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Budd-Chiari syndrome

ORPHA:131DiseaseMultigenic/multifactorialAll ages

Ассоциированные гены (3)

F5
coagulation factor V
Candidate gene tested in
OMIM: 612309
JAK2
Janus kinase 2
Candidate gene tested in
OMIM: 147796
CALR
calreticulin
Candidate gene tested in
OMIM: 109091

Фенотипы (23)

Очень частый (80–99%)3
HP:0001409Portal hypertension
HP:0001541Ascites
HP:0001744Splenomegaly
Частый (30–79%)9
HP:0001394Cirrhosis
HP:0001945Fever
HP:0002027Abdominal pain
HP:0002040Esophageal varix
HP:0002240Hepatomegaly
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0030243Hepatic vein thrombosis
HP:0033045Bipedal edema
Периодический (5–29%)11
HP:0000083Renal insufficiency
HP:0000952Jaundice
HP:0001082Cholecystitis
HP:0001824Weight loss
HP:0002024Malabsorption
HP:0002239Gastrointestinal hemorrhage
HP:0002480Hepatic encephalopathy
HP:0002586Peritonitis
HP:0005214Intestinal obstruction
HP:0005244Gastrointestinal infarctions
HP:0006554Acute hepatic failure

Эпидемиология (12)

Point prevalence
1-9 / 100 000
Europe
Annual incidence
<1 / 1 000 000
Sweden
Point prevalence
1-9 / 1 000 000
Sweden
Annual incidence
<1 / 1 000 000
Denmark
Annual incidence
<1 / 1 000 000
Japan
Point prevalence
1-9 / 1 000 000
Japan
Annual incidence
<1 / 1 000 000
France
Annual incidence
1-9 / 1 000 000
Italy
Annual incidence
<1 / 1 000 000
Korea, Republic of
Point prevalence
1-9 / 1 000 000
Korea, Republic of
Annual incidence
1-9 / 1 000 000
Worldwide
Point prevalence
1-9 / 100 000
Worldwide

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы