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Cerebral cavernous malformation

From SNPedia

At a minimum, these SNPs are known to be related, and others may also be

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Cavernous hemangioma, also called cavernous angioma, cavernoma, or cerebral cavernous malformation (CCM) (when referring to presence in the brain) is a type of blood vessel malformation or hemangioma, where a collection of dilated blood vessels form a benign tumor. Because of this malformation, blood flow through the cavities, or caverns, is slow. Additionally, the cells that form the vessels do not form the necessary junctions with surrounding cells. Also, the structural support from the smooth muscle is hindered, causing leakage into the surrounding tissue. It is the leakage of blood, known as a hemorrhage from these vessels that causes a variety of symptoms known to be associated with this disease.Wikipedia

Familial CCM is inherited in an autosomal dominant manner, generally based on heterozygous mutations in the KRIT1, CCM2, or PDCD10 genes (defining the CCM1, CCM2 and CCM3 phenotypes, respectively).GeneReviews

In the US, a nonprofit involved in supporting cavernous angioma research and treatment is the Angioma Alliance, which oversees the Baca Family Historical Project.