Glanzmann thrombasthenia
ORPHA:849DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)20
Очень частый (80–99%)2
HP:0003010Prolonged bleeding time
HP:0004406Spontaneous, recurrent epistaxis
Частый (30–79%)4
HP:0000225Gingival bleeding
HP:0000978Bruising susceptibility
HP:0004846Prolonged bleeding after surgery
HP:0030137Prolonged bleeding following circumcision
Периодический (5–29%)7
HP:0000132Menorrhagia
HP:0000979Purpura
HP:0002239Gastrointestinal hemorrhage
HP:0007420Spontaneous hematomas
HP:0012587Macroscopic hematuria
HP:0031364Ecchymosis
HP:0400008Menometrorrhagia
Очень редкий (1–4%)1
HP:0011871Impaired ristocetin-induced platelet aggregation
Исключён (0%)6
HP:0004866Impaired ADP-induced platelet aggregation
HP:0008148Impaired epinephrine-induced platelet aggregation
HP:0011870Impaired arachidonic acid-induced platelet aggregation
HP:0011872Impaired thrombin-induced platelet aggregation
HP:0011894Impaired thromboxane A2 agonist-induced platelet aggregation
HP:0031128Impaired collagen-related peptide-induced platelet aggregation
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)