Disease ID | Source | Name | Description |
227300 | OMIM | Factor V and factor VIII combined deficiency 1 (F5F8D1) | A blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal. The disease is caused by variants affecting the gene represented in this entry. |