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


Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Caroli disease

Other Names for this Disease
  • Caroli disease isolated
  • Congenital polycystic dilatation of intrahepatic bile ducts
  • Cystic dilatation of the intrahepatic biliary tree
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.


Caroli disease is a rare disorder characterized by abnormal widening of the large intrahepatic bile ducts.[1][2] It may present with recurrent bacterial cholangitis, biliary stones causing biliary pain or episodes of pancreatitis. Age of onset is variable and mainly females are affected. The more common variant of this disease, Caroli syndrome, is characterized by dilations of the large bile duct in association with congenital hepatic fibrosis. Patients with Caroli syndrome may present with signs and symptoms of portal hypertension, bacterial cholangitis, hepatomegaly, splenomegaly, esophageal varices, and gastrointestinal hemorrhage. Caroli syndrome may be found in association with autosomal recessive polycystic kidney disease, autosomal dominant polycystic kidney disease, medullary sponge kidney, and medullary cystic disease.[1] Caroli disease may be sporadic or autosomal dominant, whereas Caroli syndrome is generally transmitted in an autosomal recessive manner.[1][2][3]
Last updated: 5/19/2011


  1. Caroli disease. Orphanet. October 2006; Accessed 5/18/2011.
  2. Caroli Disease. National Organization for Rare Disorders (NORD). 2006; Accessed 5/18/2011.
  3. Caroli Disease, Isolated. Online Mendelian Inheritance in Man (OMIM). 2011; Accessed 5/18/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Caroli disease have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an 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 Caroli disease. Click on the link to view a sample search on this topic.