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Genetic and Rare Diseases Information Center (GARD)

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Autosomal recessive pseudohypoaldosteronism type 1


Other Names for this Disease

  • Generalized PHA1
  • Generalized pseudohypoaldosteronism type 1
  • PHA1B
  • Pseudohypoaldosteronism type 1 autosomal recessive
  • Pseudohypoaldosteronism type 1, recessive
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Overview

Autosomal recessive pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially dangerous in the newborn period. Laboratory tests may show hyponatremia, hyperkalemia, and increased plasma renin activity with high levels of aldosterone in the blood. Respiratory tract infections are common in affected children. Treatment involves aggressive salt replacement and control of hyperkalemia. The disorder may become less severe with age. Autosomal recessive pseudohypoaldosteronism type 1 (PHA1B) is transmitted in an autosomal recessive manner and is caused by mutations in the genes coding for the subunits of the amiloride-sensitive sodium channel (SCNN1A, SCNN1B and SCNN1G).[1][2]
Last updated: 12/2/2011

References

  1. Zennaro MC. Pseudohypoaldosteronism type 1. Orphanet. 2009; http://www.orphanet.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=756. Accessed 12/2/2011.
  2. Pseudohypoaldosteronism, Type I, Autosomal Recessive. Online Mendelian Inheritance in Man (OMIM). 2011; http://omim.org/entry/264350. Accessed 12/2/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Autosomal recessive pseudohypoaldosteronism type 1. This website is maintained by the National Library of Medicine.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The 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 Autosomal recessive pseudohypoaldosteronism type 1. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Generalized PHA1
  • Generalized pseudohypoaldosteronism type 1
  • PHA1B
  • Pseudohypoaldosteronism type 1 autosomal recessive
  • Pseudohypoaldosteronism type 1, recessive
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.