PPP3CA
The information for this summary of PPP3CA-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full PPP3CA Gene Guide
The online Gene Guide includes more information about PPP3CA such as the chance of having another child with this condition, behavior and development concerns linked to PPP3CA-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
PPP3CA-related syndrome is also called developmental and epileptic encephalopathy 91. For this webpage, we will be using the name PPP3CA-related syndrome to encompass the wide range of variants observed in the people identified.
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What is PPP3CA-related syndrome?
PPP3CA-related syndrome happens when there are changes in 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.
Symptoms
Because the PPP3CA gene is important for brain activity, many people who have PPP3CA-related syndrome have:
- Kidney and urinary issues
- Poor feeding
- Low muscle tone
- Developmental delay
- Intellectual disability
- Features of autism
- Seizures
- Brain changes seen on magnetic resonance imaging (MRI)
- Difficulty speaking
- Unsteady walking
- Bone defects
How many people have PPP3CA-related syndrome?
As of 2024, over 42 people with PPP3CA-related syndrome have been identified in a medical clinic.
Support Resources
- Simons Searchlight Community – PPP3CA Facebook group
- PPP3CA Facebook group – PPP3CA Hope Foundation
- Website – PPP3CA website
Other
- PPP2R5D Foundation Website – JordansGuardianAngels.org
GeneReviews
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.