Genetic non-syndromic obesity

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Synonyms: Monogenic obesity due to a leptin-melanocortin pathway anomaly

A rare genetic disease characterized by early-onset severe obesity due to mutations in single genes acting on the development and function of the hypothalamus or the leptin-melanocortin pathway leading to disruption of energy homeostasis and endocrine dysfunction. Patients present with a body mass index over three standard deviations above normal at less than five years of age accompanied by a variety of signs and symptoms according to the mutated gene including hyperphagia insulin resistance reduced basal metabolic rate or hypogonadism among others.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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