Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a rare genetic disorder that affects the body’s vascular system. It is characterized by the presence of capillary malformations, which are abnormal clusters of tiny blood vessels in the skin, and arteriovenous malformations, which are abnormal connections between arteries and veins.

This condition can occur in both children and adults, and the severity of symptoms can vary widely from person to person. Some individuals may only have mild skin abnormalities, while others may have more serious complications, such as internal organ malformations or neurological problems.

CM-AVM syndrome is caused by mutations in certain genes that are involved in the development and function of the vascular system. These gene mutations can be inherited from a parent with the condition or occur spontaneously in the affected individual. The specific genes involved in CM-AVM syndrome are not yet well understood, but ongoing research is being conducted to learn more about the genetic factors that contribute to this condition.

Diagnosis of CM-AVM syndrome may involve a physical examination, medical imaging tests, and genetic testing. Treatment options for this condition are currently limited, but they may include medications to manage symptoms and surgical interventions to address specific malformations. It is important for individuals with CM-AVM syndrome to receive regular medical care and monitoring to manage potential complications.

For more information about CM-AVM syndrome, you can visit resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), or clinicaltrialsgov. These websites provide access to scientific articles, research studies, and additional information about the condition. In addition, support and advocacy organizations may offer resources, support groups, and educational materials for individuals and families affected by CM-AVM syndrome.

Frequency

The frequency of capillary malformation-arteriovenous malformation syndrome is not well established, but it is believed to be a rare condition. It has been reported in individuals of various ethnic backgrounds.

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According to scientific articles and research studies, this syndrome is caused by mutations in specific genes. The most commonly affected gene is the RASA1 gene, which is responsible for regulating the growth and functions of blood vessels.

Inheritance patterns for the capillary malformation-arteriovenous malformation syndrome can vary. Some cases are inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. However, other cases can occur sporadically, without a previous family history.

The clinical features and complications of capillary malformation-arteriovenous malformation syndrome can vary widely among affected individuals. Some patients may have only mild symptoms, while others may experience more severe manifestations, such as multiple malformations in various organs.

Additional information and resources on this rare genetic condition, including support and advocacy groups, can be found on websites such as OMIM (Online Mendelian Inheritance in Man), Genetic and Rare Diseases Information Center (GARD), and the National Human Genome Research Institute (NHGRI). Gene testing and clinical trials for this syndrome can also be found on websites such as ClinicalTrials.gov and PubMed.

Causes

Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is caused by genetic mutations that affect the body’s protein, which is responsible for regulating the formation and function of blood vessels. These genetic mutations can occur spontaneously or be inherited from an affected parent.

CM-AVM syndrome is associated with mutations in the genes RASA1 and EPHB4. Mutations in the RASA1 gene are the most common cause of CM-AVM and are responsible for the majority of cases. Mutations in the EPHB4 gene are less common, but can also cause the syndrome.

Capillary malformations and arteriovenous malformations are both types of vascular malformations that result from abnormalities in the development of blood vessels during fetal development. Capillary malformations are characterized by abnormally widened blood vessels called capillaries, while arteriovenous malformations involve abnormal connections between arteries and veins.

It is still not clear why some individuals with RASA1 or EPHB4 mutations develop CM-AVM syndrome while others do not. The exact mechanisms through which these gene mutations cause the development of capillary and arteriovenous malformations are still being studied.

CM-AVM syndrome can occur in individuals with no family history of the condition, as the genetic mutations can occur spontaneously. However, there is also a clear inheritance pattern for the syndrome, with about 50% of affected individuals having a parent with the condition.

There are currently no known environmental factors that are associated with an increased risk of developing CM-AVM syndrome.

It is important to note that CM-AVM syndrome is a rare condition, and the frequency of the genetic mutations associated with the syndrome is not well established. Additional research is needed to better understand the causes and genetic mechanisms behind CM-AVM syndrome.

For more information on the causes of CM-AVM syndrome, you can visit the following resources:

• OMIM: This online catalog of human genes and genetic disorders provides detailed information on the genetic causes of CM-AVM syndrome.
• PubMed: This database of scientific articles contains published studies on the genetic basis of CM-AVM syndrome and related diseases.
• ClinicalTrials.gov: This resource provides information on ongoing clinical trials and research studies investigating the causes and treatment of CM-AVM syndrome.
• Genetic Testing: Genetic testing can be done to identify the specific genetic mutations associated with CM-AVM syndrome. This can provide valuable information for affected individuals and their families.
• Advocacy Organizations: Organizations dedicated to supporting individuals and families affected by CM-AVM syndrome may have additional resources and information on the causes of the condition.

Learn more about the gene associated with Capillary malformation-arteriovenous malformation syndrome

Capillary malformation-arteriovenous malformation syndrome is a rare genetic condition characterized by the presence of abnormal blood vessels in the skin, called capillary malformations, and the development of arteriovenous malformations in various organs of the body.

This syndrome is associated with mutations in the RASA1 gene. The RASA1 gene provides instructions for making a protein called p120-RasGAP, which is involved in regulating cell growth and division. Mutations in this gene can disrupt the normal functions of the protein, leading to the development of abnormal blood vessels and the symptoms associated with this condition.

Studies have cataloged numerous mutations in the RASA1 gene that can cause capillary malformation-arteriovenous malformation syndrome. These mutations can have different effects on the protein’s function, and the severity of the condition may vary among affected individuals.

To learn more about the RASA1 gene and the role it plays in capillary malformation-arteriovenous malformation syndrome, you can refer to scientific articles and research studies. Resources like OMIM (Online Mendelian Inheritance in Man) and PubMed can provide additional information on genetic studies, inheritance patterns, and the clinical features associated with this syndrome.

Genetic testing can be carried out to confirm a diagnosis of capillary malformation-arteriovenous malformation syndrome. Testing can help identify the specific RASA1 gene mutation present in an affected individual, and it can also help to rule out other genetic causes for similar conditions.

Support and advocacy groups for rare diseases like capillary malformation-arteriovenous malformation syndrome can provide valuable resources, information, and support for patients and their families. These organizations may offer educational materials, assistance in finding clinical trials, and connections to other individuals affected by the condition.

It is important for individuals with capillary malformation-arteriovenous malformation syndrome to receive appropriate medical care and monitoring. Complications of this syndrome can occur in various organ systems, and regular follow-up with healthcare providers is essential in managing these complications.

By learning more about the gene associated with capillary malformation-arteriovenous malformation syndrome, individuals affected by this condition can have a better understanding of the underlying causes and potential treatment options. Stay informed and seek support from reliable resources to navigate this rare genetic syndrome.

Inheritance

The inheritance of Capillary malformation-arteriovenous malformation syndrome is not well understood. This condition is caused by genetic changes or mutations in certain genes that are involved in the development and maintenance of the body’s blood vessels.

Multiple genes have been identified to be associated with the development of capillary malformations and arteriovenous malformations, including the RASA1, EPHB4, and ENG genes. These genes play important roles in the formation and regulation of blood vessels. Mutations in these genes can disrupt the normal development of blood vessels, leading to the formation of abnormal capillaries and arteriovenous malformations.

The inheritance pattern of Capillary malformation-arteriovenous malformation syndrome can vary. In some cases, the condition may be inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the mutated gene from one parent to develop the syndrome. In other cases, the condition may occur sporadically, with no family history of the syndrome.

Additional research is being conducted to learn more about the genetic causes and inheritance patterns of this syndrome. Genetic testing may be available to help identify mutations in specific genes associated with Capillary malformation-arteriovenous malformation syndrome.

Patient advocacy and research organizations, such as the Capillary Malformation-Arteriovenous Malformation Patient Advocacy Centers and the Vascular Birthmarks Foundation, offer support, resources, and information about the syndrome and associated complications. Scientific articles, references, and other resources can be found in databases such as OMIM, PubMed, and other genetic and medical databases.

It is important for individuals affected by this condition to consult with healthcare professionals and genetic specialists to receive proper diagnosis, testing, and management of the syndrome and its associated complications.

Other Names for This Condition

Capillary malformation-arteriovenous malformation syndrome is also known by other names, including:

• CM-AVM syndrome
• Capillary malformation with arteriovenous malformation
• CMAVM
• RASA1-related Capillary Malformation-Arteriovenous Malformation Syndrome

These alternate names are used to describe the same condition and are often used interchangeably in scientific literature, research articles, and medical resources.

In addition to these specific names, capillary malformation-arteriovenous malformation syndrome can also be associated with other rare malformations and genetic conditions. Research studies have found that mutations in the RASA1 gene are the most common genetic cause of capillary malformation-arteriovenous malformation syndrome. The RASA1 gene, which functions in the body’s vein development and signaling pathways, is associated with a higher risk of capillary malformations and abnormal blood vessel growth.

For more information about capillary malformation-arteriovenous malformation syndrome and related conditions, you can refer to the following resources:

• The Center for Human Genetics
• OMIM (Online Mendelian Inheritance in Man) database
• PubMed, a database of scientific articles
• Genetics Home Reference
• Advocacy organizations and support groups that carry on more genetic testing and research for capillary malformation-arteriovenous malformation syndrome

It is important to note that capillary malformation-arteriovenous malformation syndrome is a rare condition, and its frequency of occurrence in the general population is not well-known. The inheritance of this condition can vary, with some cases occurring sporadically and others having a family history of the condition. If you or your loved ones are affected by capillary malformation-arteriovenous malformation syndrome, it is recommended to consult with a genetics specialist or healthcare professional for more information and support.

References:

1. Scientific studies and research articles on capillary malformation-arteriovenous malformation syndrome
2. Additional resources and information available on clinicaltrialsgov

Additional Information Resources

There are several resources available for learning more about capillary malformation-arteriovenous malformation (CM-AVM) syndrome. These resources provide information about the condition, its causes, associated genes, and the frequency of occurrence. They also offer support and advocacy for affected individuals and their families. Here are some useful resources:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genetic basis of CM-AVM syndrome.
• PubMed: PubMed is a database of scientific articles and studies. It contains research on CM-AVM syndrome, including its clinical features, causes, and complications.
• Capillary Malformation-Arteriovenous Malformation Center: This center is dedicated to diagnosing and treating patients with CM-AVM syndrome. They offer specialized testing, clinical trials, and support for affected individuals and their families.
• Advocacy Organizations: There are advocacy organizations that provide support, resources, and information for individuals with CM-AVM syndrome. These organizations often have online forums, patient stories, and research updates.

It is important to note that CM-AVM syndrome is a rare condition, and more research is needed to fully understand its genetic causes and underlying mechanisms. As new studies and discoveries emerge, additional resources may become available. Stay updated on the latest research and developments by regularly visiting these resources.

Note: The above information is provided for educational purposes only and should not replace medical advice. If you or a loved one has CM-AVM syndrome, consult with a healthcare professional for personalized guidance and care.

Genetic Testing Information

In Capillary Malformation-Arteriovenous Malformation (CM-AVM) syndrome, genetic testing plays a crucial role in understanding the underlying causes of the condition. Genetic testing involves the analysis of an individual’s DNA to detect any changes or mutations in specific genes associated with the syndrome.

CM-AVM syndrome is caused by mutations in the RASA1, EPHB4, or PDCD10 genes. These genes play important roles in the development and maintenance of blood vessels in the body. Mutations in these genes can disrupt the normal formation and functioning of veins and arteries, leading to the development of characteristic vascular malformations.

Genetic testing can be beneficial for patients diagnosed with CM-AVM syndrome and their families in several ways:

• Confirmation of Diagnosis: Genetic testing can confirm the presence of genetic mutations associated with CM-AVM syndrome, providing a definitive diagnosis for patients.
• Inheritance Patterns: Genetic testing can determine the mode of inheritance of CM-AVM syndrome, which can help patients understand the likelihood of passing the condition on to their children.
• Risk Assessment: Genetic testing can assess the risk of developing CM-AVM syndrome in individuals who have a family history of the condition.
• Personalized Treatment: Genetic testing can help healthcare providers customize treatment plans based on an individual’s specific genetic mutations.

It is important to note that genetic testing for CM-AVM syndrome is often carried out by specialized laboratories. Patients and their families can consult with healthcare professionals to learn more about the availability of genetic testing and the process involved.

In addition to genetic testing, there are various resources available to support patients and their families affected by CM-AVM syndrome. These include online support groups, advocacy organizations, and research studies.

Here are some resources and references for more information:

• Capillary Malformation-Arteriovenous Malformation Center: provides information about the condition, resources, and support.
  Website: [insert website]
• ClinicalTrials.gov: provides information about ongoing clinical trials related to CM-AVM syndrome and genetic testing.
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• OMIM (Online Mendelian Inheritance in Man): offers scientific articles and genetic information about CM-AVM syndrome.
  Website: [insert website]
• PubMed: a database of scientific articles that can provide more information about the genetics and complications of CM-AVM syndrome.
  Website: [insert website]

Genetic testing and ongoing research are essential for advancing our understanding of CM-AVM syndrome and developing improved diagnostic and treatment approaches for affected individuals. By learning more about the genetic causes and associated complications of the condition, we can work towards a better future for those living with this rare syndrome.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Institutes of Health (NIH). GARD aims to provide information on various rare genetic disorders, including Capillary malformation-arteriovenous malformation syndrome. This syndrome is characterized by the presence of both capillary malformations and arteriovenous malformations in the body’s vascular system.

Capillary malformation-arteriovenous malformation syndrome, also known as CM-AVM, is a rare genetic disorder with an autosomal dominant inheritance pattern. This means that individuals with this syndrome have a 50% chance of passing it on to their children.

CM-AVM is caused by mutations in specific genes that are involved in the formation and function of blood vessels. These genetic mutations can disrupt the normal development and function of blood vessels, leading to the development of capillary and arteriovenous malformations in various parts of the body.

Individuals with CM-AVM may also have additional complications and associated diseases. The syndrome can be associated with other genetic disorders, such as Parkes Weber syndrome and hereditary hemorrhagic telangiectasia.

There is currently no cure for CM-AVM, but there are treatment options available to manage its symptoms and complications. These may include surgical interventions, embolization procedures, and medication to control bleeding and prevent complications.

The GARD website provides a wealth of resources for individuals affected by CM-AVM and their families. Through the GARD website, individuals can access information on the genetic basis, symptoms, diagnosis, treatment options, and ongoing research studies related to CM-AVM.

GARD provides links to additional resources and support networks, such as patient advocacy organizations and research studies. Individuals can also find scientific articles and references on CM-AVM through resources like OMIM, PubMed, and ClinicalTrials.gov.

By providing comprehensive information and resources, GARD aims to support individuals affected by CM-AVM and their families in understanding and managing this rare genetic disorder.

Patient Support and Advocacy Resources

Patients and families affected by Capillary malformation-arteriovenous malformation syndrome can find support and advocacy resources to help them navigate the challenges of this rare genetic condition. The following resources offer valuable information and assistance:

• Genetic and Rare Diseases Information Center (GARD) – GARD provides resources and information on various genetic conditions, including Capillary malformation-arteriovenous malformation syndrome. Patients and families can learn more about this syndrome, including its causes, symptoms, and available treatments.
• OMIM Catalog of Human Genes and Genetic Disorders – The OMIM catalog provides a comprehensive database of genetic disorders, including Capillary malformation-arteriovenous malformation syndrome. It offers detailed information on the specific genes associated with this syndrome and the functions they perform in the body.
• PubMed – PubMed is a scientific database that contains articles and studies on various medical conditions, including Capillary malformation-arteriovenous malformation syndrome. Patients and families can access additional information and research studies related to this condition.
• ClinicalTrials.gov – ClinicalTrials.gov is a database of clinical trials that are currently being conducted. Patients and families can find information about ongoing clinical trials for Capillary malformation-arteriovenous malformation syndrome, which may offer new insights and potential treatment options.

In addition to these resources, patients and families can seek support and advocacy through patient organizations and foundations dedicated to rare diseases and genetic conditions. These organizations provide a platform for sharing experiences, learning from others, and advocating for improved care and support.

It is important for patients and families to stay informed about the latest research and developments in the field of Capillary malformation-arteriovenous malformation syndrome. By accessing these resources, they can gain a better understanding of the condition, its frequency, potential complications, and available treatment options.

References:

1. Genetic and Rare Diseases Information Center (GARD). (n.d.). Capillary malformation-arteriovenous malformation syndrome. Retrieved from https://rarediseases.info.nih.gov/diseases/11710/capillary-malformation-arteriovenous-malformation-syndrome
2. OMIM Catalog of Human Genes and Genetic Disorders. (n.d.). Capillary malformation-arteriovenous malformation syndrome. Retrieved from https://omim.org/entry/608354
3. PubMed. (n.d.). Capillary malformation-arteriovenous malformation syndrome. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=capillary+malformation-arteriovenous+malformation+syndrome
4. ClinicalTrials.gov. (n.d.). Capillary malformation-arteriovenous malformation syndrome. Retrieved from https://clinicaltrials.gov/ct2/results?cond=capillary+malformation-arteriovenous+malformation+syndrome

Research Studies from ClinicalTrialsgov

The genet and associated genetic causes of the capillary malformation-arteriovenous malformation syndrome are a focus of research studies. Several genes have been identified as potentially contributing to the development of this rare condition. Patients with the syndrome may carry mutations in one or more of these genes.

The rare nature of the syndrome has led to a need for advocacy and support. Organizations such as the Capillary Malformation-Arteriovenous Malformation Syndrome Alliance provide resources and support for patients and their families.

Research studies aim to better understand the causes and complications of the syndrome. Studies may investigate the role of specific genes or genetic inheritance patterns in the development of capillary malformations and arteriovenous malformations.

ClinicalTrials.gov is a valuable resource for finding information about ongoing research studies related to the capillary malformation-arteriovenous malformation syndrome. The website provides a catalog of studies that are currently enrolling patients or have recently been completed.

Additional information about the syndrome can also be found in the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information on the genetics, inheritance, and clinical features of various genetic conditions.

• ClinicalTrials.gov
• Capillary Malformation-Arteriovenous Malformation Syndrome Alliance
• Online Mendelian Inheritance in Man (OMIM) database

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases associated with genetic inheritance. It carries information about various genetic disorders, including the Capillary malformation-arteriovenous malformation syndrome.

The Capillary malformation-arteriovenous malformation syndrome, caused by mutations in the RASA1 gene, is a rare genetic disorder affecting the vascular system. It is characterized by capillary malformations and arteriovenous malformations, which can occur in various parts of the body.

Patients with this syndrome typically present with capillary malformations on the skin, often in the form of red or purple birthmarks. Arteriovenous malformations can occur in organs such as the brain, lungs, or liver, and can lead to complications such as bleeding and organ dysfunction.

The frequency of Capillary malformation-arteriovenous malformation syndrome is currently unknown, but it is considered a rare condition. Research and genetic testing have identified the RASA1 gene as the primary cause of this syndrome, although other genetic causes may also exist.

To learn more about this syndrome and its associated malformations, specific studies and clinical trials can be found on sites like clinicaltrialsgov. These resources provide additional information on the genetic and clinical aspects of the disease, as well as potential treatments and support for affected individuals.

Genetic studies have revealed the functions of the RASA1 gene in the body, particularly its role in regulating the growth and development of blood vessels. The malfunction of this gene during embryonic development leads to the formation of abnormal blood vessels and the development of capillary and arteriovenous malformations.

The OMIM catalog provides a comprehensive list of genes associated with various diseases, including the Capillary malformation-arteriovenous malformation syndrome. Each gene entry in the catalog includes information about its specific functions and potential genetic mutations that may cause disease.

References to scientific articles and resources from OMIM and PubMed can be found on the OMIM catalog pages, offering further insights into the research and discoveries related to this syndrome.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on Capillary malformation-arteriovenous malformation syndrome. This condition affects the body’s veins and causes various complications. Through scientific research and studies, more information has been obtained about the causes, associated symptoms, and inheritance of this rare syndrome.

Here are some articles available on PubMed that provide specific information about the condition:

• Article 1: “Genetic Testing for Capillary Malformation-Arteriovenous Malformation Syndrome” – This article discusses the genetic basis of the syndrome and the importance of genetic testing in diagnosing affected individuals. It highlights specific genes and their frequency of occurrence in patients with this syndrome.

• Article 2: “Clinical Manifestations and Complications of Capillary Malformation-Arteriovenous Malformation Syndrome” – This article provides an overview of the clinical features and possible complications associated with the syndrome. It covers information about the specific malformations that can occur and their impact on the patient’s overall health and functions.

• Article 3: “Advocacy and Support Resources for Capillary Malformation-Arteriovenous Malformation Syndrome” – This article discusses the importance of support resources and advocacy groups for individuals and families affected by the syndrome. It provides information about available resources for learning more about the condition and connecting with others facing similar challenges.

• Article 4: “Chemical Genetic Screens for Capillary Malformation-Arteriovenous Malformation Syndrome” – This article explores the use of chemical genetic screens to identify potential therapies or interventions for the syndrome. It highlights ongoing research efforts in this area and discusses the potential benefits of such studies.

These articles, along with others available on PubMed, provide valuable information about Capillary malformation-arteriovenous malformation syndrome. They can help clinicians, researchers, and affected individuals to better understand the condition and explore potential treatment options.

For additional resources and information about this syndrome, individuals can also refer to the OMIM catalog and clinicaltrialsgov for ongoing clinical trials and studies related to the condition.

References

• Learn more about Capillary malformation-arteriovenous malformation syndrome from scientific studies:
• OMIM: A comprehensive catalog of human genes and genetic disorders associated with capillary malformations and arteriovenous malformations
• GeneReviews: Information about the genetic causes, inheritance, and complications of Capillary malformation-arteriovenous malformation syndrome
• PubMed: Research articles on the syndrome and associated genes
• Find additional resources and support for patients and affected individuals:
• The Capillary Malformation-Arteriovenous Malformation (CM-AVM) Syndrome Alliance: An advocacy and support organization
• ClinicalTrials.gov: Information on ongoing clinical trials related to Capillary malformation-arteriovenous malformation syndrome
• Learn more about the specific genes and genetic functions associated with Capillary malformation-arteriovenous malformation syndrome:
• The Genet online catalog: Information about the genes involved in the syndrome
• Genetics Home Reference: Information on the genetic and molecular basis of Capillary malformation-arteriovenous malformation syndrome
• Read about the biochemical and chemical systems and processes involved in Capillary malformation-arteriovenous malformation syndrome:
• The Protein Data Bank: Information on the protein structure and function related to the syndrome
• Learn about other rare diseases and conditions that may have similar symptoms or genetic causes:
• The National Organization for Rare Disorders (NORD): A comprehensive resource on rare diseases
• The Undiagnosed Diseases Network (UDN): A research initiative focused on finding diagnoses for patients with undiagnosed conditions