| Disease ID | Source | Name | Description |
| 277450 | OMIM | Combined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1) | VKCFD leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. The disease is caused by variants affecting the gene represented in this entry. |
| 610842 | OMIM | Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) | Characterized by hyperlaxity of the skin involving the entire body. Important phenotypic differences with classical PXE include much more severe skin laxity with spreading toward the trunk and limbs with thick, leathery skin folds rather than confinement to flexural areas, and no decrease in visual acuity. Moreover, detailed electron microscopic analyzes revealed that alterations of elastic fibers as well as their mineralization are slightly different from those in classic PXE. The disease is caused by variants affecting the gene represented in this entry. |