ADNP

Below is a summary for the ADNP gene observed in research publications. This is not meant to take the place of medical advice.

Click here for our full ADNP Gene Guide

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

ADNP-related syndrome is also called Helsmoortel-Van der Aa syndrome. For this webpage, we will be using the name ADNP-related syndrome to encompass the wide range of variants observed in the people identified.

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What is ADNP-related syndrome?

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

Key Role

The ADNP gene plays a key role in the brain and body, including the heart and intestines.

Symptoms

Because the ADNP gene is important in the development and function of brain cells, many people who have ADNP-related syndrome have:

Developmental delay, or intellectual disability, or both
Speech and language delay
Autism or symptoms of autism
Other behavior issues (anxiety, ADHD, OCD, aggressive behavior)
Distinctive facial features
Heart problems
Vision problems like farsightedness or crossed eyes
Sleep difficulties
Seizures
Musculoskeletal problems (joint laxity, hand and foot defects, etc.)
Motor delay
Endocrine issues
Renal problems
Hearing loss
Recurrent infections
High pain tolerance
Gastrointestinal problems like feeding difficulties, GERD, constipation

How many people have ADNP-related syndrome?

As of 2024, at least 133 people with ADNP-related syndrome have been identified in a medical clinic.

Support Resources

Simons Searchlight Community – ADNP Facebook group
ADNP Kids Research Foundation Website – ADNPFoundation.org
Unique – ADNP Guidebook
Geisinger Developmental Brain Disorder Gene Database – ADNP

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 ADNP.

Research Article Summaries

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

ADNP – Brain development gene emerges as strong autism gene candidate News article by Kate Yandell in the Simons Foundation’s online publication Spectrum. Read the article here and the Simons Searchlight summary here.
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP Original research article by Helsmoortel C., et al. (2014). Read the abstract here and the Simons Searchlight summary here.

Research Opportunities

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

TIGER Study The University of Washington’s Autism Center seeks to better understand the medical, learning, and behavioral features of people with changes in ADNP. Click here to learn more about this opportunity. *This study is not affiliated with Simons Searchlight.

ADNP Research Project Registry affiliated with Dr. Kooy and Dr. Eichler Find more information about this registry here. For specific information about features seen in 12 patients with ADNP gene changes, click on “Clinical Features” on the main page. This summary of information is particularly helpful for families, researchers, and clinicians. *This study is not affiliated with Simons Searchlight.

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.