Glycogen storage disease due to acid maltase deficiency, infantile onset
ORPHA:308552Clinical subtypeAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)35
Очень частый (80–99%)17
HP:0001324Muscle weakness
HP:0001508Failure to thrive
HP:0001639Hypertrophic cardiomyopathy
HP:0001640Cardiomegaly
HP:0001712Left ventricular hypertrophy
HP:0002240Hepatomegaly
HP:0003236Elevated circulating creatine kinase concentration
HP:0008872Feeding difficulties in infancy
HP:0008947Floppy infant
HP:0010471Oligosacchariduria
HP:0012379Abnormal enzyme/coenzyme activity
HP:0025335Delayed ability to stand
HP:0025336Delayed ability to sit
HP:0025435Increased circulating lactate dehydrogenase concentration
HP:0031964Elevated circulating alanine aminotransferase concentration
HP:0032092Left ventricular outflow tract obstruction
HP:0040329Multifocal hyperintensity of cerebral white matter on MRI
Частый (30–79%)16
HP:0000158Macroglossia
HP:0000183Tongue muscle weakness
HP:0000297Facial hypotonia
HP:0001270Motor delay
HP:0001284Areflexia
HP:0002093Respiratory insufficiency
HP:0002098Respiratory distress
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0002878Respiratory failure
HP:0003324Generalized muscle weakness
HP:0003701Proximal muscle weakness
HP:0004887Respiratory failure requiring assisted ventilation
HP:0005165Shortened PR interval
HP:0009805Low-output congestive heart failure
HP:0011947Respiratory tract infection
HP:0030148Heart murmur
Периодический (5–29%)2
HP:0000365Hearing impairment
HP:0001249Intellectual disability
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3 | Taiwan, Province of China | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.72 | Netherlands | Value and class |
| Point prevalence | Unknown | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)