Human Gene Set: HP_CEREBRAL_CAVERNOUS_MALFORMATION
Standard name
HP_CEREBRAL_CAVERNOUS_MALFORMATION
Systematic name
M46341
Brief description
Cerebral cavernous malformation
Full description or abstract
A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries. [PMID:30909834]
