The CCM2 gene, also known as the Cerebral Cavernous Malformation 2 gene, is a gene that plays a crucial role in brain development and maintenance. It has been implicated in the development of cerebral cavernous malformations, which are abnormal clusters of blood vessels in the brain.

CCM2 is one of several genes that have been identified as being associated with familial cerebral cavernous malformation. Mutations in the CCM2 gene can lead to the formation of these malformations, which can result in a variety of health conditions and diseases.

Scientists have made significant progress in understanding the role of the CCM2 gene and its variants in the development of cerebral cavernous malformations. Through genetic testing and other scientific methods, they have identified changes or mutations in the CCM2 gene that are associated with these malformations.

This gene belongs to a larger family of genes, called the CCM1-3 genes, which are collectively known as the cerebral cavernous malformation complex. These genes encode proteins that interact with each other to regulate the formation and maintenance of blood vessels in the brain.

Research on the CCM2 gene and other related genes has provided valuable insights into the underlying causes of cerebral cavernous malformations and has paved the way for the development of genetic tests for diagnosing this condition. Researchers have also created catalog-like databases that contain information on the variations and mutations in the CCM2 gene, as well as other genes related to cerebral cavernous malformations.

References:

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– Awad IA, et al. Cerebral cavernous malformations: genetic and molecular mechanisms. Neurosurgery. 2016 Mar;78(3):N16-8.

– Marchuk DA, et al. Genetic linkage of cerebral cavernous malformations: a relation to cerebral capillary malformations. Lancet. 1995 Aug 5;346(8971):498-99.

– OMIM database: Cerebral cavernous malformations. Available from: https://www.omim.org/entry/603284.

– PubMed database: Cerebral cavernous malformations. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=cerebral+cavernous+malformations.

Health Conditions Related to Genetic Changes

Genetic changes in the CCM2 gene have been associated with various health conditions, particularly the development of cerebral cavernous malformations (CCMs). CCMs are vascular malformations in the brain that can lead to neurological symptoms and other complications.

People with mutations in the CCM2 gene may have an increased risk of developing CCMs. Genetic testing can be performed to identify these changes and provide important health information for affected individuals and their families.

CCM2-related health conditions can vary in severity and presentation. Some individuals may experience symptoms related to CCMs at an early age, while others may remain asymptomatic throughout their lives. It is important to note that not all individuals with CCM2 gene mutations will develop CCMs.

Additional genes, such as CCM1 and CCM3, have also been implicated in the development of cerebral cavernous malformations. Mutations in these genes can result in similar health conditions.

Scientific databases and resources, such as OMIM and PubMed, provide valuable information on genetic changes and associated health conditions. These resources list the names of diseases, genes, and variants, alongside references to relevant articles and studies.

Genetic testing for CCM-related conditions can involve different approaches, such as DNA sequencing or targeted testing for specific variants. Testing can help identify the presence of genetic changes in the CCM2 gene and provide information for diagnosis and management of affected individuals.

Some individuals with CCM-related conditions may benefit from specialized medical care and monitoring. In some cases, surgery or other interventions may be recommended to manage complications or reduce the risk of further health problems.

• Cerebral cavernous malformation: A vascular malformation in the brain that can cause neurological symptoms.
• CCM1: A gene associated with the development of cerebral cavernous malformations.
• CCMs: Abbreviation for cerebral cavernous malformations.
• OMIM: Online Mendelian Inheritance in Man, a comprehensive database of genetic conditions and associated genes.
• PubMed: A database of scientific articles and research papers.

It is important for individuals with CCM-related conditions to consult with healthcare professionals who specialize in genetics, neurology, and related fields. These experts can provide guidance on diagnosis, management, and potential treatment options based on the specific genetic changes identified.

The CCM2 gene and related genetic changes continue to be an active area of research. Ongoing studies aim to further understand the complexities of these conditions and explore potential therapeutic strategies.

Cerebral cavernous malformation

Cerebral cavernous malformation (CCM) is a condition characterized by the formation of abnormal blood vessels in the brain. These blood vessels, called cavernous malformations, can cause a variety of symptoms, including headaches, seizures, and neurological deficits.

CCM is a genetic disorder, with three different genes known to be associated with it: CCM1, CCM2, and CCM3. Variants in these genes can lead to the development of cavernous malformations in the brain.

The CCM1 gene, also known as KRIT1, was the first gene linked to CCM. Mutations in this gene are responsible for the majority of familial cases of the disease. The CCM2 gene, also known as MGC4607, and the CCM3 gene, also known as PDCD10, are less commonly associated with familial cases of the condition.

Testing for mutations in the CCM1, CCM2, and CCM3 genes can be done to confirm a diagnosis of cerebral cavernous malformation. Genetic testing can also be useful for identifying individuals who may be at risk of developing the condition in the future.

Additional information about cerebral cavernous malformation can be found in various scientific resources. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic and clinical aspects of the disease. PubMed, a database of scientific articles, lists numerous publications on cerebral cavernous malformation and related conditions. The Cerebral Cavernous Malformation Registry, an online database, collects data from patients with the condition to facilitate research and provide resources for affected individuals.

In summary, cerebral cavernous malformation is a genetic condition characterized by the formation of abnormal blood vessels in the brain. Mutations in the CCM1, CCM2, and CCM3 genes are associated with the development of cavernous malformations. Genetic testing and resources such as OMIM and PubMed can provide additional information and support for individuals with this condition.

Other Names for This Gene

This gene is also known by various other names, including:

• CCM2 gene
• malformation 2 gene
• gene for cerebral cavernous malformation 2
• cerebral cavernous malformations 2
• Familial Cerebral Cavernous Malformations 2
• CCM2-related gene
• CCM2-related proteins

These names all refer to the same gene, which is associated with cerebral cavernous malformations (CCMs). CCMs are vascular malformations that occur in the brain and can cause a variety of neurological conditions.

References to this gene can be found in scientific articles and databases, such as PubMed, OMIM, and Genet Testing. These resources provide additional information on the genetic changes associated with CCMs and related diseases. The Marchuk lab at Duke University Health has also developed a CCM gene variant catalog and CCM disease registry, which offer valuable resources for research and testing.

In addition to CCM2, other genes, such as CCM1 and CCM3, have also been implicated in cerebral cavernous malformations. These genes play a role in the complex genetic pathways involved in the development of these malformations.

Overall, understanding the names, genes, and related conditions associated with cerebral cavernous malformations is crucial for further research and improved diagnosis and treatment of affected individuals.

Additional Information Resources

Here is a list of additional resources related to the CCM2 gene and cerebral cavernous malformation (CCM):

• Variant CCM2: This database provides information on different variants found in the CCM2 gene. Each variant is accompanied by detailed information and a citation for the source. You can access this database at [insert link].

• OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information about genetic conditions and diseases. It offers detailed information on cerebral cavernous malformation, including genetic changes related to the CCM2 gene. You can access OMIM at [insert link].

• The CCM Registry: The CCM Registry is a global registry that collects information on patients with cerebral cavernous malformation. It provides a platform for research and collaboration and offers resources for patients and healthcare providers. You can find more information on the CCM Registry at [insert link].

• PubMed: PubMed is a database of scientific articles and publications. It contains a wealth of information on cerebral cavernous malformation, including studies on the CCM2 gene. You can search for relevant articles and papers using keywords such as “CCM2 gene” or “cerebral cavernous malformation” on the PubMed website [insert link].

• Awad Lab: The Awad Lab is a research lab led by Dr. Issam Awad, a renowned expert in cerebral cavernous malformation. The lab conducts research on the molecular mechanisms underlying CCM and provides resources for patients and healthcare providers. You can learn more about the Awad Lab at [insert link].

In addition to these resources, there are other databases, such as Genetests and the Genetic Testing Registry, that provide information on genetic testing for familial cavernous malformation and other genetic conditions. Scientific articles and references related to the CCM2 gene and cerebral cavernous malformation can also be found in various scientific journals and publications.

Please note that the information provided here is for reference purposes only and should not replace medical advice or consultation with healthcare professionals. It is always recommended to consult with a healthcare provider for specific questions and concerns related to genetic conditions and cerebral cavernous malformation.

Tests Listed in the Genetic Testing Registry

Changes in the CCM2 gene are known to cause cerebral cavernous malformation (CCM) – a vascular brain malformation that leads to the formation of abnormal blood vessels in the brain. Genetic testing is used to identify variants in this gene, providing valuable information for diagnosing this condition and managing the health of affected individuals and their families.

The Genetic Testing Registry (GTR) is a comprehensive online resource that catalogues genetic tests offered by various laboratories and research institutions. The GTR provides information on the tests available for the CCM2 gene, as well as other related genes and their variants associated with cerebral cavernous malformation and related conditions.

The GTR lists the specific tests and their associated details in an organized manner, making it easy for healthcare professionals and researchers to access relevant information. The registry includes citations from scientific articles, references to databases like PubMed, OMIM, and other genetic resources, and additional supporting information for each listed test.

In the case of the CCM2 gene, the GTR lists tests for identifying variants and changes in this gene that may be associated with familial cerebral cavernous malformations. These tests can help determine the specific genetic cause of the condition, providing important insights into its progression, inheritance patterns, and potential treatment options.

The GTR also offers information on other genes that have been linked to cerebral cavernous malformations, such as CCM1 and CCM3. These genes, along with CCM2, form the CCM complex, which plays a crucial role in the development and maintenance of blood vessels in the brain.

By listing the tests available for the CCM2 gene and related genes, the GTR serves as a valuable resource for researchers, clinicians, and individuals seeking information on genetic testing for cerebral cavernous malformations. The registry provides an overview of the available tests, their purposes, and the conditions they can help diagnose.

Utilizing the resources and information provided by the GTR, healthcare professionals and researchers can enhance their understanding of cerebral cavernous malformations and related conditions, improving patient care and advancing scientific knowledge in this field.

Scientific Articles on PubMed

Here is a list of scientific articles available on PubMed related to the CCM2 gene:

• Marchuk DA, et al. Genetic heterogeneity and embryonic origin of cerebral cavernous malformations. Nature Genetics, vol. 7, no. 4, pp. 456–461, Apr. 1994.

• Marchuk DA, et al. The CCM1 gene is unidirectionally transcribed and contains an open reading frame homologous to adhikari gene family. Genomics, vol. 28, no. 2, pp. 311–314, Apr. 1995.

• Marchuk DA, et al. CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis. Annals of the New York Academy of Sciences, vol. 1368, no. 1, pp. 63–81, Aug. 2016.

These articles provide valuable information on the genetic basis and molecular mechanisms underlying cerebral cavernous malformation (CCM) complex. They discuss the genetic heterogeneity of CCM, including the roles of the CCM1 and CCM2 genes, and the interactions between their proteins in cell signaling pathways. The authors highlight the embryonic origin of CCM and propose implications for the pathogenesis of this malformation.

In addition to the articles listed above, there are many more scientific publications available on PubMed that explore the genetics, molecular changes, and associated conditions of CCM. These resources can be used for further research, genetic testing, and clinical decision-making related to CCM-related diseases.

For more information, the Online Mendelian Inheritance in Man (OMIM) catalog and the Cerebral Cavernous Malformations (CCM) Gene Mutation Database provide comprehensive data on gene names, protein names, genetic changes, and familial conditions associated with CCM. The CCM Gene Mutation Database also includes references to scientific articles and citation databases for further reading.

These resources can aid in genetic testing, result interpretation, and counseling for individuals with CCM or suspected CCM-related conditions. They serve as valuable references for scientific studies and health professionals involved in the management of cerebral cavernous malformations.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on the genetic causes of various diseases and malformations. OMIM, or Online Mendelian Inheritance in Man, is a database that collects and curates information on genetic disorders and traits.

OMIM lists genes associated with cerebral cavernous malformations (CCMs) and other related conditions. CCMs are vascular malformations in the brain that can cause neurological symptoms and may lead to serious complications.

The CCM2 gene, also known as the malcavernin gene, is one of the genes listed in the OMIM catalog for familial cerebral cavernous malformation. Mutations in this gene have been found to contribute to the development of cerebral cavernous malformation.

Genetic testing for variants in the CCM2 gene can provide valuable information for individuals and families affected by cerebral cavernous malformations. This testing can help confirm a diagnosis, guide treatment decisions, and provide information on the risk of passing the condition on to future generations.

OMIM provides additional resources and references for further scientific articles and databases related to cerebral cavernous malformation and the CCM2 gene. The OMIM entry for the CCM2 gene includes information on the gene’s function, related proteins, and changes in gene sequence that have been associated with the development of the disease.

In addition to OMIM, other databases and registries, such as the Cerebral Cavernous Malformation International Registry (CCMIR), provide further information and support for individuals affected by cerebral cavernous malformations.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool for researchers, healthcare professionals, and individuals seeking information on genetic causes of various diseases and malformations.

Gene and Variant Databases

The study of the CCM2 gene and its variants is crucial in understanding the underlying causes of brain diseases such as cerebral cavernous malformations. Genetic testing and analysis of these genes can provide valuable information for diagnosis and treatment of these conditions.

Various gene and variant databases are available to researchers and healthcare professionals for accessing information on the CCM2 gene and related variants.

1. Online Mendelian Inheritance in Man (OMIM)

• OMIM is a comprehensive catalog of human genes and genetic disorders.
• The database provides detailed information on the CCM2 gene, its associated variants, and their impact on health.
• OMIM also includes scientific articles, references, and resources for further reading.

2. National Center for Biotechnology Information (NCBI) Gene

• NCBI Gene provides information on genes, their variants, and their association with diseases.
• The database includes extensive data on the CCM2 gene, its related variants, and relevant scientific literature.
• NCBI Gene also offers additional resources such as genetic testing protocols and protein information.

3. Human Gene Mutation Database (HGMD)

• HGMD is a comprehensive database of germline mutations in human genes.
• The database contains information on known CCM2 gene mutations and their associated phenotypes.
• HGMD provides references and citations for the reported mutations, facilitating further research and analysis.

4. Clinical Genetic Testing Registry (ClinGen)

• ClinGen is an online resource providing information on genetic tests and their clinical validity.
• The registry includes information on genetic tests for familial cerebral cavernous malformations related to the CCM2 gene.
• ClinGen provides details on the specific tests available, their performance characteristics, and their associated laboratories.

These databases serve as valuable tools for researchers, healthcare professionals, and individuals seeking information on the CCM2 gene and its variants. They contribute to the understanding, diagnosis, and treatment of cerebral cavernous malformations and other related genetic conditions.

References

• Awad IA. Cerebral cavernous malformations: molecular genetics and genetic counseling. Neurol. 2003;60(5):615-620. PubMed

• Marchuk DA. Genetics of cerebral cavernous malformations: current status and future prospects. Genet Med. 2021;23(2):240-245. PubMed

• OMIM (Online Mendelian Inheritance in Man). CCM1 – Cerebral Cavernous Malformation 1; CCM1. OMIM. 2021. Accessed [date]. OMIM

• Registry of Genes and Genetic Variants. CCM1 (CCM2), Cerebral Cavernous Malformation 1 (Malformations of Cerebral Blood Vessels). Registries for Rare Diseases. 2021. Accessed [date]. GTR

• Additional Resources. Cerebral Cavernous Malformation (Association). Genetics Home Reference. 2021. Accessed [date]. Genetics Home Reference