KEGG DISEASE: Familial cirrhosis

KEGG

DISEASE: Familial cirrhosis

Entry

H02225                      Disease

Name

Familial cirrhosis

Subgroup

Idiopathic copper toxicosis

Description

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.

Category

Digestive system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
13 Diseases of the digestive system
  Diseases of liver
   DB93  Hepatic fibrosis or cirrhosis
    H02225  Familial cirrhosis

Gene

KRT8 [HSA:3856] [KO:K07605]
KRT18 [HSA:3875] [KO:K07604]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Zatloukal K, Stumptner C, Fuchsbichler A, Fickert P, Lackner C, Trauner M, Denk H

Title

The keratin cytoskeleton in liver diseases.

Journal

J Pathol 204:367-76 (2004)
DOI:10.1002/path.1649

Reference

Authors

Ku NO, Strnad P, Zhong BH, Tao GZ, Omary MB

Title

Keratins let liver live: Mutations predispose to liver disease and crosslinking generates Mallory-Denk bodies.

Journal

Hepatology 46:1639-49 (2007)
DOI:10.1002/hep.21976

Reference

Authors

Ku NO, Darling JM, Krams SM, Esquivel CO, Keeffe EB, Sibley RK, Lee YM, Wright TL, Omary MB

Title

Keratin 8 and 18 mutations are risk factors for developing liver disease of multiple etiologies.

Journal

Proc Natl Acad Sci U S A 100:6063-8 (2003)
DOI:10.1073/pnas.0936165100

Reference

Authors

Abby Philips C, Agarwal M, Phadke N, Rajesh S, Padsalgi G, Ahamed R, Augustine P

Title

A Novel Phosphoinositide-3-kinase Adapter Protein 1 Gene Missense Mutation in Familial Cirrhosis.

Journal

J Clin Exp Hepatol 9:652-656 (2019)
DOI:10.1016/j.jceh.2019.02.002

LinkDB

» Japanese version

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