Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
ORPHA:713DiseaseX-linked recessiveAdolescent, Adult, Childhood
Ассоциированные гены1
Фенотипы (HPO)21
Частый (30–79%)18
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0001263Global developmental delay
HP:0001324Muscle weakness
HP:0001337Tremor
HP:0001878Hemolytic anemia
HP:0001923Reticulocytosis
HP:0002076Migraine
HP:0002904Hyperbilirubinemia
HP:0002913Myoglobinuria
HP:0003198Myopathy
HP:0003201Rhabdomyolysis
HP:0003394Muscle spasm
HP:0003738Exercise-induced myalgia
HP:0009020Exercise-induced muscle fatigue
HP:0012638Abnormality of nervous system physiology
HP:0020062Decreased hemoglobin concentration
Периодический (5–29%)1
HP:0000083Renal insufficiency
Очень редкий (1–4%)2
HP:0000556Retinal dystrophy
HP:0000618Blindness
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 30 | Worldwide | Family(ies) |
| 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)