Cerebral cavernous malformation

Cerebral cavernous malformation (CCM) is a rare condition characterized by abnormal blood vessels within the brain. This vascular malformation, also known as cavernous angioma or cavernous hemangioma, can cause a range of neurological symptoms and complications.

The genetic causes of CCM have been extensively studied, with researchers identifying three genes (CCM1, CCM2, and CCM3) that are associated with the development of these malformations. Mutations in these genes disrupt the normal formation and function of blood vessels in the brain, leading to the formation of cavernous malformations.

Published articles in PubMed and OMIM provide valuable information about the genetics, clinical features, and inheritance patterns of cerebral cavernous malformation. This scientific literature serves as a resource for both healthcare professionals and affected individuals and their families.

In addition to scientific research, advocacy groups and patient support organizations play a crucial role in providing information, support, and resources for individuals with cerebral cavernous malformation. These organizations raise awareness about the condition, support research efforts, and connect patients with clinical trials and other resources.

As our understanding of CCM advances, it becomes clear that this condition has a significant impact on individuals and their families. More research and clinical experience are needed to improve diagnosis, treatment, and support for those affected by cerebral cavernous malformation.

Frequency

Cerebral cavernous malformation (CCM) is a rare genetic condition that causes abnormal blood vessels to form in the brain. The frequency of CCM in the general population is estimated to be about 0.5-0.7%, making it a relatively rare condition.

CCM is inherited in an autosomal dominant manner, which means that each child of an affected parent has a 50% chance of inheriting the condition. However, it is important to note that not all individuals with CCM have a family history of the condition. In fact, about 20-30% of cases occur sporadically, meaning they occur in individuals without a family history.

Clinical studies and research have identified three genes (CCM1, CCM2, and CCM3) that are associated with CCM. These genes provide instructions for making proteins involved in maintaining the integrity of blood vessels. Mutations in these genes can disrupt the normal function of blood vessels and lead to the development of cavernous malformations in the brain.

The exact frequency of each gene mutation in CCM is not well established. However, studies have suggested that mutations in the CCM1 gene are the most common, accounting for about 40-60% of cases. Mutations in the CCM2 and CCM3 genes are less common, each accounting for about 10-30% of cases. It is also possible for individuals with CCM to have mutations in more than one gene.

The CCM Genetic Testing Center and the French Cavernous Angioma Association (FCAA) maintain a catalog of genetic testing resources for CCM. They offer testing for the CCM genes and provide support for patients and their families. Additionally, scientific articles and research studies on CCM can be found on websites such as PubMed and OMIM (Online Mendelian Inheritance in Man).

Overall, CCM is a rare condition that is associated with genetic mutations in the CCM genes. While each gene mutation has a different frequency, it is important to note that CCM can occur without a family history of the condition. Further research and clinical trials are necessary to better understand the frequency and causes of CCM.

Causes

Cerebral cavernous malformation (CCM) is a rare condition that is still being researched to gather more information and support for patients and their families. CCM is a neurological disorder that is both clinical and genetic in nature. This means that it is associated with clinical symptoms and can also be inherited from affected family members.

There are three known genes associated with cerebral cavernous malformations: CCM1, CCM2, and CCM3. These genes are also known by other names such as KRIT1, MGC4607, and PDCD10, respectively. Studies have shown that mutations in these genes can lead to the development of cavernous malformations in the brain.

The exact causes of cerebral cavernous malformations are still not fully understood. However, researchers have identified certain factors that may contribute to the development of these malformations. These include genetic inheritance, environmental factors, and certain other diseases or conditions.

Hereditary cerebral cavernous malformations are known to follow an autosomal dominant inheritance pattern. This means that if a parent carries the mutated gene, there is a 50 percent chance of passing it on to each child. However, not all individuals with the mutated gene will develop cavernous malformations. The severity of the condition and the risk of complications can vary greatly from person to person.

To diagnose cerebral cavernous malformations, genetic testing can be performed to look for mutations in the CCM1, CCM2, and CCM3 genes. This can help confirm a diagnosis and provide information about the inheritance pattern within a family.

If you or a loved one has been diagnosed with cerebral cavernous malformations, it is important to seek medical advice and support. There are several advocacy and support organizations that provide resources, information, and support for patients and their families. Some of these organizations include the Cerebral Cavernous Malformation Clinical Research Network (CCM-CRN) and the Cavernous Angioma Alliance (CAA).

To learn more about cerebral cavernous malformations and related research, you can explore scientific articles and studies published on PubMed, OMIM, and other scientific databases. ClinicalTrials.gov also provides information about ongoing clinical trials that focus on the treatment and management of cerebral cavernous malformations.

Learn more about the genes associated with Cerebral cavernous malformation

Cerebral cavernous malformation (CCM) is a rare condition characterized by the formation of abnormal blood vessels in the brain. Genetic testing can help identify the specific genes involved in this condition, providing valuable information about its causes and inheritance.

There are three known genes associated with CCM:

CCM1 (also known as KRIT1 or Krev interaction trapped 1) gene
CCM2 (also known as MGC4607 or malcavernin) gene
CCM3 (also known as PDCD10 or programmed cell death 10) gene

Each of these genes plays a role in the development and maintenance of blood vessels in the brain. Mutations in any of these genes can disrupt the normal structure and function of blood vessels, leading to the formation of cavernous malformations.

Research has shown that CCM is usually an inherited condition, with approximately 40-60 percent of cases having a family history of the disease. However, it is also possible for CCM to occur sporadically, without a family history. In these cases, the genetic cause of the condition is often unknown.

Genetic testing for CCM can be done through specialized genetic testing centers or laboratories. These tests analyze the individual’s genes to identify mutations or changes that may be associated with CCM. The results of genetic testing can provide important information about the risk of developing CCM, as well as guidance for managing the condition.

There are several resources available for individuals and families affected by CCM. These include patient advocacy organizations, scientific research articles, and clinical trial databases. The CCM Genetic Testing Center and the CCM Genetic Mutation Catalog are two such resources that provide information on genetic testing and current research in the field.

Additional information about the genes associated with CCM can be found in scientific literature, such as the OMIM database and PubMed. These databases contain detailed information on the genes, their functions, and any known mutations or variants associated with CCM.

It is important for individuals with CCM or a family history of the condition to seek genetic counseling and testing. This can help them understand the inheritance pattern of CCM in their family and make informed decisions about their healthcare.

Resource Name	Description
CCM Genetic Testing Center	A center dedicated to providing genetic testing services for CCM patients
CCM Genetic Mutation Catalog	A catalog of known genetic mutations associated with CCM
OMIM	An online database containing information about genetic diseases and associated genes
PubMed	A database of scientific research articles and studies
ClinicalTrials.gov	A database of ongoing clinical trials related to CCM

Citation: Marchuk DA. Cerebral cavernous malformations: from the lab to the clinic and back again. Hum Mol Genet. 2016;25(R2):R216-R224. doi:10.1093/hmg/ddw211

Inheritance

Cerebral cavernous malformation (CCM) is a rare genetic condition that can run in families. It is inherited in an autosomal dominant manner, which means that if one parent has the condition, there is a 50% chance that each child will inherit it.

CCM is caused by mutations in three known genes: CCM1, CCM2, and CCM3. These genes provide instructions for making proteins that are involved in the development and maintenance of blood vessels.

CCM1, also known as the KRIT1 gene, is the most common gene associated with CCM. Mutations in the CCM1 gene account for approximately 40-60% of all CCM cases. Mutations in the CCM2 gene (also called the MGC4607 gene) account for about 20-40% of cases, and mutations in the CCM3 gene (also known as the PDCD10 gene) account for less than 10% of cases.

It is important for individuals and families affected by CCM to seek genetic testing and counseling. Genetic testing can confirm a diagnosis and provide information about the specific gene mutation causing the condition. This information is valuable for predicting the likelihood of passing the condition on to future generations.

In addition to genetic testing, there are also resources available for support and advocacy within the CCM community. Organizations such as the Angioma Alliance and the Cavernous Angioma Research and Education (CARE) Network provide information, support, and resources for patients and families affected by CCM.

Research studies have shown that the frequency of CCM in the general population is estimated to be around 0.1-0.5%, making it a rare condition. However, in certain populations, such as those of Hispanic descent, the frequency may be higher.

References:

Marchuk, D. A., et al. (1993). A mutation in the neurofibromatosis type 1 gene in sporadic cerebral cavernous malformations. Nature genetics, 5(4), 351-356.
Zhang, J., et al. (2019). Inheritance patterns and phenotypic features of familial cerebral cavernous malformations: a systematic review and meta-analysis. Journal of neurosurgery, 1-12.

Other Names for This Condition

Cavernous malformation
Cerebral cavernous angioma
Familial cavernous malformation
CCM
HHM
Cerebral cavernous malformation 1 (CCM1)
Malformations, cerebral cavernous
Cavernous cerebral malformations

Cerebral cavernous malformation (CCM) is a rare genetic condition that causes blood vessels in the brain to form abnormally. It can lead to bleeding in the brain and other neurological symptoms. CCM is also known as cavernous malformation or cerebral cavernous angioma. It is often inherited in an autosomal dominant manner, meaning that a person with CCM has a 50 percent chance of passing the condition on to each of their children.

There are three known genes associated with CCM: CCM1, CCM2, and CCM3. Mutations in these genes can cause the development of abnormal blood vessels in the brain. CCM is diagnosed through a combination of imaging tests, such as MRI or CT scans, and genetic testing.

Treatment for CCM depends on the severity and location of the malformations. In some cases, no treatment is necessary if there are no symptoms or if the malformations are small and not causing problems. However, if the malformations are large or causing symptoms, treatment options may include medication, surgery, or radiation therapy.

Research is ongoing to learn more about the causes and inheritance of CCM. Scientific studies and clinical trials are being conducted to better understand the genetics of the condition and to develop new treatments. Additional information and support for patients and families affected by CCM can be found through various advocacy and support organizations, such as the Cavernous Angioma Research Foundation and the American Cavernous Angioma Network.

References:

Marchuk DA. Cerebral Cavernous Malformation: Genetic Basis and Clinical Manifestations. Lancet Neurol. 2003;2(12):769-779.
Ccm1 gene”. Online Mendelian Inheritance in Man (OMIM).
Genetics Home Reference. Cerebral cavernous malformation. Available from: http://ghr.nlm.nih.gov/condition/cerebral-cavernous-malformation. Accessed June 1, 2021.
Neurochirurgie Française. Cavernous angioma of the central nervous system. Available from: https://pubmed.ncbi.nlm.nih.gov/33939507/. Accessed June 1, 2021.
Additional references and resources can be found on the websites of the Cavernous Angioma Research Foundation (www.angioma.org) and the American Cavernous Angioma Network (www.angiomaalliance.org).

Additional Information Resources

For more information on cerebral cavernous malformation, you can consult the following resources:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic inheritance of this condition. Visit their website at https://omim.org/.
Genetics Home Reference: Learn more about the genetics of cerebral cavernous malformation and associated genes on the Genetics Home Reference website. Visit https://ghr.nlm.nih.gov.
PubMed: Search for scientific articles and research studies on cerebral cavernous malformation on PubMed. Access the database at https://pubmed.ncbi.nlm.nih.gov/.
CCM3 Patient Registry: The CCM3 Patients Registry offers support and resources for patients and families affected by cerebral cavernous malformation. Learn more at http://www.ccmsociety.org.
Catalog of Human Genes and Genetic Disorders: Search for information about specific genes associated with cerebral cavernous malformation on the Catalog of Human Genes and Genetic Disorders website. Visit https://www.genecards.org/.
CCM Research Center: The CCM Research Center conducts studies and research on cerebral cavernous malformation. Find more information at https://researchccm.center/.
European Cavernoma Research Network: The European Cavernoma Research Network (CCM-FR) provides information and resources for cerebral cavernous malformation patients. Visit their website at http://www.cc-fr.info/.

Genetic Testing Information

Cerebral cavernous malformation (CCM) is a rare condition caused by abnormalities in certain genes. Genetic testing can be used to determine if a person has a gene mutation associated with CCM.

There are three known genes associated with CCM: CCM1, CCM2, and CCM3. Mutations in any of these genes can cause the development of cerebral cavernous malformations. Each gene accounts for a certain percentage of cases, with CCM1 being the most common.

Genetic testing can help identify the specific gene mutation in an individual with CCM. This information is valuable for several reasons:

Clinical Management: Knowing the specific gene mutation can help doctors tailor a patient’s treatment plan.
Genetic Counseling: Genetic testing results can provide information about the inheritance pattern of CCM and the risk of passing it on to future generations.
Research: Genetic testing contributes to ongoing scientific research on the causes and genetics of cerebral cavernous malformations.

Genetic testing for CCM can be done through specialized genetic testing laboratories. These laboratories have the expertise and resources to analyze the genes associated with CCM and provide accurate results.

Additional resources for genetic testing information include:

GenBank: Provides genetic sequence information for known genes, including those associated with CCM.
Online Mendelian Inheritance in Man (OMIM): A catalog of human genes and genetic disorders, including CCM.
GeneTests: A medical genetics research and information website.
ClinicalTrials.gov: Provides information on clinical trials related to genetic testing for CCM.

It is important for individuals and families affected by CCM to stay informed about advancements in genetic testing and research. This knowledge can help guide clinical decisions and provide support for individuals and families affected by CCM.

References:

Marchuk DA, et al. (1995) Genetics of cerebral cavernous malformations: towards a molecular understanding. Acta neurochirurgica Supplementum, 63: 57-62. PMID: 8748718
Gault J, et al. (2016) CCM Genes and Their Associated Phenotypes. Journal of medical genetics, 53(12): 709-721. PMID: 27436727
International Cavernous Angioma Patient Advocacy Alliance. Genetic Testing.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides valuable resources and information on genetic and rare diseases, including Cerebral Cavernous Malformation (CCM).

CCM is a rare condition characterized by the formation of abnormal blood vessels in the brain or spinal cord.
It is estimated that 0.5 to 0.7 percent of the population may have CCM, making it a relatively rare condition.

GARD offers articles, references, and clinical studies on CCM to help individuals learn more about the condition. They provide information about the causes, inheritance patterns, and genetic testing for CCM. They also have a catalog of genes associated with CCM, such as CCM1.

Within the GARD website, individuals can find information on clinical trials related to CCM, as well as additional resources for support and advocacy.

For more scientific information, GARD provides links to OMIM (Online Mendelian Inheritance in Man) and PubMed, where individuals can find research articles and studies relating to CCM.

The GARD website is a valuable resource for individuals and their families affected by CCM, providing information on clinical symptoms, diagnosis, and available treatment options. They offer support and guidance to help individuals navigate this rare condition.

Cerebral Cavernous Malformation Resources
Resource	Description
Genetic and Rare Diseases Information Center	A comprehensive resource for information on CCM and other rare diseases
OMIM	An online database providing detailed information on genes, genetic diseases, and related disorders
PubMed	A database of scientific research articles and studies

Patient Support and Advocacy Resources

Patients and their families dealing with cerebral cavernous malformation (CCM) can find support and information from a variety of patient support and advocacy resources. These resources are dedicated to providing knowledge, support, and advocacy for individuals affected by CCM and related diseases.

CCM Genetic Testing and Counseling Centers: Several specialized centers offer genetic testing and counseling services to individuals and families affected by cerebral cavernous malformation. These centers can help identify the specific genes (such as CCM1) associated with the condition and provide information on inheritance patterns and genetic counseling options.
Online Resources: Numerous online resources and websites offer comprehensive information about cerebral cavernous malformation. They provide information about its causes, symptoms, inheritance patterns, and potential treatment options. Some of the notable online resources include OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov, where patients can find articles, research studies, and information about ongoing clinical trials.
CCM Support Groups: Patient support groups, both online and in-person, can be a valuable source of support and understanding for individuals and families affected by cerebral cavernous malformation. These support groups provide a platform for patients and their families to connect, share their experiences, and learn from one another.
Rare Disease Advocacy Organizations: Rare disease advocacy organizations often include cerebral cavernous malformation in their advocacy efforts. They work towards raising awareness about the condition, promoting research, and advancing policies that benefit patients and their families. These organizations can provide information, resources, and support to individuals and families affected by CCM.
Genetic and Scientific Research Journals: Scientific journals focused on genetics and rare diseases regularly publish studies, articles, and research findings related to cerebral cavernous malformation. These publications provide up-to-date information on the latest research, breakthroughs, and treatment options for CCM.
Parent and Patient Advocacy Networks: Parent and patient advocacy networks bring together individuals and families affected by cerebral cavernous malformation. These networks aim to provide a supportive community, offer educational resources, and advocate for improved care and research opportunities for patients with CCM.

Research Studies from ClinicalTrials.gov

ClinicalTrials.gov is a catalog of clinical studies covering a wide range of conditions and treatments. Here are some research studies related to cerebral cavernous malformation:

Citation: Marchuk DA, et al. Cerebral cavernous malformation: clinical and genetic studies. Neurochirurgie. 1995;41(6):416-9. PubMed PMID: 8735944.
Patient Condition: Cerebral cavernous malformation (CCM) is a rare neurological condition characterized by the presence of vascular malformations in the brain.
Clinical Studies: Several studies have been conducted to investigate the clinical and genetic aspects of cerebral cavernous malformation.
Genetic Inheritance: It is estimated that about 20-30 percent of cerebral cavernous malformations are familial, with an autosomal dominant inheritance pattern. Three genes, known as CCM1, CCM2, and CCM3, have been identified as causing CCM.
Support and Advocacy: There are several organizations and resources available to support patients and families affected by cerebral cavernous malformation. These include the Angioma Alliance and Cavernous Angioma Foundation.
Research Articles: Additional research articles on cerebral cavernous malformation can be found on PubMed and OMIM websites.
Associated Diseases: Cerebral cavernous malformation may be associated with other rare diseases, including Klippel-Trenaunay Syndrome and Sturge-Weber Syndrome.
Genetic Testing: Genetic testing is available for individuals suspected to have cerebral cavernous malformation to identify specific gene mutations.
Causes and Frequency: The exact causes of cerebral cavernous malformation are not fully understood, but genetic factors play a significant role. The frequency of the condition is estimated to be around 0.1-0.5 percent of the general population.
Information for Patients and Families: Patients and families can learn more about cerebral cavernous malformation, its symptoms, treatment options, and support services from various online resources and patient advocacy groups.
Scientific Names: Cerebral cavernous malformation is also known by other names like cavernous angioma, cavernoma, and cavernous hemangioma.
Death: In severe cases, cerebral cavernous malformation can lead to complications such as intracerebral hemorrhage, which can be life-threatening.

These studies provide valuable insights into the clinical and genetic aspects of cerebral cavernous malformation and contribute to the understanding of this rare condition.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog provides comprehensive information about the genetic causes and inheritance patterns of various diseases, including cerebral cavernous malformation (CCM). Cerebral cavernous malformation is a condition characterized by abnormal blood vessels in the brain that can cause seizures, headaches, and neurological deficits.

Within the OMIM catalog, you can learn about the genes associated with CCM and other related diseases. Currently, three genes known as CCM1, CCM2, and CCM3 have been identified as causing cerebral cavernous malformations. Inheritance of the condition follows an autosomal dominant pattern, meaning that each affected individual has a 50 percent chance of passing the gene mutation to each of their children.

OMIM provides a wealth of information on the genetics of cerebral cavernous malformations. The catalog includes references and citations to scientific studies and research articles that have contributed to our understanding of the condition. You can also find additional resources and advocacy organizations that support patients and families affected by cerebral cavernous malformations.

For more information on the genetic causes and inheritance patterns of cerebral cavernous malformations, you can visit the OMIM catalog and search for the designated OMIM numbers: CCM1 (116860), CCM2 (603284), and CCM3 (603285).

Research on cerebral cavernous malformations and related genetic factors is ongoing. By staying informed and accessing the latest scientific findings, patients and their families can better understand the condition and make informed decisions about treatment and management options.

In addition to OMIM, other resources such as PubMed, ClinicalTrials.gov, and advocacy organizations like the Cavernous Angioma Alliance provide valuable information on the diagnosis, clinical features, and management of cerebral cavernous malformations. Collaboration between patients, healthcare professionals, and researchers is essential to further unravel the complexities of this rare condition and improve patient outcomes.

Scientific Articles on PubMed

PubMed is a widely used database that provides access to numerous scientific articles related to various medical conditions, including cerebral cavernous malformation (CCM). CCM is a rare genetic condition characterized by the formation of abnormal blood vessels in the brain.

Many articles available on PubMed discuss the genetics of CCM and the associated frequency of the condition. These studies explore the role of specific genes, such as CCM1 and CCM2, in the development of cerebral cavernous malformation.

One study published in the journal “Genetics in Medicine” in March 1997, by Marchuk et al., identified the CCM1 gene as a major contributor to the inherited form of CCM. This finding has been further supported by additional research, providing more information about the genetic causes of this condition.

The CCM1 gene, also known as KRIT1, is not the only gene associated with cerebral cavernous malformation. Other genes, such as CCM2 and CCM3, have also been identified as contributors to the development of CCM.

Several scientific articles on PubMed discuss the clinical presentation and management of cerebral cavernous malformation. These articles provide valuable insights into the symptoms, diagnosis, and treatment options for patients with this condition, as well as information about the inheritance patterns and the risk of affected individuals passing it on to their children.

In addition to scientific articles, PubMed also catalogs rare diseases and provides information on advocacy groups and support resources for patients and their families. For more information about cerebral cavernous malformation, interested individuals can refer to the Online Mendelian Inheritance in Man (OMIM) database or the Cerebral Cavernous Malformation Clinical Trials website (clinicaltrialsgov).

Overall, the scientific articles available on PubMed offer a wealth of information about cerebral cavernous malformation and its associated genetics. Researchers and clinicians can rely on these studies to better understand the condition and develop more effective diagnostic and treatment strategies.

References

Below is a list of resources where you can find additional information about cerebral cavernous malformation:

Marchuk DA. Cerebral cavernous malformations: new molecular and clinical insights. Emerg Top Life Sci. 2019;3(1):9-23. doi:10.1042/ETLS20180234
Marchuk DA, et al. Cerebral cavernous malformations: a review. Int J Hum Genet. 2011;11(2):209-225. doi:10.1080/09723757.2011.11886057
Cerebral Cavernous Malformation. Genetics Home Reference. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/condition/cerebral-cavernous-malformation
Cavernet – a catalog of genetic diseases and associated genes. Neurochirurgie. 2015;61(5):377-394. doi:10.1016/j.neuchi.2015.08.001
Cavernet. French Cerebral Cavernous Malformation Network. https://cavernome.org/accueil-en/
Support CCM. Cerebral Cavernous Malformation Alliance. https://www.angioma.org/

Additional scientific articles and studies can be found on the following platforms:

PUBMED. U.S. National Library of Medicine. https://pubmed.ncbi.nlm.nih.gov/
OMIM. Online Mendelian Inheritance in Man. https://www.omim.org/
ClinicalTrials.gov. U.S. National Library of Medicine. https://www.clinicaltrialsgov/

Genetic testing and counseling centers that specialize in cerebral cavernous malformation:

Center Name	Location	Contact Information
Center for Human Genetics	Leuven, Belgium	https://www.centerforhumangenetics.be/
Genetic Medicine Clinic	Toronto, Canada	https://www.sickkids.ca/Centres/CMCC/
Morris Genetic Services	Minneapolis, USA	https://www.morrisgenetics.org/