witt H, Bhatia E
  タイトル
Genetic aspects of tropical calcific pancreatitis.
  雑誌
Rev Endocr Metab Disord 9:213-26 (2008)
DOI:10.1007/s11154-008-9088-y
文献    
  著者
Reddy DN, Prasad SS
  タイトル
Genetic basis of chronic pancreatitis in Asia Pacific region.
  雑誌
J Gastroenterol Hepatol 26 Suppl 2:2-5 (2011)
DOI:10.1111/j.1440-1746.2010.06598.x
文献    
PMID:12011155 (SPINK1)
  著者
Chandak GR, Idris MM, Reddy DN, Bhaskar S, Sriram PV, Singh L
  タイトル
Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis.
  雑誌
J Med Genet 39:347-51 (2002)
DOI:10.1136/jmg.39.5.347
文献    
PMID:18059268 (CTRC)
  著者
Rosendahl J, Witt H, Szmola R, Bhatia E, Ozsvari B, Landt O, Schulz HU, Gress TM, Pfutzer R, Lohr M, Kovacs P, Bluher M, Stumvoll M, Choudhuri G, Hegyi P, te Morsche RH, Drenth JP, Truninger K, Macek M Jr, Puhl G, Witt U, Schmidt H, Buning C, Ockenga J, Kage A, Groneberg DA, Nickel R, Berg T, Wiedenmann B, Bodeker H, Keim V, Mossner J, Teich N, Sahin-Toth M
  タイトル
Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.
  雑誌
Nat Genet 40:78-82 (2008)
DOI:10.1038/ng.2007.44
文献    
PMID:16492714 (CTSB)
  著者
Mahurkar S, Idris MM, Reddy DN, Bhaskar S, Rao GV, Thomas V, Singh L, Chandak GR
  タイトル
Association of cathepsin B gene polymorphisms with tropical calcific pancreatitis.
  雑誌
Gut 55:1270-5 (2006)
DOI:10.1136/gut.2005.087403
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