LIPE-related familial partial lipodystrophy
ORPHA:435660DiseaseAutosomal recessiveAdult
Ассоциированные гены1
Фенотипы (HPO)20
Облигатный (100%)4
HP:0000468Increased adipose tissue around the neck
HP:0000855Insulin resistance
HP:0003635Loss of subcutaneous adipose tissue in limbs
HP:0009125Lipodystrophy
Очень частый (80–99%)14
HP:0000147Polycystic ovaries
HP:0000831Insulin-resistant diabetes mellitus
HP:0000876Oligomenorrhea
HP:0000956Acanthosis nigricans
HP:0001397Hepatic steatosis
HP:0002155Hypertriglyceridemia
HP:0002240Hepatomegaly
HP:0003236Elevated circulating creatine kinase concentration
HP:0003292Decreased serum leptin
HP:0003712Skeletal muscle hypertrophy
HP:0008993Increased intraabdominal fat
HP:0009017Loss of gluteal subcutaneous adipose tissue
HP:0012881Abnormality of the labia majora
HP:0030685Decreased adiponectin level
Частый (30–79%)2
HP:0008994Proximal muscle weakness in lower limbs
HP:0008997Proximal muscle weakness in upper limbs
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)