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Disease Profile
Caroli disease
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
All ages
ICD-10
Q44.6
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Congenital polycystic dilatation of intrahepatic bile ducts; Caroli disease isolated; Cystic dilatation of the intrahepatic biliary tree
Categories
Congenital and Genetic Diseases; Digestive Diseases
Summary
Caroli disease is a condition characterized by an abnormal widening of the intrahepatic bile ducts (the ducts that carry bile from the liver) and renal cysts. People affected by this condition experience recurrent episodes of cholestasis, stone development in the bile ducts, and bacterial cholangitis. In addition to the symptoms of Caroli disease, people affected by Caroli
Symptoms
In addition to the symptoms outlined above, people affected by Caroli
People affected by Caroli disease and Caroli syndrome may also have an increased risk of developing cholangiocarcinoma.[3]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Cholangitis |
Bile duct inflammation
|
0030151 |
Epigastric pain | 0410019 | |
Esophageal varix |
Enlarged vein in esophagus
|
0002040 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Liver abscess | 0100523 | |
Portal hypertension | 0001409 | |
Recurrent fever |
Episodic fever
Increased body temperature, episodic
Intermittent fever
[ more ] |
0001954 |
Vascular dilatation |
Wider than typical opening or gap
|
0002617 |
Vomiting |
Throwing up
|
0002013 |
Cause
Caroli syndrome, on the other hand, is often associated with
Diagnosis
Treatment
People who have recurrent infections, especially those who also have complications related to portal
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
The differential diagnosis should include primary sclerosing cholangitis, isolated polycystic liver disease, and hepatic cystic hamartoma (see these terms), as well as hepatic and choledochal cysts.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
ARPKD/CHF Alliance
PO Box 70
Kirkwood, PA 17536
Toll-free: 800-708-8892
Telephone: 717-529-5555
E-mail: [email protected]
Website: https://www.arpkdchf.org
Organizations Providing General Support
-
American Liver Foundation
39 Broadway, Suite 2700
New York, NY 10006
Toll-free: +1-800-465-4837 (Helpline)
Telephone: +1-212-668-1000
E-mail: https://liverfoundation.org/for-patients/contact-us/
Website: https://liverfoundation.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- 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
- 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 Caroli disease. Click on the link to view a sample search on this topic.
References
- Mutaz I Sultan, MBChB, MD. Pediatric Caroli Disease. Medscape Reference. July 2016; https://emedicine.medscape.com/article/927248-overview.
- Frederick J Suchy, MD, FAASLD. Caroli disease. UpToDate. June 2017; Accessed 7/16/2017.
- Liang JJ, Kamath PS. Caroli syndrome. Mayo Clin Proc. June 2013; 88(6):e59.
- Torra R, Badenas C, Darnell A, BrúC, Escorsell A, Estivill X. Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation. Kidney Int. 1997; 52(1):33.
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