Exercise-induced malignant hyperthermia
ORPHA:466650DiseaseMultigenic/multifactorialAll ages
Ассоциированные гены1
Фенотипы (HPO)41
Очень частый (80–99%)2
HP:0000707Abnormality of the nervous system
HP:0002047Malignant hyperthermia
Частый (30–79%)7
HP:0002018Nausea
HP:0002315Headache
HP:0002321Vertigo
HP:0002789Tachypnea
HP:0011703Sinus tachycardia
HP:0012378Fatigue
HP:0030850Abnormal pulse pressure
Периодический (5–29%)24
HP:0001250Seizure
HP:0001251Ataxia
HP:0001254Lethargy
HP:0001289Confusion
HP:0001324Muscle weakness
HP:0001410Decreased liver function
HP:0001657Prolonged QT interval
HP:0001892Abnormal bleeding
HP:0002013Vomiting
HP:0002153Hyperkalemia
HP:0002615Hypotension
HP:0002901Hypocalcemia
HP:0002905Hyperphosphatemia
HP:0003128Lactic acidosis
HP:0003236Elevated circulating creatine kinase concentration
HP:0003256Abnormality of the coagulation cascade
HP:0003710Exercise-induced muscle cramps
HP:0005135Abnormal T-wave
HP:0012250ST segment depression
HP:0012417Hypocapnia
HP:0030830Crackles
HP:0031258Delirium
HP:0031284Flushing
HP:0100520Oliguria
Очень редкий (1–4%)8
HP:0000958Dry skin
HP:0000970Anhidrosis
HP:0001399Hepatic failure
HP:0001873Thrombocytopenia
HP:0001919Acute kidney injury
HP:0002480Hepatic encephalopathy
HP:0003201Rhabdomyolysis
HP:0005521Disseminated intravascular coagulation
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)