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CCM3 Mutation

The CCM3 genetic mutation creates cerebral cavernous angiomas (cavernous malformations) but has distinct features that warrant special consideration. An alternate name for this gene is PDCD10.

CCM3 is both an extremely rare and a more serious mutation than the other mutations that cause cerebral cavernous angiomas. As of this writing, we know of only 30 people who have been identified with the CCM3 mutation in the United States. At least half of those identified began to exhibit serious symptoms as children, including multiple brain hemorrhages. It also appears that the CCM3 mutation may cause problems in other body systems or may contribute to other illnesses such as the development of benign brain tumors and scoliosis.

Angioma Alliance has established a CCM3 Care and Clinical Research Center at the University of Chicago. We also have a Facebook group specifically for families affected with this mutation. If you have been diagnosed with a mutation of the CCM3 gene, please contact us at info@angioma.org to learn more about the clinic.  

This page was last updated on 7/12/2017