PHIP

Below is a summary for the PHIP gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.

What is PHIP-related syndrome?

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

Key Role

The PHIP gene plays a key role in cell growth.

Symptoms

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

Intellectual disability or developmental delay
Behavior issues, including autism
Obesity
Vision issues

Do people who have PHIP-related syndrome look different?

People who have PHIP-related syndrome may look different. Appearance can vary and can include some but not all of these features:

High forehead
Curved pinky finger
Full eyebrows
Upturned nose
Large ears

How many people have PHIP-related syndrome?

As of 2020, about 50 people in the world with changes in the PHIP gene had been described in the medical literature.

LEARNING

So far, everyone who has PHIP-related syndrome has some level of intellectual disability or developmental delay.

BEHAVIOR

Most people have behavior issues. This can include hyperactivity, aggression, features of autism, anxiety, or depression.

Support Resources

Simons Searchlight Community – PHIP Facebook group
Geisinger Developmental Brain Disorder Gene Database – PHIP

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 are currently no GeneReviews for PHIP.

Research Article Summaries

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

The information available about PHIP 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 PHIP 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 PHIP 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 PHIP families.

Click here to share your family’s story!