Familial partial lipodystrophy, Dunnigan type
ORPHA:2348DiseaseAutosomal dominantAdolescent, Adult, Childhood, Elderly
Ассоциированные гены1
Фенотипы (HPO)34
Очень частый (80–99%)10
HP:0000311Round face
HP:0000819Diabetes mellitus
HP:0000855Insulin resistance
HP:0000991Xanthomatosis
HP:0002155Hypertriglyceridemia
HP:0002240Hepatomegaly
HP:0003712Skeletal muscle hypertrophy
HP:0008065Aplasia/Hypoplasia of the skin
HP:0009125Lipodystrophy
HP:0100578Lipoatrophy
Частый (30–79%)6
HP:0000869Secondary amenorrhea
HP:0000963Thin skin
HP:0001597Abnormality of the nail
HP:0002621Atherosclerosis
HP:0003635Loss of subcutaneous adipose tissue in limbs
HP:0006288Advanced eruption of teeth
Периодический (5–29%)18
HP:0000147Polycystic ovaries
HP:0000956Acanthosis nigricans
HP:0001397Hepatic steatosis
HP:0001635Congestive heart failure
HP:0001639Hypertrophic cardiomyopathy
HP:0001677Coronaryartery atherosclerosis
HP:0001733Pancreatitis
HP:0001744Splenomegaly
HP:0002230Generalized hirsutism
HP:0003198Myopathy
HP:0003326Myalgia
HP:0005339Abnormality of complement system
HP:0006824Cranial nerve paralysis
HP:0012084Abnormality of skeletal muscle fiber size
HP:0100601Eclampsia
HP:0100607Dysmenorrhea
HP:0100658Cellulitis
HP:0100820Glomerulopathy
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)