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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.

ORPHA:98267

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: -

  A summary on this disease is available in Deutsch (2020) Español (2020) Français (2020) Nederlands (2020)

Detailed information

Guidelines

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.