Multiple Cutaneous and Mucosal Venous Malformations
From SNPedia
At a minimum, these SNPs are known to be related, and others may also be
| Max Magnitude | |
|---|---|
| rs387906745 | 5 |
| rs639225 | 0 |
| rs80338908 | 5 |
| rs80338909 | 5 |
Multiple cutaneous and mucosal venous malformations (also known as VMCM) are bluish patches (lesions) on the skin (cutaneous) and the mucous membranes, such as the lining of the mouth and nose. These lesions represent areas where the underlying veins and other blood vessels did not develop properly (venous malformations). The lesions can be painful, especially when they extend from the skin into the muscles and joints, or when a calcium deposit forms within the lesion causing inflammation and swelling.Genetics Home Reference
Inherited in a dominant manner, mutations in the TEK gene have been reported to cause this condition, including:
- rs80338908
- rs80338909 (both A>G and A>C)
- rs387906745
