Pseudohypoaldosteronism type 1 autosomal dominant

Common Name(s)

Pseudohypoaldosteronism type 1 autosomal dominant

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).   
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pseudohypoaldosteronism type 1 autosomal dominant" for support, advocacy or research.

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Pseudohypoaldosteronism

We are a group of patients and parents who have been offering support to families with Pseudohypoaldosteronism (PHA) since 2011. PHA is rare yet an important diagnosis to keep on the differential with the patients that have failure to thrive and/or laboratory abnormalities that are associated with it. We would like to find and help those who have a possible diagnosis of PHA, new diagnosis of PHA or have been diagnosed with PHA for a sometime. Our group is formed by patients with PHA type 1, dominant and recessive¬ł and PHA type 2. Our group is composed by people from all over the world who speak several languages. We would love to embrace all those affected as well as anyone seeking information on this rare condition. We are eager to help you all and help the future generation of patients.

https://www.facebook.com/#!/Pseudohypoaldosteronism.PHA

Last Updated: 21 May 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pseudohypoaldosteronism type 1 autosomal dominant" for support, advocacy or research.

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Pseudohypoaldosteronism

We are a group of patients and parents who have been offering support to families with Pseudohypoaldosteronism (PHA) since 2011. PHA is rare yet an important diagnosis to keep on the differential with the patients that have failure to thrive and/or laboratory abnormalities that are associated with it. We would like to find and help those who have a possible diagnosis of PHA, new diagnosis of PHA or have been diagnosed with PHA for a sometime. Our group is formed by patients with PHA type 1, dominant and recessive¬ł and PHA type 2. Our group is composed by people from all over the world who speak several languages. We would love to embrace all those affected as well as anyone seeking information on this rare condition. We are eager to help you all and help the future generation of patients.

https://www.facebook.com/#!/Pseudohypoaldosteronism.PHA

Last Updated: 21 May 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pseudohypoaldosteronism type 1 autosomal dominant" returned 2 free, full-text research articles on human participants. First 3 results:

Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene.
 

Author(s): Kyoko Kanda, Kandai Nozu, Naoki Yokoyama, Ichiro Morioka, Akihiro Miwa, Yuya Hashimura, Hiroshi Kaito, Kazumoto Iijima, Masafumi Matsuo

Journal:

 

Autosomal dominant pseudohypoaldosteronism type 1 (PHA1) is a rare inherited condition that is characterized by renal resistance to aldosterone as well as salt wasting, hyperkalemia, and metabolic acidosis. Renal PHA1 is caused by mutations of the human mineralcorticoid receptor gene ...

Last Updated: 20 Nov 2009

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Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults.
 

Author(s): David S Geller, Junhui Zhang, Maria-Christina Zennaro, Alberto Vallo-Boado, Juan Rodriguez-Soriano, Laszlo Furu, Robert Haws, Daniel Metzger, Barbara Botelho, Lefkothea Karaviti, Andrea M Haqq, Howard Corey, Sandra Janssens, Pierre Corvol, Richard P Lifton

Journal: J. Am. Soc. Nephrol.. 2006 May;17(5):1429-36.

 

Autosomal dominant pseudohypoaldosteronism type 1 (adPHA1) is a rare condition that is characterized by renal resistance to aldosterone, with salt wasting, hyperkalemia, and metabolic acidosis. It is thought of as a mild disorder; affected children's symptoms respond promptly to salt ...

Last Updated: 25 Apr 2006

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Reviews from the PubMed Database

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The terms "Pseudohypoaldosteronism type 1 autosomal dominant" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.