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Disease Profile
Polycystic liver 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.
1-9 / 100 000
Age of onset
Adult
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)
Isolated polycystic liver disease; Isolated autosomal dominant polycystic liver disease; PCLD
Categories
Congenital and Genetic Diseases; Digestive Diseases
Summary
Polycystic liver disease is an
Symptoms
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Abdominal distention |
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating
[ more ] |
0003270 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Polycystic liver disease | 0006557 | |
30%-79% of people have these symptoms | ||
Multiple renal cysts |
Multiple kidney cysts
|
0005562 |
5%-29% of people have these symptoms | ||
Abdominal pain |
Pain in stomach
Stomach pain
[ more ] |
0002027 |
Abnormality of the pancreas | 0001732 | |
Back pain | 0003418 | |
Elevated alkaline phosphatase |
Greatly elevated alkaline phosphatase
High serum alkaline phosphatase
Increased alkaline phosphatase
Increased serum alkaline phosphatase
[ more ] |
0003155 |
Feeding difficulties in infancy | 0008872 | |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Gastrointestinal hemorrhage |
Gastrointestinal bleeding
|
0002239 |
Increased total bilirubin |
High bili total
|
0003573 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Vascular dilatation |
Wider than typical opening or gap
|
0002617 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the cardiovascular system |
Cardiovascular abnormality
|
0001626 |
Abnormality of the nervous system |
Neurologic abnormalities
Neurological abnormality
[ more ] |
0000707 |
Adult onset |
Symptoms begin in adulthood
|
0003581 |
Ascites |
Accumulation of fluid in the abdomen
|
0001541 |
0000006 | ||
Dyspnea |
Trouble breathing
|
0002094 |
Renal cyst |
Kidney cyst
|
0000107 |
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
|
---|
Differential diagnoses include multiple liver cysts, found in association with autosomal dominant polycystic kidney disease (ADPKD; see this term), but PCLD is genetically distinct from ADPKD with liver cysts. Simple liver cysts are also a differential diagnosis. Caroli disease (see this term), characterized by cysts communicating with the biliary tract, is differentiated by using imaging with contrast agents specifically excreted into the bile.
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 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 Polycystic liver disease. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Gordon SC. Polycystic Liver Disease. Gastroenterol Hepatol (N Y). 2015 Aug; 11(8): 542–544.
References
- Polycystic Liver Disease. National Organization for Rare Disorders (NORD). 2005; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/665/viewAbstract. Accessed 6/22/2011.