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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Cerebral cavernous malformation


Other Names for this Disease

  • Cavernoma
  • Cavernous angioma
  • CCM
  • Cerebral cavernous hemangioma
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

I was diagnosed with the genetic form of cerebral cavernous malformation (CCM) today and it is believed at least one of my children also has it. Can a person have more than one of the genes that cause this condition? How often does it run in families?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What genes have been associated with cerebral cavernous malformation (CCM)?

Mutations in at least three genes, KRIT1 (also known as CCM1), CCM2, and PDCD10 (also known as CCM3) are known to cause familial CCM. Mutations in these three genes account for 85 to 95 percent of all cases of familial CCM. The remaining 5 to 15 percent of cases may be due to mutations in unidentified genes or to other unknown causes. Mutations in the KRIT1, CCM2, and PDCD10 genes are not involved in sporadic CCMs. The cause of this form of the condition is unknown.[1]
Last updated: 12/5/2012

Can a person have more than one of the genes that cause cerebral cavernous malformation (CCM)?

While we have not identified any reports of patients with mutations in more than one of the above-mentioned genes, it is not outside the realm of possibility. Nonetheless, it is highly unlikely. Molecular genetic testing can identify if you have one or more of the genes associated with this disorder.
Last updated: 12/5/2012

Is genetic testing available for cerebral cavernous malformation (CCM)?

Yes, genetic testing is available for familial cerebral cavernous malformation.  Genetic testing can detect a mutation in one of the three known CCM genes (KRIT1, CCM2 or PDCD10) in 70 percent to 80 percent of individuals from families with CCM. The remaining 20 percent to 30 percent of cases may be due to unidentified genes or to other unknown causes.[1] If no mutation is detected in one of those three genes, research testing may be performed to identify families that demonstrate linkage to a fourth potential location of a CCM gene.[2]

You can find a list of laboratories that provide genetic testing for CCM through the Genetic Testing Registry (GTR). The GTR is a centralized online resource for information about genetic tests. The intended audience is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Genetic testing can not be performed on a blood sample from someone with sporadic CCM becuase the gene mutation may be located in tissues other than the blood.[3]
Last updated: 12/5/2012

How often do cerebral cavernous malformations (CCMs) run in families?

Cerebral cavernous malformations (CCMs) affect about 0.5 percent of the population worldwide.[1] Eighty percent of these cases are sporadic and 20 percent are familial.[4]
Last updated: 12/5/2012

References
Other Names for this Disease
  • Cavernoma
  • Cavernous angioma
  • CCM
  • Cerebral cavernous hemangioma
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.