COG7-CDG
ORPHA:79333DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)9
HP:0001252Hypotonia
HP:0001508Failure to thrive
HP:0001954Recurrent fever
HP:0002719Recurrent infections
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0008897Postnatal growth retardation
HP:0011968Feeding difficulties
HP:0012301Type II transferrin isoform profile
HP:0012444Brain atrophy
Частый (30–79%)15
HP:0000077Abnormality of the kidney
HP:0000253Progressive microcephaly
HP:0000952Jaundice
HP:0001167Abnormality of finger
HP:0001250Seizure
HP:0001265Hyporeflexia
HP:0001284Areflexia
HP:0001518Small for gestational age
HP:0001627Abnormal heart morphology
HP:0001999Abnormal facial shape
HP:0002014Diarrhea
HP:0002240Hepatomegaly
HP:0003236Elevated circulating creatine kinase concentration
HP:0007392Excessive wrinkled skin
HP:0011451Congenital microcephaly
Периодический (5–29%)9
HP:0000160Narrow mouth
HP:0000278Retrognathia
HP:0000347Micrognathia
HP:0000470Short neck
HP:0001181Adducted thumb
HP:0001272Cerebellar atrophy
HP:0001433Hepatosplenomegaly
HP:0012157Subcortical cerebral atrophy
HP:0100807Long fingers
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)