Bernard-Soulier syndrome
ORPHA:274DiseaseAutosomal dominant, Autosomal recessiveAll ages
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| GP1BA | glycoprotein Ib platelet subunit alpha | Disease-causing germline mutation(s) in | gene with protein product | 606672 |
| GP1BB | glycoprotein Ib platelet subunit beta | Disease-causing germline mutation(s) in | gene with protein product | 138720 |
| GP9 | glycoprotein IX platelet | Disease-causing germline mutation(s) in | gene with protein product | 173515 |
Фенотипы (HPO)21
Облигатный (100%)1
HP:0011871Impaired ristocetin-induced platelet aggregation
Очень частый (80–99%)4
HP:0001892Abnormal bleeding
HP:0001902Giant platelets
HP:0011879Decreased platelet glycoprotein Ib-IX-V
HP:0040185Macrothrombocytopenia
Частый (30–79%)6
HP:0000132Menorrhagia
HP:0000967Petechiae
HP:0002239Gastrointestinal hemorrhage
HP:0004406Spontaneous, recurrent epistaxis
HP:0006298Prolonged bleeding after dental extraction
HP:0007420Spontaneous hematomas
Периодический (5–29%)6
HP:0000225Gingival bleeding
HP:0000978Bruising susceptibility
HP:0002248Hematemesis
HP:0004846Prolonged bleeding after surgery
HP:0012143Abnormal megakaryocyte morphology
HP:0012587Macroscopic hematuria
Очень редкий (1–4%)4
HP:0001250Seizure
HP:0002076Migraine
HP:0002099Asthma
HP:0008738Partially duplicated kidney
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)