Combined deficiency of factor V and factor VIII
ORPHA:35909DiseaseAutosomal recessiveAll ages
Ассоциированные гены2
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| MCFD2 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Disease-causing germline mutation(s) in | gene with protein product | 607788 |
| LMAN1 | lectin, mannose binding 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601567 |
Фенотипы (HPO)18
Очень частый (80–99%)4
HP:0003125Reduced factor VIII activity
HP:0003225Reduced coagulation factor V activity
HP:0003645Prolonged partial thromboplastin time
HP:0008151Prolonged prothrombin time
Частый (30–79%)6
HP:0000225Gingival bleeding
HP:0000421Epistaxis
HP:0000978Bruising susceptibility
HP:0006298Prolonged bleeding after dental extraction
HP:0011889Bleeding with minor or no trauma
HP:0030137Prolonged bleeding following circumcision
Периодический (5–29%)6
HP:0000132Menorrhagia
HP:0000790Hematuria
HP:0002170Intracranial hemorrhage
HP:0002239Gastrointestinal hemorrhage
HP:0004846Prolonged bleeding after surgery
HP:0005261Joint hemorrhage
Очень редкий (1–4%)2
HP:0002149Hyperuricemia
HP:0003077Hyperlipidemia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.5 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 1 | Iran, Islamic Republic of | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)