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Disease Profile

Proopiomelanocortin deficiency

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

E66.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Obesity, early-onset, adrenal insufficiency, and red hair; POMC deficiency; Obesity due to pro-opiomelanocortin deficiency

Categories

Congenital and Genetic Diseases; Endocrine Diseases

Summary

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]

Symptoms

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.

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

Organizations

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

Learn more

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.

References

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