Other Names for this Disease
- Obesity, early-onset, adrenal insufficiency, and red hair
- POMC deficiency
- Obesity due to pro-opiomelanocortin deficiency
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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. Adrenal insufficiency requires prompt treatment with hydrocortisone to avoid life-threatening complications.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
Last updated: 8/10/2015
- Proopiomelanocortin deficiency. Genetics Home Reference (GHR). February 2014; http://ghr.nlm.nih.gov/condition/proopiomelanocortin-deficiency. Accessed 8/10/2015.
- 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.
- Genetics Home Reference (GHR) contains information on Proopiomelanocortin deficiency. This website is maintained by the National Library of Medicine.
- 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.