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Polycythemia vera

ORPHA:729DiseaseNot applicableAll ages

Ассоциированные гены (1)

JAK2
Janus kinase 2
Disease-causing somatic mutation(s) in
OMIM: 147796

Фенотипы (35)

Очень частый (80–99%)16
HP:0000225Gingival bleeding
HP:0000360Tinnitus
HP:0000421Epistaxis
HP:0000822Hypertension
HP:0000978Bruising susceptibility
HP:0001681Angina pectoris
HP:0001744Splenomegaly
HP:0001824Weight loss
HP:0001901Polycythemia
HP:0002027Abdominal pain
HP:0002240Hepatomegaly
HP:0002315Headache
HP:0002321Vertigo
HP:0002488Acute leukemia
HP:0002863Myelodysplasia
HP:0011974Myelofibrosis
Частый (30–79%)5
HP:0000504Abnormality of vision
HP:0002093Respiratory insufficiency
HP:0002829Arthralgia
HP:0003401Paresthesia
HP:0012378Fatigue
Периодический (5–29%)14
HP:0000989Pruritus
HP:0001297Stroke
HP:0001409Portal hypertension
HP:0001894Thrombocytosis
HP:0001974Leukocytosis
HP:0002204Pulmonary embolism
HP:0002239Gastrointestinal hemorrhage
HP:0002639Budd-Chiari syndrome
HP:0004417Intermittent claudication
HP:0004420Arterial thrombosis
HP:0004936Venous thrombosis
HP:0030242Portal vein thrombosis
HP:0032147Erythromelalgia
HP:0033842Early satiety

Эпидемиология (3)

Annual incidence
1-9 / 100 000
Europe
Point prevalence
1-5 / 10 000
Europe
Point prevalence
1-5 / 10 000
Italy

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы