| Disease ID | Source | Name | Description |
| 601709 | OMIM | Quebec platelet disorder (QPD) | An autosomal dominant bleeding disorder due to a gain-of-function defect in fibrinolysis. Although affected individuals do not exhibit systemic fibrinolysis, they show delayed onset bleeding after challenge, such as surgery. The hallmark of the disorder is markedly increased PLAU levels within platelets, which causes intraplatelet plasmin generation and secondary degradation of alpha-granule proteins. The disease is caused by variants affecting the gene represented in this entry. |