Congenital plasminogen activator inhibitor type 1 deficiency
ORPHA:465DiseaseAutosomal recessiveAdolescent, Adult, Childhood, Elderly
Ассоциированные гены1
Фенотипы (HPO)25
Очень частый (80–99%)7
HP:0001934Persistent bleeding after trauma
HP:0004846Prolonged bleeding after surgery
HP:0040228Decreased level of plasminogen
HP:0040230Decreased level of tissue plasminogen activator
HP:0040245Reduced alpha-2-antiplasmin activity
HP:0040248Reduced plasminogen activator inhibitor 1 activity
HP:0040249Reduced plasminogen activator inhibitor 1 antigen
Частый (30–79%)4
HP:0000132Menorrhagia
HP:0001622Premature birth
HP:0001933Subcutaneous hemorrhage
HP:0005268Spontaneous abortion
Периодический (5–29%)7
HP:0000421Epistaxis
HP:0002170Intracranial hemorrhage
HP:0002239Gastrointestinal hemorrhage
HP:0006298Prolonged bleeding after dental extraction
HP:0011891Post-partum hemorrhage
HP:0030657Umbilical cord hematoma
HP:0040184Oral bleeding
Очень редкий (1–4%)6
HP:0011854Hemoperitoneum
HP:0012233Intramuscular hematoma
HP:0100310Epidural hemorrhage
HP:0001058Poor wound healing
HP:0001685Myocardial fibrosis
HP:0005261Joint hemorrhage
Исключён (0%)1
HP:0007420Spontaneous hematomas
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)