National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Proopiomelanocortin deficiency


Other Names:
Obesity, early-onset, adrenal insufficiency, and red hair; POMC deficiency; Obesity due to pro-opiomelanocortin deficiency
Categories:
Proopiomelanocortin (POMC) deficiency is characterized by severe obesity that begins at an early age. Affected infants are usually a normal weight at birth, but they are constantly hungry, which leads to excessive feeding and weight gain during the first year and throughout life. In addition, people with this condition have low levels of a hormone known as adrenocorticotropic hormone (ACTH) which leads to adrenal insufficiency. They also tend to have red hair and pale skin. POMC deficiency is caused by mutations in the POMC gene. The condition is inherited in an autosomal recessive pattern.[1] Adrenal insufficiency requires prompt treatment with hydrocortisone to avoid life-threatening complications.[1][2]  
Last updated: 8/10/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Increased adipose tissue
Increased fat tissue
0009126
80%-99% of people have these symptoms
Polyphagia
Voracious appetite
0002591
30%-79% of people have these symptoms
Central adrenal insufficiency 0011734
Childhood-onset truncal obesity 0008915
Cholestasis
Slowed or blocked flow of bile from liver
0001396
Hypopigmentation of the skin
Patchy lightened skin
0001010
Red hair
Red hair color
Red head (hair color)
[ more ] 		0002297
5%-29% of people have these symptoms
Acanthosis nigricans
Darkened and thickened skin
0000956
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] 		0000823
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ] 		0002750
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Gonadotropin deficiency 0008213
Growth hormone deficiency 0000824
Hyperinsulinemia 0000842
Hypoglycemic seizures 0002173
Pituitary hypothyroidism
Low thyroid gland function due to abnormal pituitary gland
0008245
Percent of people who have these symptoms is not available through HPO
Adrenal hypoplasia
Small adrenal glands
0000835
Adrenal insufficiency 0000846
Adrenocorticotropic hormone deficiency 0011748
Autosomal recessive inheritance 0000007
Hyperbilirubinemia
High blood bilirubin levels
0002904
Infantile onset
Onset in first year of life
Onset in infancy
[ more ] 		0003593
Obesity
Having too much body fat
0001513
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Last updated: 7/1/2020
Without early treatment, the adrenal insufficiency associated with POMC deficiency can be fatal.[1] The overall prognosis for this condition, however is undefined. It remains unclear if individuals with POMC deficiency are prone to weight-related complications like cardiovascular disease, cancer, or type 2 diabetes.[1][2] 
Last updated: 8/10/2015

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes combined pituitary hormone deficiencies, which can be excludedby multiple pituitary hormone stimulation tests.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Social Networking Websites

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Proopiomelanocortin deficiency. This website is maintained by the National Library of Medicine.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Proopiomelanocortin deficiency. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Is there a life expectancy for people who have POMC? See answer


  1. Proopiomelanocortin deficiency. Genetics Home Reference (GHR). February 2014; http://ghr.nlm.nih.gov/condition/proopiomelanocortin-deficiency. Accessed 8/10/2015.
  2. Filetti S. Obesity due to pro-opiomelanocortin deficiency. Orphanet. May 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71526. Accessed 8/10/2015.