Below is a summary for the PPP3CA gene observed in research publications. This is not meant to take the place of medical advice.
This latest report includes updated information about Simons Searchlight participants with PPP3CA-related syndrome using insights by families like yours.
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View all reports below by clicking on “Previous Registry Reports” at the bottom of this page.
What is PPP3CA-related syndrome?
PPP3CA-related syndrome happens when there are changes to the PPP3CA gene. These changes can keep the gene from working as it should.
The PPP3CA gene plays an important role in brain cell communication.
Because the PPP3CA gene is important for many parts of the body, some people may have:
- Kidney and urinary issues
- Poor feeding
- Low muscle tone
- Intellectual disability
- Autistic features
- Brain matter changes visible on magnetic resonance imaging (MRI)
- Difficulty speaking
- Unsteady walking
- Bone defects
Do people who have PPP3CA-related syndrome look different?
People who have PPP3CA-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Lower than average weight
- Lower than average height
- Wide-set eyes
How many people have PPP3CA-related syndrome?
As of 2022, at least 17 people with PPP3CA-related syndrome have been described in medical research.
Research Article Summaries
Previous Registry Reports