HIVEP2

The information for this summary of HIVEP2-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full HIVEP2 Gene Guide

The online Gene Guide includes more information about HIVEP2 such as the chance of having another child with this condition, behavior and development concerns linked to HIVEP2-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

HIVEP2-related syndrome is also called intellectual developmental disorder, autosomal dominant 43. For this webpage, we will be using the name HIVEP2-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 HIVEP2-related syndrome?

HIVEP2-related syndrome happens when there are changes to the HIVEP2 gene. These changes can keep the gene from working as it should.

Key Role

The HIVEP2 gene plays a key role in the growth of the brain.

Symptoms

Because the HIVEP2 gene is important for brain activity, many people who have HIVEP2-related syndrome have:

Intellectual disability
Global developmental delay
Behavior issues
Lower than average muscle tone
Poor or absent speech
Seizures
Anxiety
Brain changes seen on magnetic resonance imaging (MRI)
Poor feeding

How many people have HIVEP2-related syndrome?

As of 2024, at least 58 people with HIVEP2-related syndrome have been identified in a medical clinic. The first case of HIVEP2-related syndrome was described in 2015.

Support Resources

Simons Searchlight Community – HIVEP2 Facebook group
Geisinger Developmental Brain Disorder Gene Database – HIVEP2

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 HIVEP2.

Presentations

Simons Searchlight Family Research Conference 2022 Registry Update

Registry Update Slide Deck

Simons Searchlight Family & Research Conference 2021 HIVEP2 Virtual Conference

By clicking to watch this video, you agree to our privacy policy.

Simons Searchlight Family & Research Conference 2020 HIVEP2 Virtual Conference

By clicking to watch this video, you agree to our privacy policy.

Research Article Summaries

Below, we have summarized research articles about changes in the HIVEP2 gene. We hope you find this information helpful. The information available about HIVEP2 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 HIVEP2 articles can be found here.

Mutations in HIVEP2 are associated with developmental delay, intellectual disability and dysmorphic features Original research article by H. Steinfield et al. (2016). Read the article here and the Simons Searchlight summary here.
Loss-of-function variants in HIVEP2 are a cause of intellectual disability Original research article by S. Srivastava et al. (2016). Read the abstract here and the Simons Searchlight summary here.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about HIVEP2 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.