| Disease ID | Source | Name | Description |
| 618196 | OMIM | Capillary malformation-arteriovenous malformation 2 (CMAVM2) | An autosomal dominant disorder characterized by multiple, round to oval or more irregularly shaped macules that are pinkish red in color and are randomly distributed across the body. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome. The disease is caused by variants affecting the gene represented in this entry. |
| 617300 | OMIM | Lymphatic malformation 7 (LMPHM7) | A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM7 is an autosomal dominant form with variable expressivity. Some individuals present with severe non-immune hydrops fetalis, which may cause perinatal demise or fully resolve after the neonatal period. Others present with no edema and have milder clinical features, such as atrial septal defect or varicose veins as adults. The disease is caused by variants affecting the gene represented in this entry. |