Obesity due to CEP19 deficiency

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ORPHA:397615OMIM:615703E66.8
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Overview

Obesity due to CEP19 deficiency is an extremely rare genetic condition that causes severe obesity beginning in early childhood. CEP19 stands for centrosomal protein 19, and the gene that makes this protein plays a role in how the body manages energy balance and weight regulation. When both copies of the CEP19 gene are not working properly, the body's normal signals for hunger and fullness become disrupted, leading to excessive weight gain that is very difficult to control through diet and exercise alone. People with this condition typically develop obesity at a young age and may also experience other features related to metabolic dysfunction, such as insulin resistance or type 2 diabetes. The obesity tends to be severe and persistent. Because this is a monogenic (single-gene) form of obesity, it is different from common obesity that results from a combination of many genes and lifestyle factors. Currently, there is no specific cure or targeted therapy approved for obesity caused by CEP19 deficiency. Treatment focuses on managing weight through dietary counseling, physical activity programs, behavioral support, and addressing any related health problems like diabetes or high cholesterol. Research into the biology of CEP19 and related pathways may eventually lead to more targeted treatments. Genetic counseling is recommended for affected families to understand the inheritance pattern and risks for future children.

Key symptoms:

Severe obesity starting in early childhoodExcessive hunger or increased appetiteRapid weight gain that is hard to controlInsulin resistanceRisk of type 2 diabetesHigh cholesterol or abnormal blood fatsFatty liver diseaseHigh blood pressureJoint pain or difficulty with movement due to excess weightEmotional or psychological effects related to obesity

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Obesity due to CEP19 deficiency.

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No actively recruiting trials found for Obesity due to CEP19 deficiency at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Obesity due to CEP19 deficiency community →

No specialists are currently listed for Obesity due to CEP19 deficiency.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Obesity due to CEP19 deficiency.

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Community

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.How was the diagnosis of CEP19 deficiency confirmed, and should other family members be tested?,What is the best dietary and exercise plan for my child given this genetic condition?,Are there any medications that might help with weight management in this specific condition?,How often should we screen for complications like diabetes, liver disease, or high cholesterol?,Would bariatric surgery ever be an option, and at what age?,Are there any clinical trials or research studies we could participate in?,What mental health support is available to help with the emotional impact of this condition?

Common questions about Obesity due to CEP19 deficiency

What is Obesity due to CEP19 deficiency?

Obesity due to CEP19 deficiency is an extremely rare genetic condition that causes severe obesity beginning in early childhood. CEP19 stands for centrosomal protein 19, and the gene that makes this protein plays a role in how the body manages energy balance and weight regulation. When both copies of the CEP19 gene are not working properly, the body's normal signals for hunger and fullness become disrupted, leading to excessive weight gain that is very difficult to control through diet and exercise alone. People with this condition typically develop obesity at a young age and may also experien

How is Obesity due to CEP19 deficiency inherited?

Obesity due to CEP19 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Obesity due to CEP19 deficiency typically begin?

Typical onset of Obesity due to CEP19 deficiency is childhood. Age of onset can vary across affected individuals.