HIVEP2

Below is a summary for the HIVEP2 gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.

LATEST REGISTRY REPORT
Download the latest quarterly report here. The goal of this report is to share up-to-date data contributed by families. Sharing your information is very important to the longevity of our study. Your unique experience could hold the clues that scientists need to find answers for you and others with rare genetic disorders. If you want to be included in future reports, join Simons Searchlight today!

To view past registry reports go to the bottom of this page and click on the dropdown menu tab labeled “Previous Registry Reports.”

VOICE OF THE COMMUNITY REPORT
Download the Voice of the Community report here. The Simons Searchlight team is happy to share the results from a special survey called The Simons Searchlight Voice of the Community. The results include specific data and information about your community. We extend a big thank you to everyone who contributed their unique information and insight. We couldn’t have done this without you.

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 in the growth of the brain, many people who have HIVEP2-related syndrome have:

Intellectual disability
Behavior issues
Low muscle tone

Do people who have HIVEP2-related syndrome look different?

People who have HIVEP2-related syndrome may look different. Appearance can vary and can include these features:

High forehead
Wide-set eyes

Speech

Most people have speech impairments.

Learning

Most have moderate to severe intellectual disability.

Behavior

Some people have hyperactivity, impulsivity, or concentration problems.

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

Simons Searchlight Family & Research Conference 2020 HIVEP2 Virtual Conference

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.