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Genetic and Rare Diseases Information Center (GARD)

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Autosomal dominant pseudohypoaldosteronism type 1


Other Names for this Disease

  • PHA1A
  • Pseudohypoaldosteronism type 1 autosomal dominant
  • Pseudohypoaldosteronism type 1, dominant
  • Renal PHA1
  • Renal pseudohypoaldosteronism type 1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Autosomal dominant pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine, failure to thrive and dehydration. Patients typically present in the newborn period, improve with age, and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. Autosomal dominant pseudohypoaldosteronism type 1 (PHA1A) exhibits autosomal dominant inheritance with variable expression. It is caused by by mutations in the mineralocorticoid receptor gene (NR3C2).[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 Dominant. Oline Mendelian Inheritance in Man (OMIM). 2011; http://omim.org/entry/177735. Accessed 12/2/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Autosomal dominant 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.
  • 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 dominant pseudohypoaldosteronism type 1. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • PHA1A
  • Pseudohypoaldosteronism type 1 autosomal dominant
  • Pseudohypoaldosteronism type 1, dominant
  • Renal PHA1
  • Renal pseudohypoaldosteronism type 1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.