Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
ORPHA:284426Clinical subtypeAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)23
Частый (30–79%)12
HP:0001787Abnormal delivery
HP:0003388Easy fatigability
HP:0003738Exercise-induced myalgia
HP:0008305Exercise-induced myoglobinuria
HP:0008331Elevated creatine kinase after exercise
HP:0009045Exercise-induced rhabdomyolysis
HP:0011356Regional abnormality of skin
HP:0025474Erythematous plaque
HP:0025526Psoriasiform lesion
HP:0025528Annular cutaneous lesion
HP:0040189Scaling skin
HP:0200039Pustule
Периодический (5–29%)10
HP:0001036Parakeratosis
HP:0001919Acute kidney injury
HP:0002046Heat intolerance
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003072Hypercalcemia
HP:0007432Intermittent generalized erythematous papular rash
HP:0012622Chronic kidney disease
HP:0031190Superficial dermal perivascular inflammatory infiltrate
HP:0031236Predominantly dermal neutrophilic infiltrate
HP:0045040Abnormal lactate dehydrogenase activity
Очень редкий (1–4%)1
HP:0000989Pruritus
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)