PPP2R1A
Below is a summary of PPP2R1A-related syndrome observed in research publications. This is not meant to take the place of medical advice.
Click here for our full PPP2R1A Gene Guide
The online Gene Guide includes more information about PPP2R1A such as the chance of having another child with this condition, behavior and development concerns linked to PPP2R1A or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
PPP2R1A-related syndrome is also called PPP2R1A-related neurodevelopmental disorder or Houge-Janssens syndrome 2. For this webpage, we will be using the name PPP2R1A-related syndrome to encompass the wide range of variants observed in the people identified.
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What is PPP2R1A-related syndrome?
PPP2R1A–related syndrome happens when there are changes in the PPP2R1A gene. These changes can keep the gene from working as it should.
Key Role
The PPP2R1A gene plays an important role in the development and function of brain cells. The gene is called PPP2R1A, and the protein is called protein phosphatase 2A (PP2AA).
Symptoms
Because the PPP2R1A gene is important in brain activity, many people who have PPP2R1A-related syndrome have:
- Global developmental delay
- Intellectual disability
- Seizures
- Speech and language delay
- Delayed walking
- Lower than average muscle tone
- Larger than average head size or small head size
- Attention deficit hyperactivity disorder also, called ADHD
- Self-harming or destructive behavior
- Autism
- Anxiety
- Brain changes seen on magnetic resonance imaging (MRI)
- Feeding issues
- Heart issues
How many people have PPP2R1A-related syndrome?
As of 2024, at least 50 people with PPP2R1A-related syndrome have been identified in medical research.
Support Resources
- Simons Searchlight Community – PPP2R1A Facebook group
- 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. Check out the GeneReviews for PPP2R1A.
Research Article Summaries
We currently do not have any article summaries for PPP2R1A, but we add resources to our website as they become available.
The information available about PPP2R1A 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 PPP2R1A articles can be found here.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about PPP2R1A 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.