CHAMP1

The information for this summary of CHAMP1-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our CHAMP1 Gene Guide

The online Gene Guide includes more information about CHAMP1 such as the chance of having another child with this condition, behavior and development concerns linked to CHAMP1-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

CHAMP1-related syndrome is also called neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features, or mental retardation 40. For this webpage, we will be using the name CHAMP1-related syndrome to encompass the wide range of variants observed in the people identified.

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What is CHAMP1-related syndrome?

CHAMP1-related syndrome happens when there are changes to the CHAMP1 gene. These changes can keep the gene from working as it should.

Key Role

The CHAMP1 gene plays a key role in the growth of brain cells. 

Symptoms

Because the CHAMP1 gene is important for brain activity, many people who have CHAMP1-related syndrome have: 

  • Intellectual disability 
  • Speech impairments 
  • Small head, also called microcephaly 
  • Low muscle tone 
  • Gastroesophageal reflux disease (GERD) 
  • Feeding difficulties 
  • Features of autism 
  • Movement issues, such as ataxia (uncoordinated walking) 
  • Seizures 
  • Eye and vision issues 
  • Sleep issues

How many people have CHAMP1-related syndrome?

As of 2024, over 53 people with CHAMP1-related syndrome have been identified in a medical clinic. 

Learn more about the CHAMP1 gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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Presentations

CHAMP1 2019 Virtual Family Meeting

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Research Article Summaries

Below, we have summarized research articles about changes in the CHAMP1 gene. We hope you find this information helpful. The information available about CHAMP1 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 CHAMP1 articles can be found here.

  • De novo truncating mutations in the kinetochore-microtubules attachment gene CHAMP1 cause syndromic intellectual disability Original research article by B. Isidor et al. (2016). Read the abstract here and read the Simons Searchlight summary here.
  • De novo mutations in CHAMP1 cause intellectual disability with severe speech impairment Original research article by M. Hempel et al. (2015). Read the article here and read the Simons Searchlight summary here.
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Research Opportunities

Simons Searchlight Help the Simons Searchlight team learn more about CHAMP1 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.

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Family Stories

Stories from CHAMP1 families:

Click here to share your family’s story!

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Previous Quarterly Reports