PTCHD1
The information for this summary of PTCHD1-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full PTCHD1 Gene Guide
The online Gene Guide includes more information about PTCHD1 such as the chance of having another child with this condition, behavior and development concerns linked to PTCHD1-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
What is PTCHD1-related syndrome?
PTCHD1-related syndrome happens when there are changes in the PTCHD1 gene. These changes can keep the gene from working as it should.
The PTCHD1 gene is located on the X chromosome. Chromosomes are structures in our cells that house our genes. Only males who carry the genetic variation have the condition.
PTCHD1-related syndrome can also happen when larger segments of DNA are deleted within the Xp22.11 region. In these instances, the disorder is called Xp22.11 deletion syndrome.
Key Role
The PTCHD1 gene plays a key role in brain development and the function of brain cells.
Symptoms
Because the PTCHD1 gene is important for brain activity, many people who have PTCHD1-related syndrome have:
- Failure to thrive
- Autism
- Developmental delay
- Intellectual disability
- Larger than average head size, also called macrocephaly
- Smaller than average head size, also called microcephaly
- Low muscle tone, also called hypotonia
- High muscle tone, also called hypertonia
- Poor balance and gait defects
- Behavioral issues, such as mood disorders, aggression, and impulsivity
- Vision issues
How many people have PTCHD1-related syndrome?
As of 2024, over 30 people with PTCHD1-related syndrome have been described in medical research. This includes people with pathogenic or likely pathogenic variants in the PTCHD1 gene and people with larger deletions that include the PTCHD1 gene.
Support Resources
- Simons Searchlight Community – PTCHD1 Facebook group
- PTCHD1 Families – Facebook group
- Geisinger Developmental Brain Disorder Gene Database – PTCHD1
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 PTCHD1.
Research Article Summaries
Below, we have summarized research articles about changes in the PTCHD1 gene. We hope you find this information helpful.
The information available about PTCHD1 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 PTCHD1 articles can be found here.
You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability
Original research article by B. Torrico et al. (2015)
Read the abstract here and the Simons Searchlight summary here.
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder
Original research article by A. Chaudhry et al. (2015)
Read the abstract here and the Simons Searchlight summary here.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about PTCHD1 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.
Family Stories
We do not currently have any stories from PTCHD1 families.
Click here to share your family’s story!