Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Progressive familial intrahepatic cholestasis type 2


Other Names for this Disease
  • PFIC2
  • Severe ABCB11 deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare condition that affects the liver. People with this condition generally develop signs and symptoms during infancy, which may include severe itching, jaundice, failure to thrive, portal hypertension (high blood pressure in the vein that provides blood to the liver) and hepatosplenomegaly (enlarged liver and spleen). PFIC2 generally progresses to liver failure in the first few years of life. Affected people also have an increased risk of developing hepatocellular carcinoma (a form of liver cancer). PFIC2 is caused by change (mutations) in the ABCB11 gene and is inherited in an autosomal recessive manner. Treatment may include ursodeoxycholic acid therapy to prevent liver damage, surgery and/or liver transplantation.[1][2][3]
Last updated: 11/4/2015

References

  1. Progressive familial intrahepatic cholestasis type 2. Orphanet. May 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79304.
  2. Kennedy M. Progressive Familial Intrahepatic Cholestasis. Medscape Reference. August 2013; http://emedicine.medscape.com/article/932794-overview.
  3. Progressive familial intrahepatic cholestasis. Genetics Home Reference. December 2009; http://ghr.nlm.nih.gov/condition/progressive-familial-intrahepatic-cholestasis.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Contact GARD
Contact GARD
Contact a GARD Information Specialist with your questions about this condition.

Basic Information

  • Genetics Home Reference (GHR) contains information on Progressive familial intrahepatic cholestasis type 2. This website is maintained by the National Library of Medicine.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Progressive familial intrahepatic cholestasis type 2. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • PFIC2
  • Severe ABCB11 deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.