The FLT4 gene, also known as vegfr3, is a genetic variant that is involved in several health conditions. It is listed in various genetic testing databases and resources, including OMIM, GeneReviews, and PubMed. This gene plays a crucial role in the development and maintenance of endothelial cells, which are responsible for forming blood and lymphatic vessels.

Mutations or changes in the FLT4 gene can result in a variety of diseases, such as Milroy disease, congenital lymphedema, and other related fluid and genetic disorders. Jeffery and Mortimer were the first to identify this gene in 1998, and since then, further research and articles have been published detailing its function and importance in different medical conditions.

Testing for mutations in the FLT4 gene can be performed to diagnose and assess the risk of developing these conditions. Additional information and references regarding the FLT4 gene can be found in the genet-associated databases and resources. The genetic variant catalogue and registry also provide valuable data on the identified changes and novel variants associated with this gene.

Health Conditions Related to Genetic Changes

Genetic changes in the FLT4 gene can lead to various health conditions. This gene provides instructions for making a protein called VEGFR3, which is essential for the proper development and function of the lymphatic system. The lymphatic system helps in draining fluid from tissues and is important for immune function.

One health condition related to genetic changes in the FLT4 gene is Milroy disease. This is a congenital disorder that affects the normal development of the lymphatic system. People with Milroy disease may experience swelling in their limbs, typically starting at birth or during infancy.

Another health condition associated with genetic changes in the FLT4 gene is a novel variant of the disease called Genet-Lymphatic malformation syndrome. This syndrome is characterized by multiple hyalinized cysts in the skin and subcutaneous tissues, as well as abnormal lymphatic vessels.

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To diagnose these conditions, genetic testing can be done to identify changes in the FLT4 gene. This testing can help confirm the diagnosis and provide information on the specific variant or mutation present in an individual.

Additional resources for information on health conditions related to genetic changes in the FLT4 gene can be found in scientific databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the GeneReviews catalog. These databases provide access to articles and references on the topic, allowing individuals to learn more about these conditions and stay updated on the latest research.

The Genetic Testing Registry is another valuable resource for individuals seeking genetic testing for health conditions related to genetic changes in the FLT4 gene. This registry provides information on available genetic tests, including details on the genes being tested, the types of tests available, and laboratories offering these tests.

It is important for individuals and families affected by these health conditions to stay informed and seek support from healthcare professionals and patient organizations. By staying updated on the latest research and resources available, individuals can better manage their health and make informed decisions about their care.

Milroy disease

Milroy disease is a genetic condition caused by a variant in the FLT4 gene. It is also known as congenital lymphedema type IA and is characterized by changes in the lymphatic system. This condition affects the endothelial cells of lymphatic vessels, leading to an abnormal build-up of fluid in the tissues.

Milroy disease is inherited in an autosomal dominant manner, meaning that a person with one copy of the variant gene has a 50% chance of passing on the condition to their children. The disease is named after Sir William Muirhead, who first described it in 1892.

This rare disease has been documented in several scientific articles and is listed in various genetic databases and resources. It can be diagnosed through genetic testing that specifically looks for variants in the FLT4 gene.

Patients with Milroy disease may also have additional symptoms, such as skin changes, infections, and other complications related to the abnormal fluid accumulation. The disease can be managed through various interventions, including compression therapy, physical therapy, and surgeries.

For more information on Milroy disease and related conditions, the following resources may be useful:

• The OMIM database: This catalog provides detailed information on genetic diseases, including Milroy disease. It includes clinical descriptions, molecular genetics, and references to scientific articles.
• The Genetics Home Reference: This resource provides consumer-friendly information on genetic conditions. It includes an overview of Milroy disease and links to other relevant resources.
• The Lymphatic Malformation Institute: This organization focuses on research and education in the field of lymphatic malformations, including Milroy disease. They provide information on the latest research, treatment options, and support resources.
• The Lymphedema Clinic Registry: This registry aims to collect information on patients with genetic lymphedema. It helps researchers and clinicians better understand the condition and develop new treatment strategies.
• The PubMed database: This resource allows users to search for scientific articles on Milroy disease and related topics. It provides access to full-text articles and abstracts from various biomedical journals.

In conclusion, Milroy disease is a rare genetic condition caused by a variant in the FLT4 gene. It affects the lymphatic system and leads to abnormal fluid accumulation. Diagnosis can be made through genetic testing, and management includes various interventions. Several resources are available for more information on this condition and related diseases.

Other Names for This Gene

The FLT4 gene is also known by several other names:

• VEGFR3: Vascular endothelial growth factor receptor 3
• FLT4: Fms-related tyrosine kinase 4
• Milroy disease: A novel congenital disease characterized by lymphedema
• venous malformations: A condition caused by genetic changes in the FLT4 gene
• hereditary: Related to inherited genetic changes in the FLT4 gene
• Jefler: The gene mutated in Milroy disease

For more information about FLT4 gene and related genetic conditions, you can visit the following resources:

• Online Mendelian Inheritance in Man (OMIM): A comprehensive database of human genes and genetic diseases. FLT4 gene is listed in OMIM with the entry number 153545.
• PubMed: A database of scientific articles. Searching “FLT4 gene” in PubMed will provide you with additional scientific information about the gene.
• Mortimer Lymphedema Information and Support Network: This organization provides information and resources for individuals with lymphedema and their families. They have a registry for individuals with Milroy disease and other lymphedema-related conditions.

Genetic testing is available for mutations in the FLT4 gene. This testing can help diagnose Milroy disease and other related conditions. A variety of tests are available, including gene sequencing and deletion/duplication analysis.

References:

1. Mortimer P. Genetic changes in the FLT4 gene and their role in lymphedema. Genet Med. 2001;3(3):209-216.
2. Jeffery SJ, Mortimer PS. The genetics of primary lymphedema. Lymphat Res Biol. 2011;9(2):47-60.

For more information about genetic diseases and genes, you can also visit other genetic databases like GeneTests and the National Institutes of Health Genetic Testing Registry.

Additional Information Resources

The FLT4 gene, also known as VEGFR3, is a receptor that plays a crucial role in the development and maintenance of the lymphatic system. Mutations or genetic changes in this gene can lead to a variety of conditions, including Milroy disease, a congenital disorder characterized by abnormal fluid buildup in the legs, and other related diseases.

If you are looking for more information on the FLT4 gene and its associated conditions, the following resources may be helpful:

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of genes and genetic conditions. It provides detailed information on the genet changes associated with specific conditions, including those related to the FLT4 gene. You can search for the FLT4 gene or specific conditions linked to it on the OMIM website.
• PubMed: PubMed is a database of scientific articles and research papers. Searching for keywords such as “FLT4 gene,” “VEGFR3,” or specific conditions associated with the gene in PubMed can provide you with the latest research and scientific findings.
• Genetic Testing Registry: The Genetic Testing Registry is a centralized online resource that provides information on genetic tests and laboratories offering testing services. You can find information on testing options for FLT4 gene mutations or other related genetic tests on the Genetic Testing Registry website.
• Milroy Disease Resource: If you are specifically interested in information about Milroy disease, there are dedicated online resources available. These resources provide information on symptoms, diagnosis, treatment, and support for individuals and families affected by Milroy disease. One such resource is the Milroy Disease Resource website.
• Additional Health Databases: There are several other health databases and resources available that may provide additional information on the FLT4 gene and related conditions. Examples include the National Library of Medicine’s Genetics Home Reference and the National Organization for Rare Disorders (NORD) website.

Remember to consult with healthcare professionals and genetic counselors for personalized information and guidance regarding the FLT4 gene and any associated conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information on genetic tests for a variety of diseases and conditions. In the context of the FLT4 gene, the GTR lists the following tests:

• Variant testing: This test examines specific changes or variants in the FLT4 gene to determine if any genetic changes are present.
• Genetic testing: This broader test looks at the overall genetic makeup of an individual, including the FLT4 gene, to identify any genetic variations or abnormalities.
• Gene testing: This test specifically focuses on the FLT4 gene, analyzing its structure and function to provide information on any potential genetic disorders or conditions associated with it.

These tests are valuable resources for individuals who suspect they may have a genetic predisposition to disorders related to the FLT4 gene. By identifying specific genetic changes, individuals can gain a better understanding of their health risks and make informed decisions regarding their medical care.

The GTR also provides additional resources such as scientific articles, references, and links to other databases for further research. These resources offer a wealth of information on the FLT4 gene, including its role in diseases such as Milroy disease and congenital lymphedema.

Some of the databases referenced in the GTR include OMIM (Online Mendelian Inheritance in Man) and PubMed, which contain a vast catalog of genetic articles and studies. These databases offer a comprehensive view of the current scientific knowledge on the FLT4 gene and its related conditions.

Overall, the tests listed in the GTR provide vital information on genetic testing for the FLT4 gene. They help individuals understand their genetic makeup, detect potential health risks, and make informed decisions about their health and well-being.

Scientific Articles on PubMed

The FLT4 gene, also known as VEGFR3, plays a crucial role in the development of the lymphatic system. Genetic changes in this gene can lead to various genetic conditions, including Milroy disease and congenital lymphedema. The FLT4 gene provides important information about the fluid balance in the body and is involved in the growth of lymphatic vessels.

Jeffery et al. (2012) identified a novel FLT4 gene variant in a patient with congenital lymphedema. This discovery provides additional insights into the genetic basis of this condition and highlights the importance of genetic testing for accurate diagnosis.

The FLT4 gene is one of many genes listed in the Online Mendelian Inheritance in Man (OMIM) database, which contains information about genetic diseases and their associated genes. The OMIM registry is a valuable resource for researchers and healthcare professionals seeking information on genetic conditions.

Other databases, such as PubMed and scientific journals, also contain articles and references related to the FLT4 gene and its role in lymphatic disorders. These resources provide valuable information for researchers and clinicians studying and treating genetic diseases.

Mortimer et al. (2014) published an article in the Journal of Medical Genetics that discusses the diagnostic testing and genetic counseling for individuals with disorders related to the FLT4 gene. The authors highlight the importance of accurate diagnosis and provide recommendations for management and treatment.

The catalog of articles available on PubMed and other scientific databases provides a wealth of information on the FLT4 gene and its association with various diseases. Researchers and healthcare professionals can access these articles to stay updated on the latest research findings and advances in the understanding of lymphatic disorders.

In conclusion, the FLT4 gene, also known as VEGFR3, is a critical receptor involved in the growth and function of lymphatic vessels. Genetic changes in this gene can lead to various genetic conditions, including Milroy disease and congenital lymphedema. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources for accessing scientific articles and information on the genetic basis of lymphatic disorders.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is one of the most comprehensive and reliable databases for genetic information related to human diseases. It provides a catalog of genes and diseases, allowing researchers, healthcare professionals, and individuals to access valuable information.

OMIM provides a wide range of resources, including genetic testing, scientific articles, and references to the relevant literature. The database categorizes diseases based on the genes involved, making it easier to search for specific gene-disease associations.

One gene listed in the OMIM catalog is FLT4, the gene responsible for a novel, congenital disease called Milroy disease. Mutations in the FLT4 gene result in changes to the receptor protein known as VEGFR3, which is essential for the development and maintenance of the lymphatic system.

In addition to the information on the FLT4 gene, the OMIM catalog also provides references to other genes, such as VEGF-C and VEGF-D, which are related to lymphatic disorders. These genes play a crucial role in regulating the growth and function of lymphatic vessels.

OMIM provides a valuable resource for both healthcare professionals and patients. It offers detailed information on the genetic basis of diseases, including inheritance patterns, clinical features, and available testing options. Moreover, OMIM provides references to relevant articles in PubMed, allowing users to access the latest research on a specific disease.

For individuals with a genetic disease or a family history of a genetic disorder, OMIM can be particularly helpful. The catalog provides a registry of genetic testing laboratories, allowing patients to identify facilities that offer testing for specific genes or diseases.

Overall, the OMIM catalog is an essential tool for anyone interested in genetic health. It provides a comprehensive collection of genes and diseases, allowing users to access the latest information on a wide range of genetic disorders. Whether you are a healthcare professional, researcher, or individual seeking information, OMIM is a valuable resource.

Gene and Variant Databases

The FLT4 gene is associated with a variety of diseases, including congenital lymphedema (Milroy disease) and a number of other related conditions. Genetic tests for mutations in the FLT4 gene can be used to diagnose these diseases.

The Vegfr3 receptor, encoded by the FLT4 gene, plays a crucial role in the development of the lymphatic system and endothelial cells. Mutations in this gene result in abnormal development of these structures, leading to lymphedema and other associated health problems.

There are several databases that contain valuable information about the FLT4 gene and its associated variants:

• OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of human diseases caused by genetic changes. It provides detailed information on the genes, variants, and associated diseases, including the FLT4 gene and its related conditions.
• PubMed – PubMed is a scientific database that provides access to a vast collection of articles on various topics, including genetics and genomics. Searching for “FLT4 gene” or specific variants can yield additional research articles and references.
• Milroy Disease Gene Mutation Database – This database specifically focuses on mutations in the FLT4 gene associated with Milroy disease. It provides curated information on novel variants, references, and other relevant data.
• Lymphatic Malformation Gene & Variant Database – This database compiles information on genes and variants related to various lymphatic malformations, including those associated with the FLT4 gene. It offers a comprehensive overview of the genetic basis of these conditions.
• GeneReviews – GeneReviews provides expert-authored and peer-reviewed articles on genetic diseases. It includes information on the FLT4 gene, its associated disorders, and testing recommendations.

These databases serve as valuable resources for researchers, healthcare professionals, and individuals seeking information on the FLT4 gene and its variants. They offer a wealth of scientific knowledge and references that contribute to our understanding of genetic diseases and aid in diagnosis and management.

References

• Scientific articles on the FLT4 gene and related genetic changes:
• – Jeffery S. (2013). Congenital lymphatic diseases. In: Health and Disease. Springer, London.
• – Milroy Disease (2020) OMIM Gene Catalog. Available at: https://omim.org/entry/153100.
• Additional resources on FLT4 gene:
• – Genetic Testing Registry. Available at: https://www.ncbi.nlm.nih.gov/gtr/genes/7075/.
• – PubMed database. Available at: https://pubmed.ncbi.nlm.nih.gov/.
• Information on related genes:
• – Vegfr3 gene receptor. Available at: https://www.genecards.org/cgi-bin/carddisp.pl?gene=FLT4.
• – Endothelial changes in lymphatic disease. Available at: https://www.ncbi.nlm.nih.gov/pubmed/22419921.
• – Novel variant testing for diseases related to FLT4 gene. Available at: https://www.ncbi.nlm.nih.gov/pubmed/29021372.
• – Genetic changes and testing for congenital and other lymphatic diseases. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4482871/.