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Congenital factor V deficiency

ORPHA:326DiseaseAutosomal recessiveAll ages

Ассоциированные гены (1)

F5
coagulation factor V
Disease-causing germline mutation(s) in
OMIM: 612309

Фенотипы (19)

Частый (30–79%)2
HP:0000421Epistaxis
HP:0005261Joint hemorrhage
Периодический (5–29%)13
HP:0000132Menorrhagia
HP:0000225Gingival bleeding
HP:0000790Hematuria
HP:0000978Bruising susceptibility
HP:0001934Persistent bleeding after trauma
HP:0002239Gastrointestinal hemorrhage
HP:0004846Prolonged bleeding after surgery
HP:0006298Prolonged bleeding after dental extraction
HP:0007420Spontaneous hematomas
HP:0011890Prolonged bleeding following procedure
HP:0011891Post-partum hemorrhage
HP:0030137Prolonged bleeding following circumcision
HP:0030140Oral cavity bleeding
Очень редкий (1–4%)4
HP:0002105Hemoptysis
HP:0002170Intracranial hemorrhage
HP:0002573Hematochezia
HP:0100608Metrorrhagia

Эпидемиология (1)

Point prevalence
1-9 / 1 000 000
Europe

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы