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Disease Profile

Pseudohypoaldosteronism type 2

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.


US Estimated

Europe Estimated

Age of onset

All ages





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.


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.


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)

PHA2; Hyperpotassemia and hypertension familial; Gordon hyperkalemia-hypertension syndrome;


Congenital and Genetic Diseases; Heart Diseases; Kidney and Urinary Diseases;


Psuedohypoaldosteronism type 2 is an inborn error of metabolism.[1] It is characterized by high blood pressure, high levels of potassium in the body, and metabolic acidosis.[2] It is caused by mutations in the WNK1 or WNK4 gene.[2] Treatment may involve dietary restriction of sodium and hydrochlorothiazide.[3]


The most common symptom of pseudohypoaldosteronism type 2 is high blood pressure in adolescents or young adults.[3] In its most severe form, it is associated with muscle weakness, short stature, and intellectual impairment.[4]

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:
80%-99% of people have these symptoms
Elevated serum potassium levels
30%-79% of people have these symptoms
Nausea and vomiting
5%-29% of people have these symptoms
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality

[ more ]

Muscle weakness
Muscular weakness
Periodic paralysis
Short stature
Decreased body height
Small stature

[ more ]

Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
Hyperchloremic acidosis
Periodic hyperkalemic paralysis


Pseudohypoaldosteronism type 2 is caused by mutations in either the WNK1 or WNK4 genes.[2][4][5] Mutations in these genes cause salt retention and impaired excretion of potassium and acid, leading to high blood pressure, hyperkalemia (high levels of potassium), and metabolic acidosis.[2]


Pseudohypoaldosteronism type 2 is usually diagnosed in adults. Unexplained hyperkalemia may be the presenting symptom and Pseudohypoaldosteronism type 2 may be diagnosed after common causes of hyperkalemia have been ruled out. Mildly elevated levels of chloride ion in the blood, metabolic acidosis, and suppressed plasma renin activity are variably associated with this condition as well. Aldosterone levels may vary from high to low.[4]

Testing Resources

  • Orphanet lists international laboratories offering diagnostic testing for this condition.


    Pseudohypoaldosteronism may be treated with thiazide diuretics[4][5] and dietary restriction of sodium.[3]


    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

      Social Networking Websites

        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

        • Genetics Home Reference (GHR) contains information on Pseudohypoaldosteronism type 2. This website is maintained by the National Library of Medicine.

          In-Depth Information

          • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
          • 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 Pseudohypoaldosteronism type 2. Click on the link to view a sample search on this topic.


            1. Pseudohypoaldosteronism. National Library of Medicine Medical Subject Headings. 2008; https://www.nlm.nih.gov/cgi/mesh/2008/MB_cgi?mode=&index=11086&view=expanded. Accessed 12/2/2011.
            2. Greenbaum LA. Electrolyte and Acid-Base Disorders. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF eds. Kliegman: Nelson Textbook of Pediatrics, 18th ed. Philadelphia, PA: Saunders; 2007;
            3. Ferry RJ. Pseudohypoaldosteronism. eMedicine. 2010; https://emedicine.medscape.com/article/924100-overview. Accessed 12/2/2011.
            4. Bonnardeaux A, Bichet DG. Inherited disorders of the renal tubule. In: Brenner BM ed. Brenner: Brenner and Rector's The Kidney, 8th ed.. Philadelphia, PA: Saunders; 2008;
            5. Victor RG. Arterial hypertension . In: Goldman L, Ausiello D eds. Goldman: Cecil Medicine, 23rd ed. Philadelphia, PA: Saunders; 2007;

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