COG4-CDG
ORPHA:263501DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)2
HP:0012347Abnormal protein N-linked glycosylation
HP:0012358Abnormal protein O-linked glycosylation
Частый (30–79%)27
HP:0000252Microcephaly
HP:0000340Sloping forehead
HP:0000639Nystagmus
HP:0000737Irritability
HP:0001251Ataxia
HP:0001263Global developmental delay
HP:0001344Absent speech
HP:0001347Hyperreflexia
HP:0001394Cirrhosis
HP:0001433Hepatosplenomegaly
HP:0001510Growth delay
HP:0001531Failure to thrive in infancy
HP:0001873Thrombocytopenia
HP:0002254Intermittent diarrhea
HP:0002509Limb hypertonia
HP:0002788Recurrent upper respiratory tract infections
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003124Hypercholesterolemia
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0003256Abnormality of the coagulation cascade
HP:0006892Frontotemporal cerebral atrophy
HP:0008935Generalized neonatal hypotonia
HP:0008936Axial hypotonia
HP:0011172Complex febrile seizure
HP:0011968Feeding difficulties
HP:0012301Type II transferrin isoform profile
HP:0100874Thick hair
Периодический (5–29%)4
HP:0002079Hypoplasia of the corpus callosum
HP:0004798Recurrent infection of the gastrointestinal tract
HP:0006583Fatal liver failure in infancy
HP:0040187Neonatal sepsis
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)