Traits

Traits linked to MC4R

melanocortin 4 receptor

The Human Phenotype Ontology links 12 traits to MC4R, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Increased adipose tissue	Always
Advanced bone age	Often (30–79%)
Increased bone mineral density	Not recorded

Growth abnormality

Trait	How often it is seen
Obesity	Always
Childhood-onset truncal obesity	Often (30–79%)
Tall stature	Not recorded

Laboratory abnormality

Trait	How often it is seen
Hyperinsulinemia	Sometimes (5–29%)
Increased plasma triglycerides	Sometimes (5–29%)
Noninsulin-dependent diabetes	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Darkened and thickened skin	Sometimes (5–29%)

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 MC4R and how often each is seen. Find out more at hpo.jax.org.

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