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Diseases

Genetic and Rare Diseases Information Center (GARD)

Cerebral cavernous malformation


Other Names for this Disease
  • CCM
  • Cerebral cavernous hemangioma
  • Cavernous angioma
  • Cavernoma
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Overview

Cerebral cavernous malformations (CCMs) are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure which lead to altered blood flow. Cavernous malformations can occur anywhere in the body, but usually produce serious signs and symptoms only when they occur in the central nervous system (the brain and spinal cord). Cavernous malformations in the brain and/or spinal cord are called cerebral cavernous malformations.  Approximately 25 percent of individuals with cerebral cavernous malformations never experience any related medical problems. Other people with cerebral cavernous malformations may experience serious symptoms such as headaches, seizures, paralysis, hearing or vision deficiencies, and bleeding in the brain (cerebral hemorrhage). These malformations can change in size and number over time, but they do not become cancerous.[1][2] This condition can be sporadic or it can be inherited in an autosomal dominant pattern. Mutations in the KRIT1(CCM1), CCM2, and PDCD10 (CCM3) genes cause cerebral cavernous malformation.[2] Treatment depends upon the symptoms. Seizures are usually treated with antiepileptic medications or surgery.[1]
Last updated: 12/14/2015

References

  1. NINDS Cerebral Cavernous Malformation Information Page. National Institute of Neurological Disorders and Stroke (NINDS). February 2015; http://www.ninds.nih.gov/disorders/cavernous_malformation/cavernous_malformation.htm. Accessed 12/14/2015.
  2. Cerebral cavernous malformation. Genetics Home Reference. November 2012; http://ghr.nlm.nih.gov/condition/cerebral-cavernous-malformation. Accessed 12/14/2015.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cerebral cavernous malformation. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • CCM
  • Cerebral cavernous hemangioma
  • Cavernous angioma
  • Cavernoma
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.