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Genetic non-syndromic obesity

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • Monogenic obesity due to a leptin-melanocortin pathway anomaly
  • Prevalence: Unknown
  • Inheritance: Not applicable 
  • Age of onset: Infancy, Childhood
  • ICD-10: E66.8
  • ICD-11: 5B81.Y
  • OMIM: -
  • UMLS: C5680229
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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