PPP2R5D

The information for this summary of PPP2R5D-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full PPP2R5D Gene Guide

The online Gene Guide includes more information about PPP2R5D-related syndrome such as the chance of having another child with this condition, behavior and development concerns linked to PPP2R5D-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

PPP2R5D-related syndrome is also called PPP2R5D-related neurodevelopmental disorder or Jordan’s syndrome. For this webpage, we will be using the name PPP2R5D-related syndrome to encompass the wide range of variants observed in the people identified.

Latest Quarterly Report | Download Report

The latest Simons Searchlight report includes updated information on your genetic community.

Please take our surveys to contribute to this research. If you are not yet registered, consider joining Simons Searchlight to be included in future reports!

View all reports below by clicking on “Previous Quarterly Reports” at the bottom of this page.

What is PPP2R5D-related syndrome?

PPP2R5D-related syndrome happens when there are changes to the PPP2R5D gene. These changes can keep the gene from working as it should.

Key Role

The PPP2R5D gene plays an important role in the development and function of brain cells.

Symptoms

Because the PPP2R5D gene is important for brain activity, many people who have PPP2R5D-related syndrome have:

  • Autism
  • Intellectual disability
  • Epilepsy
  • Low muscle tone
  • Delayed walking
  • Language impairment
  • Behavioral issues or impulses
  • Low blood pressure
  • Brain changes seen on magnetic resonance imaging (MRI)

How many people have PPP2R5D-related syndrome?

As of 2024, at least 138 people with PPP2R5D-related syndrome have been identified in a medical clinic and the Simons Searchlight registry.

+

Support Resources

+

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 PPP2R5D .

+

Research Article Summaries

Below, we have summarized research articles about changes in the PPP2R5D gene. We hope you find this information helpful. The information available about PPP2R5D 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 PPP2R5D articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

  • De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism Original research article by L. Shang et al. (2016) Read the abstract here and the Simons Searchlight summary here.
  • B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability Original research article by G. Houge et al. (2015) Read the abstract here and the Simons Searchlight summary here.
+

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about PPP2R5D 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 PPP2R5D  families:

Click here to share your family’s story!

+

Previous Quarterly Reports

+

Guidebook

Download a copy of the Jordan’s Syndrome PPP2R5D Care Before the Cure Guidebook