Overview
Obesity due to pro-opiomelanocortin (POMC) deficiency is a very rare genetic condition that causes severe obesity starting in early childhood. POMC is a protein made in the brain that plays a key role in controlling hunger and body weight. When the body cannot make enough working POMC, a chain of important signals in the brain breaks down. This leads to an almost constant feeling of extreme hunger, called hyperphagia, which is very hard to control through willpower or diet alone. The condition is also sometimes called POMC deficiency obesity or POMC-related obesity. Beyond severe weight gain, POMC deficiency also affects the adrenal glands, which sit on top of the kidneys and make important hormones like cortisol. Without enough POMC signaling, the adrenal glands may not work properly, a condition called adrenal insufficiency. This can be life-threatening if not treated. Some people with this condition also have red or reddish hair, even in families where that hair color is not common, because POMC also controls hair pigment. For a long time, there was no specific treatment. However, a medication called setmelanotide (brand name Imcivree) was approved by the FDA in 2020 specifically for POMC deficiency obesity. This drug works by stepping in for the missing POMC signals in the brain, helping to reduce hunger and support weight loss. With proper medical care, people with this condition can see meaningful improvements in their quality of life.
Also known as:
Key symptoms:
Extreme, uncontrollable hunger (hyperphagia) from a very young ageSevere obesity beginning in infancy or early childhoodAdrenal insufficiency — the adrenal glands do not make enough cortisolLow energy and fatigue related to hormone imbalancesReddish or auburn hair color, sometimes unexpected in the familyPale skin in some individualsDelayed puberty or hormonal imbalances in some casesLow blood sugar (hypoglycemia) in newborns due to adrenal problemsDifficulty losing weight despite diet and exercise effortsEmotional and psychological challenges related to weight and hunger
Clinical phenotype terms (18)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
1 availableIMCIVREE
indicated to reduce excess body weight and maintain weight reduction long term in adults and pediatric patients aged 2 years and older with syndromic or monogenic obesity due to Pro-opiomelanocortin (…
indicated to reduce excess body weight and maintain weight reduction long term in adults and pediatric patients aged 2 years and older with syndromic or monogenic obesity due to Pro-opiomelanocortin (POMC) deficiency as determined by an FDA-approved test demonstrating variants in POMC genes that are interpreted as pathogenic, likely pathogenic, or of uncertain significance (VUS)
Clinical Trials
View all trials with filters →No actively recruiting trials found for Obesity due to pro-opiomelanocortin deficiency at this time.
New trials open frequently. Follow this disease to get notified.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Financial Resources
1 resourcesTravel Grants
No travel grants are currently matched to Obesity due to pro-opiomelanocortin deficiency.
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.Is my child a candidate for setmelanotide (Imcivree), and how do we access it?,How do we manage adrenal insufficiency day-to-day, and what do we do in an emergency?,Should other family members be tested for the POMC gene mutation?,What monitoring and follow-up appointments will my child need long-term?,Are there any clinical trials or new treatments we should know about?,What should we tell the school or other caregivers about emergency protocols?,How can we get support for the emotional and psychological impact of this condition?
Common questions about Obesity due to pro-opiomelanocortin deficiency
What is Obesity due to pro-opiomelanocortin deficiency?
Obesity due to pro-opiomelanocortin (POMC) deficiency is a very rare genetic condition that causes severe obesity starting in early childhood. POMC is a protein made in the brain that plays a key role in controlling hunger and body weight. When the body cannot make enough working POMC, a chain of important signals in the brain breaks down. This leads to an almost constant feeling of extreme hunger, called hyperphagia, which is very hard to control through willpower or diet alone. The condition is also sometimes called POMC deficiency obesity or POMC-related obesity. Beyond severe weight gain,
How is Obesity due to pro-opiomelanocortin deficiency inherited?
Obesity due to pro-opiomelanocortin 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 pro-opiomelanocortin deficiency typically begin?
Typical onset of Obesity due to pro-opiomelanocortin deficiency is infantile. Age of onset can vary across affected individuals.
Which specialists treat Obesity due to pro-opiomelanocortin deficiency?
1 specialists and care centers treating Obesity due to pro-opiomelanocortin deficiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Obesity due to pro-opiomelanocortin deficiency?
1 patient support program are currently tracked on UniteRare for Obesity due to pro-opiomelanocortin deficiency. See the treatments and support programs sections for copay assistance, eligibility, and contact details.