HNRNPK
The information for this summary of HNRNPK-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full HNRNPK Gene Guide
The online Gene Guide includes more information about HNRNPK such as the chance of having another child with this condition, behavior and development concerns linked to HNRNPK-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
HNRNPK-related syndrome is also called Au-Kline syndrome. For this webpage, we will be using the name HNRNPK-related syndrome to encompass the wide range of variants observed in the people identified.
What is HNRNPK-related syndrome?
HNRNPK-related syndrome happens when there are changes in the HNRNPK gene. These changes can keep the gene from working as it should.
Key Role
The HNRNPK gene may play an important role in human development.
Symptoms
Because the HNRNPK gene might be important in the development and function of brain cells, many people who have HNRNPK-related syndrome have:
- Developmental delay
- Intellectual disability
- Delays or difficulty in speaking
- Heart defects
- Kidneys that cannot fully empty causing them to swell with urine, also called hydronephrosis
- Feeding difficulties
- Hip joints that have not formed properly, also called hip dysplasia
- Growth issues such as shorter than average height
- Low muscle tone
- Sideways curve of the spine, also called scoliosis
- Hearing loss
How many people have HNRNPK-related syndrome?
As of 2025, about 76 people in the world with an HNRNPK genetic variant have been included in medical research.
Support Resources
- HNRNP-Related Parent Connect – Facebook group
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 HNRNPK.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about HNRNPK genetic changes by taking part in our research. You can learn more about the project and sign up here.