PPARG-related familial partial lipodystrophy
ORPHA:79083DiseaseAutosomal dominantAdult
Ассоциированные гены1
Фенотипы (HPO)36
Облигатный (100%)3
HP:0000822Hypertension
HP:0000855Insulin resistance
HP:0100578Lipoatrophy
Очень частый (80–99%)7
HP:0000819Diabetes mellitus
HP:0000831Insulin-resistant diabetes mellitus
HP:0000991Xanthomatosis
HP:0002155Hypertriglyceridemia
HP:0002240Hepatomegaly
HP:0003635Loss of subcutaneous adipose tissue in limbs
HP:0008065Aplasia/Hypoplasia of the skin
Частый (30–79%)4
HP:0000869Secondary amenorrhea
HP:0000963Thin skin
HP:0002621Atherosclerosis
HP:0003712Skeletal muscle hypertrophy
Периодический (5–29%)19
HP:0000147Polycystic ovaries
HP:0000292Loss of facial adipose tissue
HP:0000876Oligomenorrhea
HP:0000956Acanthosis nigricans
HP:0001397Hepatic steatosis
HP:0001635Congestive heart failure
HP:0001639Hypertrophic cardiomyopathy
HP:0001677Coronaryartery atherosclerosis
HP:0001733Pancreatitis
HP:0001744Splenomegaly
HP:0002149Hyperuricemia
HP:0002230Generalized hirsutism
HP:0003198Myopathy
HP:0003326Myalgia
HP:0003707Calf muscle pseudohypertrophy
HP:0009800Maternal diabetes
HP:0012084Abnormality of skeletal muscle fiber size
HP:0100601Eclampsia
HP:0100607Dysmenorrhea
Очень редкий (1–4%)3
HP:0000786Primary amenorrhea
HP:0001394Cirrhosis
HP:0007457Prominent veins on trunk
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)