Malignant hyperthermia of anesthesia
ORPHA:423DiseaseAutosomal dominantAll ages
Ассоциированные гены2
Фенотипы (HPO)23
Частый (30–79%)11
HP:0001942Metabolic acidosis
HP:0001945Fever
HP:0002047Malignant hyperthermia
HP:0002789Tachypnea
HP:0002905Hyperphosphatemia
HP:0003552Muscle stiffness
HP:0004755Supraventricular tachycardia
HP:0004756Ventricular tachycardia
HP:0011964Intermittent painful muscle spasms
HP:0012416Hypercapnia
HP:0031320Cardiomyocyte mitochondrial proliferation
Периодический (5–29%)12
HP:0001722High-output congestive heart failure
HP:0001919Acute kidney injury
HP:0002153Hyperkalemia
HP:0002913Myoglobinuria
HP:0003256Abnormality of the coagulation cascade
HP:0006554Acute hepatic failure
HP:0006682Ventricular extrasystoles
HP:0008331Elevated creatine kinase after exercise
HP:0008942Acute rhabdomyolysis
HP:0008978Necrotizing myopathy
HP:0009045Exercise-induced rhabdomyolysis
HP:3000005Abnormality of masseter muscle
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)