National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Pseudohypoaldosteronism type 2



Other Names:
PHA2; Hyperpotassemia and hypertension familial; Gordon hyperkalemia-hypertension syndrome; PHA2; Hyperpotassemia and hypertension familial; Gordon hyperkalemia-hypertension syndrome; Chloride shunt syndrome See More
Categories:

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]
Last updated: 12/2/2011

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]
Last updated: 12/2/2011

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.

Showing of 11 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Hyperkalemia
Elevated serum potassium levels
0002153
Hypertension 0000822
30%-79% of people have these symptoms
Nausea and vomiting 0002017
5%-29% of people have these symptoms
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ]
0000682
Muscle weakness
Muscular weakness
0001324
Periodic paralysis 0003768
Short stature
Decreased body height
Small stature
[ more ]
0004322
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Hyperchloremic acidosis 0001995
Periodic hyperkalemic paralysis 0007215
Pseudohypoaldosteronism 0008242
Showing of 11 |
Last updated: 7/1/2020

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]
Last updated: 12/2/2011

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]
Last updated: 12/2/2011

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]
Last updated: 12/2/2011

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


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 diagnosis includes other causes of hyperkalemia, notably chronic kidney disease. If GFR is normal, differential diagnoses include hyperkalemic renal tubular acidosis, as seen with PHA1, hypoaldosteronism, primary adrenal insufficiency, and hyperkalemia secondary to medication (e.g. potassium-sparing diuretics, nonsteroidal anti-inflammatory drugs, angiotensin inhibitors, trimethoprim, these forms of hyperkalemic RTA are typically associated with hypovolemia and low blood pressure. An acquired form of PHA2 can be seen with calcineurin inhibitors, especially tacrolimus.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Patient Registry


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


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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My friend is 48-years-old and has had hypertension for more than 15 years. Her potassium levels are always elevated and her doctors do not know why. Her serum creatinin is normal. Do you think she has pseudohypoaldosteronism type II? See answer



  1. Pseudohypoaldosteronism. National Library of Medicine - Medical Subject Headings. 2008; http://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; http://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;