Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
ORPHA:79240DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)43
Очень частый (80–99%)4
HP:0002155Hypertriglyceridemia
HP:0002240Hepatomegaly
HP:0008897Postnatal growth retardation
HP:0012379Abnormal enzyme/coenzyme activity
Частый (30–79%)4
HP:0001395Hepatic fibrosis
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003124Hypercholesterolemia
HP:0003162Fasting hypoglycemia
Периодический (5–29%)24
HP:0000147Polycystic ovaries
HP:0000750Delayed speech and language development
HP:0000858Irregular menstruation
HP:0000876Oligomenorrhea
HP:0001252Hypotonia
HP:0001394Cirrhosis
HP:0001744Splenomegaly
HP:0001947Renal tubular acidosis
HP:0001988Recurrent hypoglycemia
HP:0002194Delayed gross motor development
HP:0002719Recurrent infections
HP:0003202Skeletal muscle atrophy
HP:0003236Elevated circulating creatine kinase concentration
HP:0003323Progressive muscle weakness
HP:0003325Limb-girdle muscle weakness
HP:0003326Myalgia
HP:0003394Muscle spasm
HP:0003546Exercise intolerance
HP:0003749Pelvic girdle muscle weakness
HP:0004322Short stature
HP:0011342Mild global developmental delay
HP:0012378Fatigue
HP:0012734Ketotic hypoglycemia
HP:0100607Dysmenorrhea
Очень редкий (1–4%)11
HP:0000939Osteoporosis
HP:0001402Hepatocellular carcinoma
HP:0001903Anemia
HP:0002013Vomiting
HP:0002014Diarrhea
HP:0002018Nausea
HP:0002913Myoglobinuria
HP:0003128Lactic acidosis
HP:0003201Rhabdomyolysis
HP:0004324Increased body weight
HP:0012028Hepatocellular adenoma
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)