Traits

Traits linked to POMC

proopiomelanocortin

The Human Phenotype Ontology links 26 traits to POMC, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the endocrine system

Trait	How often it is seen
Adrenocorticotropic hormone deficiency	Always
Low blood cortisol level	Always
Central adrenal insufficiency	Often (30–79%)
Decreased growth hormone responses to growth hormone-releasing hormone challenge	Often (30–79%)
Decreased response to growth hormone stimulation test	Sometimes (5–29%)
Delayed puberty	Sometimes (5–29%)
Gonadotropin deficiency	Sometimes (5–29%)
Low thyroid gland function due to abnormal pituitary gland	Sometimes (5–29%)
Adrenal insufficiency	Not recorded
Small adrenal glands	Not recorded

Growth abnormality

Trait	How often it is seen
Obesity	Always
Childhood-onset truncal obesity	Often (30–79%)
Faltering weight	Sometimes (5–29%)
Growth delay	Sometimes (5–29%)
Increased waist to hip ratio	Not recorded

Laboratory abnormality

Trait	How often it is seen
Hyperinsulinemia	Sometimes (5–29%)
Hypoglycemic seizures	Sometimes (5–29%)
Decreased resting energy expenditure	Not recorded
High blood bilirubin levels	Not recorded

Abnormality of the integument

Trait	How often it is seen
Red hair	Always
Patchy lightened skin	Often (30–79%)
Darkened and thickened skin	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Increased adipose tissue	Always
Delayed bone maturation	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Slowed or blocked flow of bile from liver	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Increased appetite	Very often (80–99%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to POMC and how often each is seen. Find out more at hpo.jax.org.

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