Learn About Pseudohypoaldosteronism Type 2

What is the definition of Pseudohypoaldosteronism Type 2?

Pseudohypoaldosteronism type 2 (PHA2) is caused by problems that affect regulation of the amount of sodium and potassium in the body. Sodium and potassium are important in the control of blood pressure, and their regulation occurs primarily in the kidneys.

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What are the causes of Pseudohypoaldosteronism Type 2?

PHA2 can be caused by mutations in the WNK1, WNK4, CUL3, or KLHL3 gene. These genes play a role in the regulation of blood pressure.

How prevalent is Pseudohypoaldosteronism Type 2?

PHA2 is a rare condition; however, the prevalence is unknown.

Is Pseudohypoaldosteronism Type 2 an inherited disorder?

This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases caused by mutations in the WNK1, WNK4, or KLHL3 gene, an affected person inherits the mutation from one affected parent. While some cases caused by CUL3 gene mutations can be inherited from an affected parent, many result from new mutations in the gene and occur in people with no history of the disorder in their family.

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What are the latest Pseudohypoaldosteronism Type 2 Clinical Trials?
Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome

Summary: The purpose of this study is to establish a registry of individuals with Chopra-Amiel-Gordon Syndrome to learn more about the range of symptoms, changes in the structure of the brain seen on imaging, and learning difficulties that individuals with this disorder may experience. The investigators will obtain medical history, family history, MRI records, patient photographs, and genetic test results ...

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Who are the sources who wrote this article ?

Published Date: March 01, 2016Published By: National Institutes of Health

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