Rare Endocrinology News
Disease Profile
Proopiomelanocortin deficiency
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
Age of onset
Infancy
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
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 |
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 | ||
|
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 |
0000824 | |
| Hyperinsulinemia | 0000842 | |
| Hypoglycemic |
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 | |
| 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 |
Related diseases
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.
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Conditions with similar signs and symptoms from Orphanet
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|---|
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Differential diagnosis includes combined pituitary hormone deficiencies, which can be excludedby multiple pituitary hormone stimulation tests.
Visit the Orphanet disease page for more information.
|
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
- Visit the POMC Island group on Facebook.
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
- Proopiomelanocortin deficiency. Genetics Home Reference (GHR). February 2014; https://ghr.nlm.nih.gov/condition/proopiomelanocortin-deficiency. Accessed 8/10/2015.
- 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.