Diseases Studied

The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.

This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.

All Diseases > Pseudohypoaldosteronism

Pseudohypoaldosteronism (PHA)

Disease Category: Genetic Mucociliary Disorders

A multisystemic, metabolic disorder divided into two types. Type 1 is characterized by hyponatremia (low blood sodium levels) due to loss of excessive amounts of sodium in urine, sweat, stool, and saliva. Type 2 is characterized by hypertension (high blood pressure) and hyperkalemia (high blood potassium levels) due to problems regulating sodium and potassium. Symptoms of this disorder mimic (pseudo) low levels (hypo) of aldosterone, the hormone that regulates sodium; however, in actuality, aldosterone levels are high.

Research groups studying this disease

Genetic Mucociliary Disorders
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Genetic Disorders of Mucociliary Clearance Consortium (GDMCC)

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