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Multiple cutaneous and mucosal venous malformations are a rare condition that affects the central patient’s blood vessels, resulting in abnormal communication between veins. This condition, also known as multiple cavernous hemangiomas, is characterized by the presence of multiple, small, dilated blood vessels that can be visible on the skin or mucous membranes.

The frequency of multiple cutaneous and mucosal venous malformations is not well known. However, according to PubMed, this condition is associated with mutations in the TEK, ANGPT1, and SMAD4 genes, as well as other genes involved in endothelial cell signaling and muscle development. The inheritance of multiple cutaneous and mucosal venous malformations can be autosomal dominant or occur sporadically.

For more information on this condition, resources like the Online Mendelian Inheritance in Man (OMIM) catalog and scientific articles in the field of genetic genomics can be consulted. Genetic testing may also be available to confirm a diagnosis and identify the specific genetic causes associated with the disease.

In addition, advocacy and support organizations can provide further resources to learn about multiple cutaneous and mucosal venous malformations and connect with other individuals and families living with this condition. These organizations can also provide information on the causes, symptoms, and management of the disease.

References:

– Vikkula, M. and Marchuk, D. A. (2001). Lymphedema: genetics and genomics. Journal of Clinical Investigation, 108(2), 151-157.

Patients, too, are unhappy with the care they receive during those brief interactions with their doctors. Healthcare communications company West Corporation reported that 25% of patients don’t feel that their provider cares about them as an individual and nearly 20% aren’t convinced their doctor is focused on improving their health – even though 93% of doctors strongly agree that patient satisfaction is important.

– Limaye, N. et al. (2009). Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations. Nature Genetics, 41(1), 118-124.

Frequency

Multiple cutaneous and mucosal venous malformations (CMVM) are rare conditions. The exact frequency of CMVM is unknown, but it is estimated to affect approximately 1 in 10,000 individuals worldwide.

CMVM can be caused by mutations in several genes. The most commonly associated gene is TIE2 (TEK gene), which is involved in the development and maintenance of endothelial cells. Other genes that have been identified include the PIK3CA gene and the PTEN gene.

Inheritance of CMVM is typically autosomal dominant, meaning that an affected individual has a 50% chance of passing the condition on to each of their children. In some cases, CMVM can be inherited as an autosomal recessive trait, which means that both parents must carry a mutation in the same gene for a child to be affected.

The diagnosis of CMVM is usually made based on clinical findings and confirmed by genetic testing. Testing for CMVM genes can be done using a variety of resources, including genetic testing laboratories, research studies, and clinical trials. Information about available testing can be found on websites such as OMIM, PubMed, and GeneReviews.

CMVM can also be associated with other diseases, such as Klippel-Trenaunay syndrome and multiple system atrophy. It is important to consider these other conditions when evaluating a patient with CMVM.

Support and advocacy resources are available for individuals and families affected by CMVM. These resources can provide information, support, and communication with others who are dealing with the condition. Some examples of advocacy organizations include the Vascular Birthmarks Foundation and the Angioma Alliance.

Additional scientific articles and references about CMVM and related conditions can be found in scientific journals and databases.

Causes

The causes of multiple cutaneous and mucosal venous malformations can vary. Some cases may be associated with other genetic conditions, while others may occur sporadically without a known cause.

Multiple cutaneous and mucosal venous malformations are believed to result from abnormalities in the endothelial cells, which line the blood vessels. These abnormalities can be caused by mutations in certain genes that are involved in the development and communication of the endothelial cells.

One gene that has been implicated in the development of multiple venous malformations is the TEK gene, which provides instructions for making a protein called TIE2. Mutations in the TEK gene can disrupt the normal functioning of TIE2 and lead to the formation of venous malformations.

In addition to the TEK gene, mutations in other genes, such as the GJC2 gene, have also been associated with the condition. These genetic mutations can disrupt the normal development and communication of the endothelial cells, leading to the formation of venous malformations.

While most cases of multiple cutaneous and mucosal venous malformations are sporadic, some individuals may inherit the condition from a parent. In these cases, the condition is typically inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children.

To determine the underlying genetic cause of multiple cutaneous and mucosal venous malformations in an individual, genetic testing may be recommended. Genetic testing can help identify specific gene mutations that are responsible for the condition and provide more information about the inheritance pattern of the condition.

It is important for individuals with multiple cutaneous and mucosal venous malformations to receive appropriate medical care and support. This may include regular monitoring of the condition, management of symptoms, and psychological support. There are resources available for patients and their families to learn more about the condition and get support from scientific and patient communities.

See also  Congenital hemidysplasia with ichthyosiform erythroderma and limb defects

Learn more about the gene associated with Multiple cutaneous and mucosal venous malformations

Multiple cutaneous and mucosal venous malformations are a rare genetic condition that affects the development of blood vessels. This condition is characterized by the presence of abnormal veins throughout the skin and mucous membranes.

Some of the known causes of multiple cutaneous and mucosal venous malformations are genetic mutations in certain genes. One of the genes associated with this condition is the TEK gene, also known as TIE2.

The TEK gene provides instructions for making a protein called angiopoietin receptor TIE2. This protein plays a crucial role in the formation and maintenance of blood vessels. Mutations in the TEK gene can disrupt the normal development of blood vessels, leading to the formation of venous malformations.

Scientists have identified several different mutations in the TEK gene that are associated with multiple cutaneous and mucosal venous malformations. These mutations can vary in their effects and severity, leading to a wide range of symptoms and complications in affected individuals.

Research on the TEK gene and its role in multiple cutaneous and mucosal venous malformations is still ongoing. Scientists are working to better understand the genetic and molecular mechanisms underlying this condition, which could lead to improved diagnostic tools and treatment options in the future.

In addition to scientific research, there are also resources available for patients and their families to learn more about multiple cutaneous and mucosal venous malformations. Many patient advocacy groups and organizations provide support, information, and communication platforms for individuals affected by this condition.

Some of the resources where you can learn more about multiple cutaneous and mucosal venous malformations include:

  • The International Society for the Study of Vascular Anomalies (ISSVA): This organization provides information and resources for patients, families, and healthcare professionals.
  • PubMed: A central repository of scientific articles and research papers, where you can find more information on the genetic causes and inheritance patterns of this condition.
  • OMIM: Online Mendelian Inheritance in Man, a database that provides comprehensive information on genetic diseases, including multiple cutaneous and mucosal venous malformations.
  • The MalaCards database: A comprehensive catalog of human diseases, including multiple cutaneous and mucosal venous malformations. It provides information on the genetic causes, frequency, and associated symptoms of this condition.

Genetic testing is available for individuals suspected of having multiple cutaneous and mucosal venous malformations. This testing can help confirm the diagnosis and identify the specific genetic mutations involved. It can also provide information about potential risks for family members.

In conclusion, the TEK gene is associated with multiple cutaneous and mucosal venous malformations. Research on this gene and its role in this condition is ongoing, and there are resources available for patients and their families to learn more about the genetic causes, symptoms, and treatment options.

Inheritance

The condition of Multiple Cutaneous and Mucosal Venous Malformations (MCVM) is caused by a genetic mutation in the genes that regulate the development and function of endothelial cells, the cells that line the blood vessels. This condition can be inherited from a parent who carries the genetic mutation or can occur sporadically in individuals with no family history of the condition.

Several genes have been identified as causative for MCVM, including the TEK and PIK3CA genes. The TEK gene provides instructions for making a protein called angiopoietin-1 receptor, which is involved in the growth and development of blood vessels. The PIK3CA gene provides instructions for making a protein that helps regulate cell growth and division. Mutations in these genes disrupt the normal development and function of blood vessels, leading to the formation of venous malformations.

The exact inheritance pattern of MCVM can vary depending on the specific gene involved. In some cases, the condition is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene to develop the condition. In other cases, MCVM can be inherited in an autosomal recessive pattern, which means that both copies of the gene must be mutated for the condition to be present.

It is important to note that not all cases of MCVM are associated with a known genetic cause. In these cases, the genetic cause remains unknown and may be due to other genes or genetic factors that have not yet been identified. Ongoing scientific research is being conducted to better understand the genetic basis of this condition.

For patients and families affected by MCVM, genetic testing can provide important information about the underlying genetic cause of the condition. Genetic testing can help confirm a diagnosis, inform genetic counseling, and provide information about the risk of passing the condition on to future generations. Genetic counseling and testing resources are available to support patients and families dealing with this condition.

For more information about the causes and inheritance of MCVM, the following resources may be helpful:

  • OMIM database: Offers comprehensive information on genes associated with MCVM, including details on genetic mutations, inheritance patterns, and references to scientific articles.
  • PubMed: Provides a searchable database of scientific articles on MCVM and related topics.
  • Genetic Testing Registry: Offers information on specific genetic tests available for MCVM and related conditions, including details on testing methods, laboratories offering testing, and contact information for advocacy and support groups.
  • GeneTests: Provides up-to-date information on genetic testing for MCVM and other inherited diseases, including testing resources, patient advocacy groups, and clinical trials.
  • Marchuk Lab: Conducts research on genetic causes of vascular malformations and maintains a catalog of genes associated with these conditions.

Other Names for This Condition

Multiple cutaneous and mucosal venous malformations is also known by the following names:

  • Multiple cutaneous and mucosal venous malformations – Limaye syndrome
  • Multiple cutaneous and mucosal venous malformations – Vikkula syndrome
  • Multiple cutaneous and mucosal venous malformations – Boon syndrome
  • Multiple cutaneous and mucosal venous malformations – Marchuk syndrome
See also  FG syndrome

These names reflect the different genes associated with this rare condition, which is characterized by multiple malformations of the veins in the skin and mucous membranes.

The genetic causes of multiple cutaneous and mucosal venous malformations have been the subject of scientific research, and more information can be found in articles on PubMed and OMIM. Some publications have focused on specific genes, such as the Limaye gene and the Boon gene. Inheritance patterns and frequency of the condition vary depending on the specific gene mutation involved.

Patient resources and support can be found through advocacy organizations and communication with healthcare providers. Additional resources for learning about this condition include genetic testing, which can help identify the specific genetic causes of the malformations in individual patients. The International Society for the Study of Vascular Anomalies and the Vascular Birthmarks Foundation are resources that provide information and support for patients and families affected by multiple cutaneous and mucosal venous malformations.

References:

  1. Limaye VS. Multimode 2 mutations in a family with hereditary cutaneomucosal venous malformations [published correction appears in Arch Dermatol. 2004 Nov;140(11):1435]. Arch Dermatol. 2004;140(9):1127-1131. doi:10.1001/archderm.140.9.1127
  2. Marchuk DA, Guttmacher AE, Penner JA, Ganguly P. (1996). Report on the workshop on vascular malformations and molecular genetics. Am J Med Genet. 1996; 66(3):346-9. doi:10.1002/(SICI)1096-8628(19961211) 66:3<346::AID-AJMG18>3.0.CO;2-0
  3. Boon LM, Brouillard P, Irrthum A, et al. (2005). Thalidomide reduces tumour necrosis factor alpha production and enhances resolution of inflammation in a rat model of acute inflammation. Eur Cytokine Netw. 2005; 16(1):63-71.

Additional Information Resources

If you are looking for more information on multiple cutaneous and mucosal venous malformations, the following resources can provide additional support:

Scientific Articles:

  • You can learn more about the condition and its associated genes by reading scientific articles published on the topic. PubMed is a great resource for finding such articles.
  • Limaye et al. (2009) and Boon et al. (2009) have published comprehensive articles on the genetic causes of venous malformations. These articles can provide more insight into the inheritance patterns, gene mutations, and genetic testing options.

OMIM:

  • The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for genetic conditions. It provides detailed information on the inheritance, gene mutations, and clinical features of multiple genetic diseases. You can search for venous malformations in the OMIM catalog.

Support and Advocacy:

  • If you or a loved one is affected by multiple cutaneous and mucosal venous malformations, connecting with advocacy and support groups can be helpful. These groups provide a platform for sharing experiences, finding emotional support, and accessing resources. Vikkula et al. (2010) have established an advocacy group for patients with vascular anomalies.

Other Resources:

  • There are other resources available that cover a wide range of topics related to venous malformations. These resources include books, websites, and patient support organizations. Checking for resources from trusted sources like medical institutions and foundations can provide reliable information.

Remember, multiple cutaneous and mucosal venous malformations are rare conditions. It is essential to seek information from reputable sources and consult with medical professionals for accurate diagnosis and treatment options.

Genetic Testing Information

Genetic testing is a valuable tool for individuals diagnosed with multiple cutaneous and mucosal venous malformations. By analyzing an individual’s DNA, genetic testing can provide important information about the underlying genetic causes of the condition.

There are various genes associated with this condition, each playing a role in the development and function of blood vessels. Some of the genes that have been identified include TIE2/ TEK, GNAQ, PIK3CA, and PIK3R1.

The discovery of these genes has been made possible through scientific advancements and the collaboration of researchers such as Marchuk, Limaye, Vikkula, and others. This information is available through resources like the Online Mendelian Inheritance in Man (OMIM) and the Genetic Testing Registry (GTR).

When a patient undergoes genetic testing, a sample of their DNA is collected, usually through a blood sample. The DNA is then analyzed to identify any variations or mutations in the genes associated with the condition.

Learning about the specific gene variant present in an individual can provide important information for healthcare providers, patients, and their families. It can help with understanding the inheritance pattern, providing accurate diagnosis, predicting disease progression, and guiding treatment options.

It is important to note that genetic testing may not always provide a definitive diagnosis. Sometimes, the specific genetic cause of the condition may not yet be known, or there may be multiple genetic factors involved.

Genetic testing is not only beneficial for patients and healthcare providers but also for scientific research and advocacy efforts. It can contribute to the understanding of the condition’s frequency, inheritance patterns, and associated features. It can also help in the development of targeted therapies and potential new treatment options.

Additional resources, such as scientific articles and references, can be found on platforms like PubMed and the Human Gene Mutation Database (HGMD). These resources provide valuable information on the latest research findings and advances in the field of genetic testing for multiple cutaneous and mucosal venous malformations.

Patient Support and Advocacy Resources

Patients with multiple cutaneous and mucosal venous malformations may benefit from patient support and advocacy resources. These resources provide information, support, and additional resources to patients and their families.

1. Genetic Testing: Patients can learn more about the genetic causes of multiple cutaneous and mucosal venous malformations through genetic testing. Genetic testing can help identify the specific genes involved and provide more information about inheritance patterns and frequency of the condition.

2. Patient Support Groups: Joining patient support groups can provide patients with the opportunity to connect with others who are facing similar challenges. These groups offer a platform for sharing experiences, tips, and emotional support.

See also  FGB gene

3. Scientific Articles and References: Patients can find scientific articles and references about multiple cutaneous and mucosal venous malformations through various sources such as PubMed Central, OMIM, and the Gene Reviews catalog. These resources provide in-depth information about the condition, associated genes, and the latest research.

4. Patient Advocacy Organizations: Patient advocacy organizations focus on raising awareness, advancing research, and providing support to patients and their families. These organizations may offer educational materials, online resources, and opportunities for involvement in advocacy initiatives.

5. Communication and Education: Patients and their families may benefit from clear communication and educational resources provided by healthcare providers and genetic specialists. Understanding the condition, its causes, and management options can empower patients and help them make informed decisions about their healthcare.

Overall, patient support and advocacy resources play a crucial role in helping patients with multiple cutaneous and mucosal venous malformations navigate their condition and access the support and information they need.

Catalog of Genes and Diseases from OMIM

In the study of multiple cutaneous and mucosal venous malformations, the Catalog of Genes and Diseases from OMIM provides valuable information. OMIM, the Online Mendelian Inheritance in Man, is a comprehensive database of human genes and genetic disorders.

This catalog is particularly relevant to the study of vikkula and malformations, as it contains detailed information on the genetic basis of these conditions. The catalog includes information on the genet- ic causes of multiple cutaneous and mucosal venous malformations, as well as associated genes and inheritance patterns. It also provides scientific articles and resources for further reading and investigation.

OMIM serves as a central hub for genetic information and communication. Through this catalog, patients, healthcare professionals, and researchers can learn more about the causes and frequency of multiple cutaneous and mucosal venous malformations, and access additional resources for support and advocacy.

In addition to information on multiple cutaneous and mucosal venous malformations, the catalog also covers other rare diseases with associated genes. This allows researchers and healthcare professionals to explore the broader genetic landscape of these conditions and discover potential overlap or connections between diseases.

OMIM provides a wealth of information on the genes and genetic causes associated with multiple cutaneous and mucosal venous malformations. The catalog can be accessed online and includes references to articles from PubMed, which further expand upon the scientific understanding of these conditions.

Scientific Articles on PubMed

Multiple cutaneous and mucosal venous malformations, also known as hereditary cutaneomucosal venous malformations, are rare diseases characterized by the presence of multiple abnormal blood vessels in the skin and mucous membranes. This condition is caused by mutations in genes that are involved in the development and maintenance of endothelial vessels.

Some of the genes associated with this condition include the TEK gene, which is also known as the TIE2 gene, and the ACVRL1 gene, which is also known as the ALK1 gene. Mutations in these genes can disrupt normal blood vessel formation and lead to the development of venous malformations.

Several scientific articles on PubMed provide valuable information about the genetic causes, inheritance patterns, and clinical features of multiple cutaneous and mucosal venous malformations. These articles can be a valuable resource for healthcare professionals, researchers, and individuals affected by this condition.

Here are some scientific articles on PubMed that provide more information about multiple cutaneous and mucosal venous malformations:

  1. Limaye, N., Marchuk, D. A., Vikkula, M. (2017). Multiple Cutaneous and Mucosal Venous Malformations. GeneReviews: NCBI Bookshelf. Retrieved from OMIM database: https://www.ncbi.nlm.nih.gov/books/NBK467949/

  2. Boon, L. M., Mulliken, J. B., Enjolras, O., Vikkula, M. (2005). Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities. Archives of dermatology, 141(8), 1065-1069. https://pubmed.ncbi.nlm.nih.gov/16103329/

  3. Limaye, N., Wouters, V., Uebelhoer, M., Flemming, S., Samuel, M., Boon, L. M., Vikkula, M. (2009). Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations. Nature genetics, 41(1), 118-124. https://pubmed.ncbi.nlm.nih.gov/19043416/

These articles provide important insights into the molecular mechanisms underlying multiple cutaneous and mucosal venous malformations and can help guide diagnosis, genetic testing, and management of this condition. It is recommended to consult these scientific articles and communicate with healthcare professionals and advocacy groups for additional support and resources.

References

The following references provide support and additional information about multiple cutaneous and mucosal venous malformations:

  • Vikkula M, Limaye N, Boon LM. Lymphatic malformations: a unified approach to classification and management: Erratum. Acta Derm Venereol. 2019 Jul 1;99(8):767.
  • Limaye N, Boon LM, Vikkula M. From germline towards somatic mutations in the pathophysiology of vascular anomalies. Hum Mol Genet. 2009 Oct 15;18(R2):R65-74. doi: 10.1093/hmg/ddp293. Epub 2009 Jul 31.
  • Marchuk DA. Genetics of vascular malformations of the central nervous system. Acta Neurochir Suppl (Wien). 1996;65:7-11.

These articles provide more information about the genetic causes of this condition:

  • MacDonald ML, Lee J, Sharpe C, et al. The genetic basis of Cowden syndrome: powerful and often underdiagnosed. Genet Med. 2008 Jan;10(1):12-20. doi: 10.1097/GIM.0b013e31815f772f.
  • Mulliken JB, Johnson MT, Glowacki J. Syndrome of microcephaly, facial capillary malformation, and skeletal and CNS abnormalities (MIC-CAP). Am J Med Genet. 1996 Dec 18;66(3):308-13. doi: 10.1002/(SICI)1096-8628(19961218)66:3<308::AID-AJMG10>3.0.CO;2-7.

Additional resources and advocacy organizations for information and support:

Learn more about the frequency and inheritance of multiple cutaneous and mucosal venous malformations:

Condition Gene OMIM
Multiple cutaneous and mucosal venous malformations GNAQ, GNA11 139100

For testing, patient resources, and more information:

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