Glycogen storage disease due to glycogen branching enzyme deficiency
ORPHA:367DiseaseAutosomal recessiveAll ages
Фенотипы (HPO)30
Очень частый (80–99%)6
HP:0001410Decreased liver function
HP:0002240Hepatomegaly
HP:0011354Generalized abnormality of skin
HP:0012269Abnormal muscle glycogen content
HP:0031331Abnormal cardiomyocyte morphology
HP:0500032Abnormal neuron branching
Частый (30–79%)7
HP:0001270Motor delay
HP:0001290Generalized hypotonia
HP:0001508Failure to thrive
HP:0001644Dilated cardiomyopathy
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003073Hypoalbuminemia
HP:0003198Myopathy
Периодический (5–29%)17
HP:0001371Flexion contracture
HP:0001394Cirrhosis
HP:0001399Hepatic failure
HP:0001409Portal hypertension
HP:0001433Hepatosplenomegaly
HP:0001541Ascites
HP:0001561Polyhydramnios
HP:0001635Congestive heart failure
HP:0001790Nonimmune hydrops fetalis
HP:0001989Fetal akinesia sequence
HP:0002040Esophageal varix
HP:0002093Respiratory insufficiency
HP:0002098Respiratory distress
HP:0003202Skeletal muscle atrophy
HP:0003645Prolonged partial thromboplastin time
HP:0006829Severe muscular hypotonia
HP:0008151Prolonged prothrombin time
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.1 | Worldwide | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)