Congenital bile acid synthesis defect type 2
ORPHA:79303DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)27
Очень частый (80–99%)3
HP:0002904Hyperbilirubinemia
HP:0012379Abnormal enzyme/coenzyme activity
HP:0200084Giant cell hepatitis
Частый (30–79%)21
HP:0000952Jaundice
HP:0001396Cholestasis
HP:0001397Hepatic steatosis
HP:0001399Hepatic failure
HP:0001508Failure to thrive
HP:0001978Extramedullary hematopoiesis
HP:0002240Hepatomegaly
HP:0002570Steatorrhea
HP:0002630Fat malabsorption
HP:0002908Conjugated hyperbilirubinemia
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0003256Abnormality of the coagulation cascade
HP:0003645Prolonged partial thromboplastin time
HP:0006579Prolonged neonatal jaundice
HP:0008151Prolonged prothrombin time
HP:0008897Postnatal growth retardation
HP:0025435Increased circulating lactate dehydrogenase concentration
HP:0030984Abnormal serum bile acid concentration
HP:0040319Dark urine
HP:0100513Low levels of vitamin E
Периодический (5–29%)3
HP:0000107Renal cyst
HP:0002748Rickets
HP:0011040Abnormality of the intrahepatic bile duct
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)