Autosomal recessive pseudohypoaldosteronism type 1
Other Names for this Disease
- Pseudohypoaldosteronism type 1 autosomal recessive
- Pseudohypoaldosteronism type 1, recessive
- Generalized pseudohypoaldosteronism type 1
- Generalized PHA1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
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).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
Last updated: 12/2/2011
- Zennaro MC. Pseudohypoaldosteronism type 1. Orphanet. 2009; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=17947&Disease_Disease_Search_diseaseGroup=Pseudohypoaldosteronism-type-1&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Renal-pseudohypoaldosteronism-type-. Accessed 12/2/2011.
- Pseudohypoaldosteronism, Type I, Autosomal Recessive. Online Mendelian Inheritance in Man (OMIM). 2011; http://omim.org/entry/264350. Accessed 12/2/2011.
- Genetics Home Reference (GHR) contains information on Autosomal recessive pseudohypoaldosteronism type 1. This website is maintained by the National Library of Medicine.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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 Autosomal recessive pseudohypoaldosteronism type 1. Click on the link to view a sample search on this topic.