obesity due to melanocortin 4 receptor deficiency
Findings
No curated finding names obesity due to melanocortin 4 receptor deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterized by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.
Definition from the Mondo Disease Ontology (MONDO:0019115), read 2026-09-29. CC BY 4.0.
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Increased adipose tissueHPOHP:0009126
- Obligate (100% of cases)
- ObesityHPOHP:0001513
- Obligate (100% of cases)
- PolyphagiaHPOHP:0002591
- Very frequent (80% to 99% of cases)
- Accelerated skeletal maturationHPOHP:0005616
- Frequent (30% to 79% of cases)
- Childhood-onset truncal obesityHPOHP:0008915
- Frequent (30% to 79% of cases)
- Acanthosis nigricansHPOHP:0000956
- Occasional (5% to 29% of cases)
- HyperinsulinemiaHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MC4RHGNC:6932
- Strong · PanelApp Australia · Semidominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: obesity due to melanocortin 4 receptor deficiency
- Also called
- MC4R deficiency