Below is a summary for the PPP3CA gene observed in research publications. This is not meant to take the place of medical advice.

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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.

Key Role

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
  • Seizures
  • 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.


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 PPP3CA.


Research Article Summaries

We currently do not have any article summaries for PPP3CA, but we add resources to our website as they become available.

The information available about PPP3CA 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 PPP3CA articles can be found here.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight  team learn more about PPP3CA genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.


Family Stories

Stories from PPP3CA families:

Click here to share your family’s story!