Autosomal semi-dominant severe lipodystrophic laminopathy
ORPHA:280365DiseaseSemi-dominantAdult
Ассоциированные гены1
Фенотипы (HPO)49
Очень частый (80–99%)15
HP:0000347Micrognathia
HP:0000418Narrow nasal ridge
HP:0000819Diabetes mellitus
HP:0000855Insulin resistance
HP:0000991Xanthomatosis
HP:0002155Hypertriglyceridemia
HP:0002216Premature graying of hair
HP:0002240Hepatomegaly
HP:0003712Skeletal muscle hypertrophy
HP:0003717Minimal subcutaneous fat
HP:0003758Reduced subcutaneous adipose tissue
HP:0005328Progeroid facial appearance
HP:0008065Aplasia/Hypoplasia of the skin
HP:0009125Lipodystrophy
HP:0100578Lipoatrophy
Частый (30–79%)22
HP:0000147Polycystic ovaries
HP:0000287Increased facial adipose tissue
HP:0000311Round face
HP:0000468Increased adipose tissue around the neck
HP:0000869Secondary amenorrhea
HP:0000956Acanthosis nigricans
HP:0000963Thin skin
HP:0001397Hepatic steatosis
HP:0001597Abnormality of the nail
HP:0001870Acroosteolysis of distal phalanges (feet)
HP:0002621Atherosclerosis
HP:0003233Decreased HDL cholesterol concentration
HP:0003292Decreased serum leptin
HP:0003635Loss of subcutaneous adipose tissue in limbs
HP:0004416Precocious atherosclerosis
HP:0004943Accelerated atherosclerosis
HP:0006288Advanced eruption of teeth
HP:0008968Muscle hypertrophy of the lower extremities
HP:0008993Increased intraabdominal fat
HP:0009771Osteolytic defects of the phalanges of the hand
HP:0030685Decreased adiponectin level
HP:0040266Proximal upper limb muscle hypertrophy
Периодический (5–29%)11
HP:0001635Congestive heart failure
HP:0001639Hypertrophic cardiomyopathy
HP:0001677Coronaryartery atherosclerosis
HP:0001733Pancreatitis
HP:0001744Splenomegaly
HP:0002230Generalized hirsutism
HP:0003198Myopathy
HP:0003326Myalgia
HP:0005115Supraventricular arrhythmia
HP:0005150Abnormal atrioventricular conduction
HP:0100607Dysmenorrhea
Очень редкий (1–4%)1
HP:0004308Ventricular arrhythmia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | 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)