Caroli syndrome
ORPHA:480520Malformation syndromeAutosomal recessiveAll ages
Фенотипы (HPO)36
Очень частый (80–99%)2
HP:0001406Intrahepatic cholestasis
HP:0011040Abnormality of the intrahepatic bile duct
Частый (30–79%)11
HP:0000077Abnormality of the kidney
HP:0000952Jaundice
HP:0001945Fever
HP:0002027Abdominal pain
HP:0002240Hepatomegaly
HP:0002904Hyperbilirubinemia
HP:0002908Conjugated hyperbilirubinemia
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0025143Chills
HP:0030151Cholangitis
HP:0032545Abdominal rigidity
Периодический (5–29%)22
HP:0003565Elevated erythrocyte sedimentation rate
HP:0030153Cholangiocarcinoma
HP:0032106Conjunctival icterus
HP:0100523Liver abscess
HP:0100806Sepsis
HP:0100889Abnormality of the ductus choledochus
HP:0000113Polycystic kidney dysplasia
HP:0000989Pruritus
HP:0001394Cirrhosis
HP:0001399Hepatic failure
HP:0001409Portal hypertension
HP:0001733Pancreatitis
HP:0001873Thrombocytopenia
HP:0001882Leukopenia
HP:0001892Abnormal bleeding
HP:0001971Hypersplenism
HP:0001974Leukocytosis
HP:0002040Esophageal varix
HP:0002248Hematemesis
HP:0002249Melena
HP:0002612Congenital hepatic fibrosis
HP:0002910Elevated circulating hepatic transaminase concentration
Исключён (0%)1
HP:0001405Periportal fibrosis
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)