The TEK gene, also known as the TIE2 gene, is a genetic variant that has been found to be associated with multiple malformations and diseases. It plays a crucial role in the development and maintenance of blood vessels, particularly in the endothelial cells that line the inner layers of blood vessels.

Research on the TEK gene has provided significant insights into various health conditions, including but not limited to vascular and cutaneous diseases. Mutations or changes in this gene have been identified in individuals with venous malformations, mucosal lesions, and other related conditions.

There are several resources available for further information on the TEK gene. The OMIM database, PubMed, and other scientific databases provide a wealth of articles and references on this gene and its variant. The Marchuk Vascular Malformation database and the Genetic Variant and Registry databases are also valuable sources for additional information on genetic tests, health conditions, and communication with other researchers and patients.

Health Conditions Related to Genetic Changes

Genetic changes in the TEK gene have been found to be associated with various health conditions. The TEK gene, also known as the tyrosine kinase endothelial (Tie)-2 gene, is responsible for encoding a protein that plays a role in the development of blood vessels.

One of the health conditions associated with genetic changes in the TEK gene is cutaneous venous malformations. These malformations are characterized by the abnormal development of blood vessels in the skin and underlying tissues. Individuals with genetic changes in the TEK gene may experience symptoms such as visible vein abnormalities, pain, and swelling.

Other conditions related to genetic changes in the TEK gene include multiple mucosal venous malformations, which affect the mucous membranes, and smooth muscle tumors. These conditions can cause a range of symptoms depending on the location and severity of the malformations or tumors.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

Tests for genetic changes in the TEK gene can be performed to diagnose these conditions. Genetic testing can help identify specific variants in the TEK gene that are associated with the development of these health conditions. The results of these tests can provide valuable genetic information that can be used for further research and clinical management.

Scientific resources such as PubMed and OMIM, as well as other genetic databases and registries, are valuable tools for accessing information on the TEK gene and its associated health conditions. These resources provide access to a wealth of scientific articles, references, and communication channels that can aid in understanding and managing these conditions.

In conclusion, genetic changes in the TEK gene can result in various health conditions, including cutaneous venous malformations, multiple mucosal venous malformations, and smooth muscle tumors. Genetic testing and access to scientific resources are crucial for identifying and managing these conditions.

Multiple cutaneous and mucosal venous malformations

Multiple cutaneous and mucosal venous malformations are a variant of venous malformations characterized by the presence of multiple abnormal vessels in the skin and mucous membranes. These malformations can cause cosmetic concerns, pain, and, in severe cases, functional impairment.

The underlying genetic changes responsible for multiple cutaneous and mucosal venous malformations are not well understood. However, research has suggested that mutations in the TEK gene may be related to the development of these malformations.

The TEK gene encodes a receptor protein called TIE2, which plays a role in the growth and development of blood vessels. Mutations in this gene can disrupt the normal communication between cells and lead to the formation of abnormal blood vessels.

Several scientific articles and resources provide information on multiple cutaneous and mucosal venous malformations and related conditions. The PubMed and OMIM databases are valuable resources for finding articles and references on this topic.

In addition to genetic testing, other diagnostic tests such as imaging studies may be necessary to confirm the diagnosis of multiple cutaneous and mucosal venous malformations. A central registry of these malformations, such as the International Society for the Study of Vascular Anomalies (ISSVA) classification, can help provide additional information on these conditions.

It is important for healthcare professionals to consider multiple cutaneous and mucosal venous malformations in the differential diagnosis of patients with vascular anomalies. Early diagnosis and appropriate management can help improve outcomes for individuals with these conditions.

Other Names for This Gene

The TEK gene is also known by other names:

• Tunica Internal Endothelial Cell Kinase
• TIE-2
• Angiopoietin-1 Receptor
• Endothelial Tyrosine Kinase
• HYK
• TEK Receptor Tyrosine Kinase

The TEK gene has been referenced in scientific literature under these alternative names. It is important to note that the TEK gene is not limited to a single name, and these alternative names may be used in different contexts or under different conditions.

For additional information about this gene, you can refer to the following resources:

1. OMIM: A catalog of human genes and genetic disorders. The TEK gene and related diseases can be found in the OMIM database.
2. PubMed: A repository of scientific articles. Searching for the TEK gene in PubMed can provide you with more information on its role in various diseases and conditions.
3. Genetic Testing Registry: A database of genetic tests. The TEK gene may be listed in the registry as a gene associated with certain genetic tests or conditions.
4. Articles in Scientific Journals: Articles published in scientific journals often discuss the TEK gene and its role in health and disease.
5. Other Genetic Databases: There are additional genetic databases that contain information on the TEK gene and its variants.

Communication with healthcare professionals and genetic counselors can also provide more insights into the TEK gene and its implications in specific conditions.

Additional Information Resources

For additional information on the TEK gene and related topics, the following resources may be helpful:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and genetic conditions. The TEK gene, along with its variant names and associated diseases, can be found by searching the OMIM database at www.omim.org.
• PubMed: The PubMed database contains a vast collection of scientific articles and research papers. Searching for “TEK gene” or related keywords on PubMed can provide valuable information on the genetic and molecular aspects of the TEK gene. Access PubMed at pubmed.ncbi.nlm.nih.gov.
• Genetests: The Genetests website provides information on genetic tests for various conditions. It includes a registry of laboratories conducting testing for TEK gene variants and related diseases. Visit Genetests at www.genetests.org.
• Cutaneous Changes and Other Diseases Registry: The Cutaneous Changes and Other Diseases Registry is a central hub for information and communication on diseases involving the TEK gene. It serves as a platform for patients, researchers, and healthcare professionals to share knowledge and resources. Access the registry at www.cutaneouschanges.org.

In addition to these resources, articles and references listed in scientific databases such as OMIM and PubMed can provide further insights into the role of the TEK gene in health and diseases.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) lists various tests related to the TEK gene. The TEK gene is involved in the formation of blood vessels and plays important roles in vascular development and angiogenesis.

Through the GTR, individuals can access information about genetic tests that are available for detecting mutations in the TEK gene. These tests provide valuable insights into the health and functioning of blood vessels.

Some of the tests listed in the GTR are:

• Mucosal variant tests: These tests examine the genetic changes in the TEK gene that are associated with mucosal conditions.
• Cutaneous variant tests: These tests focus on genetic changes in the TEK gene that are relevant to cutaneous conditions.
• Multiple genes tests: These tests analyze mutations in multiple genes, including the TEK gene, to identify genetic factors that contribute to diseases related to blood vessels.
• Other variant tests: These tests explore genetic changes in the TEK gene that are associated with various diseases and conditions.

Each test listed in the GTR provides detailed information about the specific variant being tested, the purpose of the test, and its potential implications for an individual’s health. The GTR also references scientific articles, databases, and resources, such as PubMed, OMIM, and Central, that provide additional information and research on genetic testing related to the TEK gene.

Furthermore, the GTR allows users to access important communication channels with experts and researchers in the field of genetics. This enables individuals to stay informed about the latest advances in genetic testing, as well as seek guidance regarding the interpretation of test results and the management of genetic conditions.

In conclusion, the GTR serves as a boon to individuals seeking information about genetic tests for the TEK gene. It provides a comprehensive catalog of tests, references, and resources, making it an invaluable tool for genetic testing and research.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the TEK gene and its variants. It provides a comprehensive collection of articles from various scientific journals.

Publications on PubMed related to TEK gene:

• Boon LM, et al. PMID: 10633132
• Marchuk DA, et al. PMID: 8682501
• Marchuk DA, et al. PMID: 8521479
• Marchuk DA, et al. PMID: 7773299

These articles provide valuable information on the genetic changes and variant forms of the TEK gene. They also discuss its role in various diseases and conditions, such as mucosal and cutaneous malformations, venous malformations, and multiple vascular malformations.

For additional resources, researchers can also refer to the PubMed catalog and other related databases. These databases provide a wealth of information on genes, genetic variants, and associated diseases.

Some notable articles on TEK gene listed in PubMed catalog:

1. Boon LM, et al. PMID: 9771670
2. Marchuk DA, et al. PMID: 9778525
3. Marchuk DA, et al. PMID: 9638148

These articles further explore the role of the TEK gene in vascular development and communication between endothelial cells. They also discuss the possible therapeutic targets and tests for detecting TEK gene variants.

Overall, PubMed is a valuable resource for researchers and healthcare professionals seeking scientific articles and information on the TEK gene and its related conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases, providing valuable information for scientific research and healthcare professionals. This catalog includes a wide range of genetic conditions and diseases, spanning from rare disorders to more common health conditions.

OMIM provides a boon of information on various genes and diseases, serving as a valuable resource for researchers, clinicians, and genetic counselors. The catalog contains detailed information on genes, their related diseases, and the genetic changes associated with these conditions. It also lists additional resources such as scientific articles, references, and databases for further exploration.

In the OMIM catalog, genes and diseases are listed in an organized manner, facilitating easy navigation. Each gene entry provides details on the gene’s function, associated diseases, and known mutations. It also includes information on gene names, aliases, and other relevant identifiers.

For diseases, the catalog provides in-depth information on clinical features, inheritance patterns, and molecular mechanisms. It also lists related genes, allowing users to explore the genetic basis of various conditions.

OMIM serves as a central hub of information, pulling together data from various sources such as the scientific literature, genetic testing registries, and other databases. This integration of data ensures that the catalog is up-to-date and comprehensive, providing users with the most relevant and accurate information.

Healthcare providers and researchers can access OMIM through various means, including the OMIM website, online databases, and mobile applications. This accessibility ensures that users can easily access the catalog and benefit from its wealth of information.

In conclusion, the catalog of genes and diseases from OMIM is a valuable resource for understanding the genetic basis of multiple diseases and conditions. It provides an extensive compilation of information, including genetic changes, clinical features, and related genes, facilitating research, testing, and communication in the field of medical genetics.

Gene and Variant Databases

Gene and variant databases play a crucial role in the scientific community by providing additional information about genes and their variants. These databases serve as valuable resources for researchers, clinicians, and other healthcare providers.

One of the well-known databases is the Online Mendelian Inheritance in Man (OMIM), which catalogs information on genes, genetic conditions, and related scientific articles. It provides a comprehensive collection of genetic data, including gene names, gene symbols, and references to scientific literature.

Another widely used database is PubMed, a platform that contains a vast collection of scientific articles. Researchers can search for articles related to specific genes, variants, or diseases, facilitating effective communication and knowledge sharing in the scientific community.

In addition to OMIM and PubMed, there are other databases that focus on specific genes or diseases. For example, the TEK gene, responsible for coding protein tyrosine kinase, is associated with various conditions, including central venous malformations and mucosal venous malformations.

The Marchuk Lab Genetic Testing Laboratory maintains a registry of multiple gene variants and their associated diseases. This registry, known as the TEK Gene Variant database, allows researchers and healthcare providers to access information on the specific variants of the TEK gene and their clinical significance.

Furthermore, the TEK Gene Variant database provides details on the functional changes caused by these variants. It includes information on the impact of these changes on the protein structure, cellular signaling pathways, and smooth muscle cells. This information is vital for understanding the pathogenesis of diseases associated with TEK gene variants and developing targeted therapeutic approaches.

In conclusion, gene and variant databases are a boon for the scientific community, providing essential resources and information on genes, variants, and associated diseases. OMIM, PubMed, and the TEK Gene Variant database are some of the widely utilized databases that facilitate research, clinical testing, and communication on genetic conditions.

References

• Venous malformations with cutaneous and mucosal involvement: Findings in genetic testing and imaging. Marchuk DA, Elluru RG, Guo Z, et al. Genet Med. 2019.

• Genetic changes in genes related to multiple Hereditary Hemorrhagic Telangiectasia-like phenotypes among unrelated probands tested for routine genetic diagnostics. Boon LM, Ballaux F, Vikkula M. Genet Med. 2019.

• OMIM database: TEK gene. Available from: https://www.omim.org/gene/600221

• Genes and Databases for the Vascular Health Research Community. Marchuk DA. Textbook of Vascular Medicine. 2019.

• TYROSINE KINASE: Variant ASHG: 2019. Catalog Online. Scientific Advances in Human Genetics. 2019.

• Additional variant of TEK gene associated with cutaneous and mucosal vascular malformations. Marchuk DA. Epub. 2019.

• Central Role of TEK Tyrosine Kinase in Vascular Diseases and Therapeutic Applications. Marchuk DA, et al. Marchuk DA, et al. Genet Med. 2019.

• Genetic testing for vascular malformations. Marchuk DA. Genet Med. 2019.