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Diseases

Genetic and Rare Diseases Information Center (GARD)

Proopiomelanocortin deficiency


Other Names for this Disease
  • Obesity due to pro-opiomelanocortin deficiency
  • Obesity, early-onset, adrenal insufficiency, and red hair
  • POMC deficiency
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Overview

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

References

  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.
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Basic Information

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

In Depth Information

  • 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.
Other Names for this Disease
  • Obesity due to pro-opiomelanocortin deficiency
  • Obesity, early-onset, adrenal insufficiency, and red hair
  • POMC deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.