ANK3

The information for this summary of ANK3-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full ANK3 Gene Guide

The online Gene Guide includes more information about ANK3 such as the chance of having another child with this condition, behavior and development concerns linked to ANK3-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

ANK3-related syndrome is also called intellectual developmental disorder, autosomal recessive 37. For this webpage, we will be using the name ANK3-related syndrome to encompass the wide range of variants observed in the people identified.

What is ANK3-related disorder?

ANK3–related syndrome happens when there are genetic variants in both copies of the ANK3 gene or one loss of function variant in this gene. These variants can keep the gene from working as it should, and they can lead to brain development or function issues.

Key Role

The ANK3 gene plays a role in cell-to-cell contact, division, and movement.

Symptoms

Because the ANK3 gene is important in brain development and function, many people who have ANK3-related syndrome have:

  • Developmental delay
  • Intellectual disability
  • Sleep issues
  • Seizures
  • Lower than average muscle tone
  • Aggressive behavior

How many people have a de novo gene change in the ANK3 gene?

As of 2024, at least 20 people with ANK3-related syndrome have been described in medical research.

Learn more about the ANK3 gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

  • Simons Searchlight Community – ANK3 Facebook group
  • Geisinger Developmental Brain Disorder Gene Database – ANK3
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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 ANK3.

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Research Article Summaries

We currently do not have any article summaries for ANK3, but we add resources to our website as they become available.

The information available about ANK3 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 ANK3 articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about ANK3 genetic changes by taking part in our research. You can learn more about the project and sign up here.

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Family Stories

We do not currently have any stories from ANK3 families.

Click here to share your family’s story!