Von Willebrand disease
ORPHA:903DiseaseAutosomal dominant, Autosomal recessiveAll ages
Фенотипы (HPO)20
Очень частый (80–99%)4
HP:0001872Abnormality of thrombocytes
HP:0001928Abnormality of coagulation
HP:0008330Reduced von Willebrand factor activity
HP:0011869Abnormal platelet function
Частый (30–79%)7
HP:0000132Menorrhagia
HP:0000421Epistaxis
HP:0000471Gastrointestinal angiodysplasia
HP:0000978Bruising susceptibility
HP:0001633Abnormal mitral valve morphology
HP:0003125Reduced factor VIII activity
HP:0030129Impaired ristocetin cofactor assay activity
Периодический (5–29%)9
HP:0000967Petechiae
HP:0001873Thrombocytopenia
HP:0001935Microcytic anemia
HP:0002239Gastrointestinal hemorrhage
HP:0003645Prolonged partial thromboplastin time
HP:0004097Deviation of finger
HP:0005261Joint hemorrhage
HP:0005293Venous insufficiency
HP:0040242Muscle hemorrhage
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 10 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)