Glycogen storage disease due to liver glycogen phosphorylase deficiency
ORPHA:369DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)28
Очень частый (80–99%)2
HP:0002240Hepatomegaly
HP:0006568Increased hepatic glycogen content
Частый (30–79%)8
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0001508Failure to thrive
HP:0000823Delayed puberty
HP:0001510Growth delay
HP:0001943Hypoglycemia
HP:0001946Ketosis
HP:0002910Elevated circulating hepatic transaminase concentration
Периодический (5–29%)12
HP:0000737Irritability
HP:0001252Hypotonia
HP:0001270Motor delay
HP:0001395Hepatic fibrosis
HP:0002360Sleep abnormality
HP:0003077Hyperlipidemia
HP:0003270Abdominal distention
HP:0003710Exercise-induced muscle cramps
HP:0004322Short stature
HP:0004913Intermittent lactic acidemia
HP:0006580Portal fibrosis
HP:0030973Postexertional malaise
Очень редкий (1–4%)6
HP:0000077Abnormality of the kidney
HP:0000093Proteinuria
HP:0001394Cirrhosis
HP:0001402Hepatocellular carcinoma
HP:0001639Hypertrophic cardiomyopathy
HP:0011997Postprandial hyperlactemia
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 100 000 | 2.3 | Israel | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.8 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)