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Генетично обумовлене несиндромне ожиріння

ORPHA:98267· ICD-10 E66.8· Genetic non-syndromic obesity

Визначення(English summary)

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.

Поширеність
Unknown
Успадкування
Not applicable
Вік початку
Childhood, Infancy