Obesity due to congenital leptin deficiency
ORPHA:66628Etiological subtypeAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)20
Облигатный (100%)2
HP:0001513Obesity
HP:0003292Decreased serum leptin
Очень частый (80–99%)12
HP:0032218Decreased proportion of CD4-positive T cells
HP:0000771Gynecomastia
HP:0000786Primary amenorrhea
HP:0000815Hypergonadotropic hypogonadism
HP:0000842Hyperinsulinemia
HP:0002591Polyphagia
HP:0005419Decreased T cell activation
HP:0008187Absence of secondary sex characteristics
HP:0008214Decreased serum estradiol
HP:0008724Hypoplasia of the ovary
HP:0008734Decreased testicular size
HP:0040171Decreased serum testosterone concentration
Частый (30–79%)6
HP:0000831Insulin-resistant diabetes mellitus
HP:0002155Hypertriglyceridemia
HP:0002788Recurrent upper respiratory tract infections
HP:0004926Orthostatic hypotension due to autonomic dysfunction
HP:0005616Accelerated skeletal maturation
HP:0008245Pituitary hypothyroidism
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 30 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)