Research
Hormonal
MC4R mutations are the most common cause of monogenic obesity, found in 5-6% of severe early-onset obesity cases, and lead to hyperphagia, increased lean mass, and accelerated linear growth.
If you have severe early-onset obesity, ask about MC4R testing. It is the most common genetic cause, and identifying it opens the door to specific treatments.
StrongSupportsVERY_HIGH confidence
We and others have reported that mutations in MC4R are found in 5%–6% of patients with severe early-onset obesity... making this one of the most common human monogenic diseases.
Why this rating
Based on large-scale genetic studies and clinical characterization of patients.
Source
Genetic approaches to understanding human obesity
Shwetha Ramachandrappa et al. · Journal of Clinical Investigation · 2011
DOI 10.1172/jci46044
narrative_reviewCited 193×
Read the paper DOI resolved against Crossref · corpus check 2026-06-10
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