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obesity due to melanocortin 4 receptor deficiency

MONDO:0019115

Also known as: MC4R deficiency

MONDO:
MONDO:0019115
Orphanet:
71529
Rare disease150 associated genes

Description

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.

Associated genes

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External references

Sources: MONDO (CC BY 4.0), Open Targets (CC0), Orphanet (CC BY 4.0).

Not for sole clinical decision-making. Always verify against primary sources.