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The FOXC2 gene is a gene that plays a crucial role in the formation of the lymphatic system. It is associated with various genetic conditions, including lymphoedema-distichiasis syndrome. This gene has been listed on the Online Mendelian Inheritance in Man (OMIM) catalog, which provides information on genes and genetic diseases.

Studies on FOXC2 gene have led to significant advancements in understanding the lymphatic system and related diseases. Scientific articles and research papers on this gene can be found in PubMed, a free online database of scientific articles in the field of health and medicine.

Testing for changes or variants in the FOXC2 gene can be done through genetic testing. These tests can provide valuable information for diagnosing and managing conditions related to this gene. Additional resources and information on FOXC2 gene can be found on the OMIM catalog, PubMed, and other scientific databases.

The FOXC2 gene is just one of the many genes that play a role in lymphedema-distichiasis syndrome and other related conditions. The FOXC2 gene is part of a larger network of genes and genetic regions that are involved in the formation and regulation of the lymphatic system. Understanding the function and interactions of these genes is important for improving our knowledge and developing treatments for lymphatic disorders.

Genetic changes in the FOXC2 gene have been associated with several health conditions, including:

  • Lymphedema-distichiasis syndrome
  • Diseases of the cardiovascular system
  • Diseases of the lymphatic system

Lymphedema-distichiasis syndrome is the most well-known health condition related to genetic changes in the FOXC2 gene. This rare genetic disorder is characterized by two main features: lymphedema, which is abnormal swelling due to impaired lymphatic drainage, and distichiasis, which is the abnormal growth of eyelashes from the Meibomian gland orifices. The FOXC2 gene variant associated with this syndrome is known as MET in the Databases for Additional genetic testing resources (OMIM).

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Other health conditions related to genetic changes in the FOXC2 gene include diseases of the cardiovascular system, such as heart defects and abnormal blood vessel development. These conditions are thought to be caused by disruptions in the formation of blood vessels during embryonic development, which is regulated by the FOXC2 gene.

Diseases of the lymphatic system, such as lymphedema, can also be associated with genetic changes in the FOXC2 gene. Lymphedema refers to the swelling of body parts due to the accumulation of lymph fluid, typically in the arms or legs. These conditions can be caused by mutations in the FOXC2 gene that disrupt the normal development and function of the lymphatic system.

For more information on health conditions related to genetic changes in the FOXC2 gene, references to scientific articles, and resources for genetic testing, you can refer to the following databases and registries:

  1. PubMed – a free, searchable database of scientific articles
  2. OMIM – Online Mendelian Inheritance in Man, which provides detailed information on genetic conditions
  3. The Databases for Additional Genetic Testing resources (OMIM) – a catalog of genes and gene variants associated with various health conditions
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These resources can provide additional information on the specific genetic changes, health conditions, and testing options related to the FOXC2 gene.

Lymphedema-distichiasis syndrome

Lymphedema-distichiasis syndrome is a genetic condition characterized by the formation of lymphedema, a build-up of fluid in certain regions of the body, and the presence of distichiasis, which is the abnormal growth of eyelashes.

Genetic databases such as OMIM and PubMed are the main resources for scientific information related to this syndrome. These databases list references to articles, studies, and other cataloged information on genes, variant diseases, and conditions associated with lymphedema-distichiasis syndrome.

Additionally, there are free resources available for testing and information on this syndrome. The Lymphedema-Disitichiasis Syndrome Health Registry provides a platform for individuals and families affected by this syndrome to share their experiences and connect with others facing similar challenges.

The FOXC2 gene is the primary gene associated with lymphedema-distichiasis syndrome. Mutations or other changes in this gene can lead to the development of the syndrome. Genetic tests can be conducted to identify these changes and confirm a diagnosis.

Overall, the study and understanding of lymphedema-distichiasis syndrome rely on the collaborative use of genetic databases, scientific articles, testing resources, and support networks for affected individuals and their families.

Other Names for This Gene

  • FOXC2
  • forkhead box C2
  • lymphoedema-distichiasis syndrome
  • LD syndrome

In addition to FOXC2, this gene is also known by other names. These names include forkhead box C2, lymphoedema-distichiasis syndrome, and LD syndrome. These additional names reflect the different aspects and characteristics of the gene.

FOXC2 is listed in various genetic databases and scientific resources, including PubMed, OMIM, and the Genetic Testing Registry (GTR). These databases provide free access to information about this gene and related genes. They also provide information on diseases and conditions associated with FOXC2, such as lymphedema-distichiasis syndrome and other lymphatic system abnormalities.

Genetic testing and variant analysis can be performed to identify changes in the FOXC2 gene. These tests can help in the diagnosis and management of diseases and conditions related to this gene. The information obtained from these tests can also be used to provide genetic counseling and to develop strategies for preventive measures.

Further studies and research articles on FOXC2 and other related genes are available in scientific journals and publications. These articles provide in-depth analysis and insights into the role and mechanisms of action of FOXC2 in the development and formation of lymphatic system and related conditions.

References:

  1. Dagenais SL, et al. (2004). FOXC2 is expressed in human lymphatic and venous endothelial cells and regulates LIPC expression. Lymphology. 37(1): 25-34.
  2. FOXC2 Gene. (2021). MedlinePlus Genetics.
  3. FOXC2: forkhead box C2. (2021). NCBI Gene.

Additional Information Resources

For additional information related to the FOXC2 gene, you can refer to the following resources:

  • PubMed: Pubmed is a free scientific database that provides access to articles and references on the FOXC2 gene. It contains information on the genetic changes, conditions of formation, and other related articles.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. You can find information on lymphedema-distichiasis syndrome and other associated diseases on this database.
  • GeneTests: GeneTests is a resource for information on genetic testing, including tests for FOXC2 gene variants. It provides information on testing laboratories, available tests, and regions tested.
  • Other Scientific Databases: Apart from PubMed and OMIM, there are several other scientific databases that contain information on the FOXC2 gene and related health conditions. These databases include Genes and Diseases, GeneCards, and UniProt.

These resources provide free additional information and references related to the FOXC2 gene, lymphedema-distichiasis syndrome, and other associated diseases. They can help you understand the genetic changes, clinical features, and management options for individuals with these conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a resource that provides a searchable database of genetic tests for various conditions. It is a centralized repository of genetic tests and their associated genes, conditions, and references.

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The GTR lists various tests related to the FOXC2 gene, which is associated with the lymphoedema-distichiasis syndrome. Lymphoedema-distichiasis is a rare genetic disorder characterized by the formation of extra eyelashes and swelling in the arms or legs due to lymphatic system abnormalities.

These tests listed in the GTR are designed to detect changes or variants in the FOXC2 gene that are related to the lymphoedema-distichiasis syndrome. By identifying these genetic changes, healthcare professionals can provide accurate diagnosis, prognosis, and treatment recommendations.

The GTR provides additional information about the tests such as test names, the system used for testing, conditions tested, and associated scientific articles from PubMed and other databases. This information is valuable for researchers, healthcare professionals, and individuals seeking genetic testing for lymphoedema-distichiasis syndrome.

Below is a summary of the tests listed in the Genetic Testing Registry for the FOXC2 gene:

  • Test Names: Various names are used to describe the tests, including FOXC2 Gene Sequencing, FOXC2 Gene Deletion/Duplication Analysis, FOXC2 Gene Mutation Analysis, etc.
  • Testing System: Different testing systems or methods, such as sequencing or deletion/duplication analysis, are employed to detect changes in the FOXC2 gene.
  • Conditions Tested: The tests are specifically designed to diagnose lymphoedema-distichiasis syndrome or related conditions.
  • Associated Scientific Articles: The GTR provides references to scientific articles from PubMed and other databases that offer additional information on the FOXC2 gene and related conditions.

In addition to the GTR, other resources like OMIM (Online Mendelian Inheritance in Man) and the Human Genes and Genetic Disorders catalog may also provide relevant information on the FOXC2 gene and lymphoedema-distichiasis syndrome.

Genetic testing for the FOXC2 gene plays a vital role in understanding the underlying causes of lymphoedema-distichiasis syndrome and providing appropriate medical guidance for affected individuals and their families. Utilizing the information available in the GTR and other genetic databases can aid in accurate diagnosis and management of this rare genetic disorder.

Scientific Articles on PubMed

The FOXC2 gene is a crucial gene involved in the formation of lymphedema-distichiasis or lymphoedema-distichiasis syndrome. Testing the FOXC2 gene is essential for diagnosing individuals with these conditions. Health professionals can access the FOXC2 gene in databases like OMIM and the registry for lymphedema-distichiasis syndrome. These resources catalog information, references, and additional scientific articles on the FOXC2 gene and related diseases.

Furthermore, there are other free articles available on PubMed related to the FOXC2 gene and its variants. These scientific articles provide information on the genetic changes associated with the FOXC2 gene, as well as how these changes affect other systems and contribute to various medical conditions.

The FOXC2 gene is just one of many genes involved in lymphedema and related conditions. Health professionals can access genetic databases to find information on other genes related to these conditions. These databases provide names, changes, and variant information for the genes associated with lymphedema and other related diseases.

By utilizing the resources available on PubMed, health professionals can stay updated on the latest scientific articles regarding the FOXC2 gene and other relevant genes and conditions. These articles provide valuable insights into the genetic basis of lymphedema and related disorders and assist in improving diagnosis and treatment approaches.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM, or Online Mendelian Inheritance in Man, is a comprehensive and authoritative resource for genetic information. It provides detailed information on genes and associated diseases, as well as related articles and scientific references.

OMIM is a free database that lists genetic conditions and genes that are known to be associated with those conditions. It also includes information on variant names, additional resources, and changes in gene names. The database covers a wide range of genetic diseases and conditions, including lymphedema-distichiasis syndrome, Dagenais syndrome, and many others.

For each gene and disease listed in OMIM, there is a detailed entry that provides information on the gene’s function, expression pattern, and associated diseases. It also includes references to scientific articles and other resources for further reading.

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In addition to OMIM, there are other resources available for genetic health information. The Genetic and Rare Diseases Information Center (GARD) provides information on genetic conditions and related genes. The Human Gene Mutation Database (HGMD) is a comprehensive database of genetic mutations and their associated diseases.

If you are interested in testing for a specific genetic condition or gene variant, it is recommended to consult with a healthcare professional or genetic counselor. They can provide guidance on appropriate testing options and help interpret the results.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for genetic health information. It provides comprehensive and up-to-date information on genes and associated diseases, making it a valuable tool for researchers, healthcare professionals, and individuals seeking information on genetic conditions.

  • Formation of the lymphedema-distichiasis syndrome
  • Testing for the FOXC2 gene
  • Other related genes and conditions
  1. OMIM: https://omim.org/
  2. GARD: https://rarediseases.info.nih.gov/gard
  3. HGMD: http://www.hgmd.cf.ac.uk/ac/index.php

Gene and Variant Databases

Formation and registry databases serve as essential resources for collecting, organizing, and disseminating information about genes and genetic variants. These databases are crucial for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of health and disease.

One of the most well-known gene databases is PubMed, which is a comprehensive repository of scientific articles and references. Researchers can search for specific genes, including FOXC2, and access valuable information on their functions, mutations, and associations with various diseases.

Additionally, there are specialized databases and catalogs that focus specifically on genes and variants. These resources provide detailed information about the genetic changes related to specific conditions and syndromes.

For example, the OMIM (Online Mendelian Inheritance in Man) database lists genes associated with different diseases. Searching for the FOXC2 gene on this database would provide information about various genetic changes linked to conditions such as Dagenais-Lymphoedema-Distichiasis syndrome.

Moreover, variant databases offer a systematic approach to catalog and analyze genetic variations. These databases categorize variants by their genomic regions, facilitating targeted testing and analysis. Often, these databases include additional scientific resources, such as articles and references related to specific variants.

It is important to note that these databases are not limited to FOXC2 or specific genes; they cover a wide range of genes and conditions. The resources provided by these databases are freely accessible and serve as valuable tools for researchers, healthcare professionals, and individuals interested in genetic testing and understanding inherited conditions.

References

  • Dagenais SL, Hartsough RL, Erickson RP et al. Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb. Circulation. 2002 May 28;105(21):2503-8. PMID: 12034645.

    This article provides information on the genetic variant of FOXC2 gene and its association with primary valve failure in veins of the lower limb.

  • OMIM Entry – #153400 – LYMPHEDEMA-DISTICHIASIS SYNDROME. OMIM. Accessed October 3, 2021.

    Available at: https://omim.org/entry/153400.

    This entry on OMIM provides information on the LYMPHEDEMA-DISTICHIASIS SYNDROME, including the associated genes, related conditions, and genetic testing resources.

  • Lymphoedema-distichiasis. Genetic Testing Registry. Accessed October 3, 2021.

    Available at: https://www.ncbi.nlm.nih.gov/gtr/conditions/C0795786/.

    This genetic testing registry page provides information on the Lymphoedema-distichiasis condition, including associated genes, testing resources, and additional references.

  • FOXC2 gene – Genetics Home Reference. U.S. National Library of Medicine. Accessed October 3, 2021.

    Available at: https://ghr.nlm.nih.gov/gene/FOXC2.

    This page from Genetics Home Reference provides information on the FOXC2 gene, its role in lymphedema-distichiasis syndrome, and related conditions.

  • FOXC2 – PubMed. U.S. National Library of Medicine. Accessed October 3, 2021.

    Available at: https://pubmed.ncbi.nlm.nih.gov/?term=FOXC2.

    This search results page from PubMed lists scientific articles and studies related to the FOXC2 gene, its variants, and associated health conditions.

  • FOXC2 gene – GeneCards. Accessed October 3, 2021.

    Available at: https://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXC2.

    This page from GeneCards provides detailed information on the FOXC2 gene, its aliases, related diseases, and scientific references.

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