KEGG   DISEASE: 家族性肝硬変
エントリ  
H02225                                                             
名称    
家族性肝硬変
  下位グループ
特発性銅中毒症
概要    
Familial cirrhosis is a condition that is associated with the presence of liver disease with genetic linkage among multiple family members in a generation or in multiple generations. The well-documented causes of familial cirrhosis are mutations of keratin 8 and 18 gene. They are the cytoskeletal intermediate filament proteins of hepatocytes, and protect the liver from various forms of injury. It has been shown that KRT8 or KRT18 mutations predispose the liver to acute or subacute injury and promote apoptosis and fibrosis.
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
  肝疾患
   DB93  肝線維症または肝硬変
    H02225  家族性肝硬変
病因遺伝子 
KRT8 [HSA:3856] [KO:K07605]
KRT18 [HSA:3875] [KO:K07604]
リンク   
ICD-11: DB93.21
MeSH: C566123
OMIM: 215600
文献    
  著者
Zatloukal K, Stumptner C, Fuchsbichler A, Fickert P, Lackner C, Trauner M, Denk H
  タイトル
The keratin cytoskeleton in liver diseases.
  雑誌
J Pathol 204:367-76 (2004)
DOI:10.1002/path.1649
文献    
  著者
Ku NO, Strnad P, Zhong BH, Tao GZ, Omary MB
  タイトル
Keratins let liver live: Mutations predispose to liver disease and crosslinking generates Mallory-Denk bodies.
  雑誌
Hepatology 46:1639-49 (2007)
DOI:10.1002/hep.21976
文献    
  著者
Ku NO, Darling JM, Krams SM, Esquivel CO, Keeffe EB, Sibley RK, Lee YM, Wright TL, Omary MB
  タイトル
Keratin 8 and 18 mutations are risk factors for developing liver disease of multiple etiologies.
  雑誌
Proc Natl Acad Sci U S A 100:6063-8 (2003)
DOI:10.1073/pnas.0936165100
文献    
  著者
Abby Philips C, Agarwal M, Phadke N, Rajesh S, Padsalgi G, Ahamed R, Augustine P
  タイトル
A Novel Phosphoinositide-3-kinase Adapter Protein 1 Gene Missense Mutation in Familial Cirrhosis.
  雑誌
J Clin Exp Hepatol 9:652-656 (2019)
DOI:10.1016/j.jceh.2019.02.002
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