Below is a summary for the NR3C2 gene observed in research publications. This is not meant to take the place of medical advice.

What is pseudohypoaldosteronism type I?

Pseudohypoaldosteronism type I most often happens when there are changes in the NR3C2 gene. These changes can keep the gene from working as it should.

Key Role

The NR3C2 gene plays an important role in controlling salt levels in the body.


Because the NR3C2 gene is important for many parts of the body, some people may have:

  • Autism
  • Failure to thrive
  • Hypotension
  • Vomiting and diarrhea
  • The inability of the body to retain salt in the kidneys, salivary glands, sweat glands, and colon

Do people who have pseudohypoaldosteronism type I look different?

People who have pseudohypoaldosteronism type I do not look different.

How many people have pseudohypoaldosteronism type I?

As of 2022, at least 40 people with pseudohypoaldosteronism type I have been described in medical research. This condition happens in about 1 in every 80,000 newborns.


Support Resources



GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

There is currently no GeneReviews for NR3C2.


Research Article Summaries

We currently do not have any article summaries for NR3C2, but we add resources to our website as they become available.

The information available about NR3C2 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for NR3C2 articles can be found here.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight  team learn more about NR3C2 genetic changes by taking part in our research. You can learn more about the project and sign up here.


Family Stories

We do not currently have any stories from NR3C2 families.

Click here to share your family’s story!