Glycogen storage disease due to aldolase A deficiency
ORPHA:57DiseaseAutosomal recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)21
Очень частый (80–99%)2
HP:0001945Fever
HP:0012545Reduced aldolase level
Частый (30–79%)9
HP:0001324Muscle weakness
HP:0001878Hemolytic anemia
HP:0003326Myalgia
HP:0003458EMG: myopathic abnormalities
HP:0003558Viral infection-induced rhabdomyolysis
HP:0003756Skeletal myopathy
HP:0008331Elevated creatine kinase after exercise
HP:0009045Exercise-induced rhabdomyolysis
HP:0100295Muscle fiber atrophy
Периодический (5–29%)10
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001270Motor delay
HP:0001328Specific learning disability
HP:0001510Growth delay
HP:0001919Acute kidney injury
HP:0002153Hyperkalemia
HP:0002913Myoglobinuria
HP:0003199Decreased muscle mass
HP:0011675Arrhythmia
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)