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.
Age of Onset
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.
X-linked 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.
Other Names (AKA)
Pseudoaldosteronism; Liddle's syndrome
Blood Diseases; Congenital and Genetic Diseases; Kidney and Urinary Diseases
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||
|80%-99% of people have these symptoms|
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
[ more ]
Low blood potassium levels
|30%-79% of people have these symptoms|
Disruption of blood oxygen supply to brain
[ more ]
Renal failure in adulthood
[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Decreased circulating aldosterone level||
Low blood aldosterone level
|Decreased circulating renin level||0003351|
Mutations in the SCNN1B and SCNN1G genes affect an important region of the protein involved in signaling for its breakdown (degradation). As a result of the mutations, the protein is not tagged for degradation when it is no longer needed, and more ENaC channels remain at the cell's surface. The increase in channels at the cell surface abnormally increases the reabsorption of sodium, which leads to
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
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 clinical picture resembles that of primary hyperaldosteronism (see this term) but the hormonal profile resembles that of hyporeninism-hypoaldosteronism (see this term).
Visit the Orphanet disease page for more information.
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.
American Heart Association
7272 Greenville Avenue
Dallas, TX 75231-4596
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.
- 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 Liddle syndrome. Click on the link to view a sample search on this topic.
- Liddle syndrome. Genetics Home Reference. March 2013; https://ghr.nlm.nih.gov/condition/liddle-syndrome#.
- William F. Young, Jr. Genetic disorders of the collecting tubule sodium channel: Liddle's syndrome and pseudohypoaldosteronism type 1. UpToDate. Waltham, MA: UpToDate; 2016;
- SCNN1B. Genetics Home Reference. March 2013; https://ghr.nlm.nih.gov/gene/SCNN1B.
- SCNN1G. Genetics Home Reference. March 2013; https://ghr.nlm.nih.gov/gene/SCNN1G.
- Rosa Vargas-Poussou. Liddle syndrome. Orphanet. August 2011; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=526.