Caroli disease
ORPHA:53035Malformation syndromeAutosomal recessive, Not applicableAll ages
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)1
HP:0001396Cholestasis
Частый (30–79%)7
HP:0000952Jaundice
HP:0001406Intrahepatic cholestasis
HP:0002027Abdominal pain
HP:0002908Conjugated hyperbilirubinemia
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0030151Cholangitis
HP:0030948Elevated gamma-glutamyltransferase level
Периодический (5–29%)18
HP:0000113Polycystic kidney dysplasia
HP:0000989Pruritus
HP:0001081Cholelithiasis
HP:0001394Cirrhosis
HP:0001541Ascites
HP:0001744Splenomegaly
HP:0001824Weight loss
HP:0001945Fever
HP:0001974Leukocytosis
HP:0002013Vomiting
HP:0002018Nausea
HP:0002039Anorexia
HP:0002040Esophageal varix
HP:0002240Hepatomegaly
HP:0025143Chills
HP:0031964Elevated circulating alanine aminotransferase concentration
HP:0032106Conjunctival icterus
HP:0032545Abdominal rigidity
Очень редкий (1–4%)5
HP:0001395Hepatic fibrosis
HP:0001409Portal hypertension
HP:0002613Biliary cirrhosis
HP:0030153Cholangiocarcinoma
HP:0100523Liver abscess
Исключён (0%)2
HP:0001405Periportal fibrosis
HP:0045056Abnormal levels of alpha-fetoprotein
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.1 | Worldwide | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)