MPI-CDG
ORPHA:79319DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)22
Облигатный (100%)1
HP:0012379Abnormal enzyme/coenzyme activity
Очень частый (80–99%)6
HP:0001395Hepatic fibrosis
HP:0002014Diarrhea
HP:0002240Hepatomegaly
HP:0003073Hypoalbuminemia
HP:0003256Abnormality of the coagulation cascade
HP:0040246Reduced antithrombin antigen
Частый (30–79%)12
HP:0000825Hyperinsulinemic hypoglycemia
HP:0000969Edema
HP:0001409Portal hypertension
HP:0001410Decreased liver function
HP:0001508Failure to thrive
HP:0001929Reduced factor XI activity
HP:0001977Abnormal thrombosis
HP:0002013Vomiting
HP:0002239Gastrointestinal hemorrhage
HP:0002243Protein-losing enteropathy
HP:0004855Reduced protein S activity
HP:0005543Reduced protein C activity
Периодический (5–29%)1
HP:0000821Hypothyroidism
Исключён (0%)2
HP:0000707Abnormality of the nervous system
HP:0001249Intellectual disability
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 25 | 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)