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