NR4A2
The information for this summary of NR4A2-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full NR4A2 Gene Guide
The online Gene Guide includes more information about NR4A2-related syndrome such as the chance of having another child with this condition, behavior and development concerns linked to NR4A2-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
NR4A2-related syndrome is also called intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism. For this webpage, we will be using the name NR4A2-related syndrome to encompass the wide range of variants observed in the people identified.
What is NR4A2-related syndrome?
NR4A2-related syndrome happens when there are changes to the NR4A2 gene. These changes can keep the gene from working as it should.
Key Role
The NR4A2 gene plays a key role in the development of the brain. This gene is particularly important in brain cells that help control movement, emotion, and memory.
The NR4A2 gene makes a protein that is important for the dopamine pathway in the brain. The gene is called NR4A2, and the protein is called NURR1.
Symptoms
Because the NR4A2 gene is important in brain development and function, many people who have NR4A2-related syndrome have:
- Autism
- Intellectual disability
- Developmental delay
- Learning difficulties
- Speech and language issues
- Seizures
- Movement issues, such as dystonia, parkinsonism, or ataxia
- Brain changes seen on magnetic resonance imaging (MRI)
- Attention-deficit/hyperactivity disorder, or ADHD
- Anxiety
- Sleep issues
How many people have NR4A2-related syndrome?
As of 2024, at least 27 people with NR4A2-related syndrome have been identified in medical research. The first case of NR4A2-related syndrome was described in 2017.
Support Resources
- Simons Searchlight Community – NR4A2 Facebook group
- NR4A2 PAG Facebook Group – https://www.facebook.com/groups/372659692089435/
- NORD NR4A2 Webpage- https://rarediseases.org/rare-diseases/nr4a2-related-neurodevelopmental-disorder/
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 NR4A2.
Research Article Summaries
We currently do not have any article summaries for NR4A2, but we add resources to our website as they become available.
The information available about NR4A2 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 NR4A2 articles can be found here.
You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about NR4A2 genetic changes by taking part in our research. You can learn more about the project and sign up here.