You are using an outdated browser. Please upgrade your browser to improve your experience.

cerebral cavernous malformation 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene.
Uniprot Description A congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters.
Mondo Term and Equivalent IDs
MONDO:0011304:  cerebral cavernous malformation 2
MESH:C566394: 
UMLS:C1864041: