Primary triglyceride deposit cardiomyovasculopathy
ORPHA:565612Etiological subtypeAutosomal recessiveAdult
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)5
HP:0001922Vacuolated lymphocytes
HP:0003756Skeletal myopathy
HP:0009058Increased muscle lipid content
HP:0012379Abnormal enzyme/coenzyme activity
HP:0031331Abnormal cardiomyocyte morphology
Частый (30–79%)15
HP:0000819Diabetes mellitus
HP:0001430Abnormality of the calf musculature
HP:0001435Abnormality of the shoulder girdle musculature
HP:0001638Cardiomyopathy
HP:0001677Coronaryartery atherosclerosis
HP:0001681Angina pectoris
HP:0001962Palpitations
HP:0002094Dyspnea
HP:0002240Hepatomegaly
HP:0003077Hyperlipidemia
HP:0003236Elevated circulating creatine kinase concentration
HP:0005145Coronary artery stenosis
HP:0009805Low-output congestive heart failure
HP:0011675Arrhythmia
HP:0032141Precordial pain
Периодический (5–29%)6
HP:0000407Sensorineural hearing impairment
HP:0001249Intellectual disability
HP:0001733Pancreatitis
HP:0003805Rimmed vacuoles
HP:0011123Inflammatory abnormality of the skin
HP:0031684Renal artery atherosclerosis
Очень редкий (1–4%)2
HP:0000478Abnormality of the eye
HP:0001744Splenomegaly
Исключён (0%)1
HP:0008064Ichthyosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 200 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)