PPP2CA

The information for this summary of PPP2CA-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full PPP2CA Gene Guide

The online Gene Guide includes more information about PPP2CA such as the chance of having another child with this condition, behavior and development concerns linked to PPP2CA or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

PPP2CA-related syndrome is also called Houge-Janssens syndrome 3. For this webpage, we will be using the name PPP2CA-related syndrome to encompass the wide range of variants observed in the people identified.

What is PPP2CA-related syndrome?

PPP2CA–related syndrome happens when there are changes in the PPP2CA gene. These changes can keep the gene from working as it should.

Key Role

The PPP2CA gene plays an important role in the development and function of brain cells.

Symptoms

Because the PPP2CA gene is important in brain activity, many people who have PPP2CA-related syndrome have:

  • Global developmental delay
  • Intellectual disability
  • Speech delay
  • Mild delay in walking
  • Autism
  • Brain changes seen on magnetic resonance imaging (MRI)
  • Feeding challenges

How many people have PPP2CA-related syndrome?

As of 2024, at least 38 people with PPP2CA-related syndrome have been identified in a medical clinic.

Learn more about the PPP2CA gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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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 are currently no GeneReviews for PPP2CA.

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Research Article Summaries

Below, we have summarized research articles about changes in the PPP2CA gene. We hope you find this information helpful. The information available about PPP2CA is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this 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 PPP2CA articles can be found here.

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Research Opportunities

Simons Searchlight Help the Simons Searchlight team learn more about PPP2CA genetic changes by taking part in our research. You can learn more about the project and sign up here.

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Family Stories

We do not currently have any stories from PPP2CA families.

Click here to share your family’s story!