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Diseases

Genetic and Rare Diseases Information Center (GARD)

Congenital hepatic fibrosis


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Overview

Congenital hepatic fibrosis is a rare disease of the liver that is present at birth. Symptoms include the following: a large liver, a large spleen, gastrointestinal bleeding caused by varices, increased pressure in the blood vessels that carry blood to the liver (portal hypertension), and scar tissue in the liver (fibrosis). Isolated congenital hepatic fibrosis is rare; it usually occurs as part of a syndrome that also affects the kidneys. There is no treatment to correct the fibrosis or the specific abnormalities in the blood vessels, but complications such as bleeding and infection can be treated.[1][2][3]
Last updated: 10/30/2015

References

  1. Shields, John and Gunay-Aygun, Meral. Congenital Hepaic Fibrosis. National Organization for Rare Disorders (NORD). 2015; http://rarediseases.org/rare-diseases/hepatic-fibrosis-congenital/. Accessed 10/30/2015.
  2. Gunay-Aygun, Meral, et al.. Congenital Hepatic Fibrosis Overview. GeneReviews. April, 2014; http://www.ncbi.nlm.nih.gov/books/NBK2701/. Accessed 10/30/2015.
  3. Congenital hepatic fibrosis. Genetics Home Reference. January, 2012:http://ghr.nlm.nih.gov/condition/congenital-hepatic-fibrosis. Accessed 10/30/2015.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Congenital hepatic fibrosis. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • 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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital hepatic fibrosis. Click on the link to view a sample search on this topic.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.