COG8-CDG
ORPHA:95428DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)24
Частый (30–79%)13
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001251Ataxia
HP:0001508Failure to thrive
HP:0002243Protein-losing enteropathy
HP:0002376Developmental regression
HP:0002421Poor head control
HP:0002465Poor speech
HP:0003202Skeletal muscle atrophy
HP:0007267Chronic axonal neuropathy
HP:0008947Floppy infant
HP:0011344Severe global developmental delay
HP:0012537Food intolerance
Периодический (5–29%)11
HP:0000253Progressive microcephaly
HP:0001137Alternating esotropia
HP:0001272Cerebellar atrophy
HP:0001336Myoclonus
HP:0001943Hypoglycemia
HP:0002119Ventriculomegaly
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0006846Acute encephalopathy
HP:0007366Atrophy/Degeneration affecting the brainstem
HP:0007420Spontaneous hematomas
HP:0008151Prolonged prothrombin time
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)