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.
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:
- Failure to thrive
- 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.
Research Article Summaries