Rare Rheumatology News
Advertisement
Disease Profile
Hepatopulmonary syndrome
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.
#N/A
Age of onset
#N/A
ICD-10
#N/A
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
Summary
Hepatopulmonary
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
-
Canadian Hepatopulmonary Syndrome (HPS) Program
6th Floor Donnelly Wing 30 Bond Street Toronto, ON M5B 1W8
2nd Floor, Marie-Morin Pavillion 3840, rue Saint-Urbain Montréal, QC H2W 1T8
Canada
Telephone: 416-864-6060 ext. 2252 (Toronto) and 514-890-8000 ext. 15672 (Montreal)
Website: https://hpscare.com/
The Canadian Hepatopulmonary Syndrome (HPS) Program is a specialized Canadian clinical and research program for patients with hepatopulmonary syndrome. The program is part of the Rare Lung Diseases program. The Program's clinics are located at Toronto and Montreal.
References
- Grilo-Bensusan I & Pascasio-Acevedo JM. Hepatopulmonary syndrome: What we know and what we would like to know. World Journal of Gastroenterology. 2016; 22(25):5728-5741. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4932208/.
- Gladwin MT & Myers JD. Hepatopulmonary Syndrome. Consumer version Merck Manual. https://www.merckmanuals.com/home/lung-and-airway-disorders/pulmonary-hypertension/hepatopulmonary-syndrome.
- Lange PA & Stoller JK. Hepatopulmonary syndrome in adults: Prevalence, causes, clinical manifestations, and diagnosis. UpToDate. December 21, 2016; https://www.uptodate.com/contents/hepatopulmonary-syndrome-in-adults-prevalence-causes-clinical-manifestations-and-diagnosis.