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The MED13L gene is responsible for encoding proteins that are crucial for the proper functioning of the mediator complex. This complex regulates the activity of genes by facilitating communication between regulatory factors and the transcription machinery. Mutations in the MED13L gene have been found to impair the function of the mediator complex, leading to significant changes in gene expression.

Research on the MED13L gene is ongoing, with numerous scientific articles and references available on various databases. It has been associated with a range of congenital conditions, including developmental delay, intellectual disability, and congenital heart defects. The MED13L gene is considered one of the critical genes related to these conditions.

Genetic tests can be conducted to identify variants in the MED13L gene. These tests are often recommended for individuals with symptoms indicative of a MED13L-related syndrome. Variants in the MED13L gene are listed in various databases, including OMIM and PubMed. Additional information can be found on resources such as the MED13L Disease Registry and the Mediator Complex Disease Catalog.

It is important to note that not all individuals with variants in the MED13L gene will experience negative health outcomes. The severity of the disease can vary depending on the specific variant and other genetic and environmental factors. Further research and testing are necessary to fully understand the function of the MED13L gene and its role in congenital diseases.

Genetic changes in the MED13L gene have been associated with several health conditions. The MED13L gene is involved in the regulation of gene expression and plays a critical role in the development of various organs and tissues.

  • Missense Variants: Missense variants in the MED13L gene have been linked to MED13L-related syndrome, a congenital disorder characterized by intellectual disability, developmental delay, and distinctive facial features.
  • Heart Disease: Some genetic changes in the MED13L gene have been associated with congenital heart defects, such as atrial septal defects (ASDs) and ventricular septal defects (VSDs).
  • Other Genetic Changes: In addition to missense variants, other types of genetic changes in the MED13L gene, such as deletions or duplications, have also been identified in individuals with different health conditions.

It is important to note that not all genetic changes in the MED13L gene will lead to a health condition. Some changes may have no effect, while others may cause mild or severe impairments.

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To gather more information about the different health conditions related to genetic changes in the MED13L gene, there are several resources available:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders, including those associated with the MED13L gene.
  • GeneTests: GeneTests is a comprehensive genetic testing resource that provides information on various genetic conditions, including those related to MED13L gene changes.
  • Scientific Databases: PubMed and other scientific databases contain articles and references related to the MED13L gene and its role in health and disease.
  • Gene/Clinical Variant Databases: The MED13L gene may be listed in various gene or clinical variant databases, which provide information on known gene variants and their associated health conditions.

Genetic testing may be necessary to confirm the presence of specific MED13L gene changes and their association with certain health conditions. It is recommended to consult with a healthcare professional or genetic counselor for further guidance and appropriate testing.

MED13L syndrome

MED13L syndrome is a complex genetic disease caused by changes in the MED13L gene. This gene is listed in the Online Mendelian Inheritance in Man (OMIM) database, which provides information on genes and genetic conditions.

People with MED13L syndrome may experience a range of symptoms and health issues, including intellectual disability, developmental delays, congenital heart defects, and changes in facial features. Additional features can vary widely among individuals and may include autism spectrum disorder, epilepsy, and other related conditions.

Diagnostic tests, including genetic testing, can be performed to identify changes in the MED13L gene. These tests can help confirm a diagnosis of MED13L syndrome and provide information about the specific variants or missense changes in the gene.

A MED13L syndrome registry has been established to collect information about individuals with this condition. This registry aims to gather data on the natural history of the disease, genotype-phenotype correlations, and provide resources and support for affected individuals and their families.

See also  MSX2 gene

MED13L is a subunit of the mediator complex, which is involved in regulating gene expression. Changes in this gene can impair the function of the mediator complex, leading to the development of MED13L syndrome.

Information about MED13L syndrome can be found in scientific articles, online databases, and resources such as PubMed, OMIM, and the Catalog of Human Genetic Variation (ClinVar). These sources provide information on the genetic variants and associated clinical features of this syndrome.

As MED13L syndrome is a rare disease, it is important for healthcare professionals to stay updated with the latest research and diagnostic testing methods. Collaboration among clinicians, researchers, and other healthcare providers is critical to improve the understanding and management of this syndrome.

  1. References:
  • Rauch A, Wieczorek D, Graf E, et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet. 2012;380(9854):1674-1682. doi:10.1016/S0140-6736(12)61480-9
  • OMIM. MED13L gene. https://www.omim.org/gene/608771. Accessed July 20, 2021.
  • The MED13L Foundation. https://www.med13l.org/. Accessed July 20, 2021.

Critical congenital heart disease

Critical congenital heart disease (CCHD) refers to a group of complex and life-threatening heart conditions that affect infants. These conditions typically require immediate medical intervention to prevent serious complications or death.

Different genetic variants have been identified as potential causes of CCHD. One gene in particular that has been associated with CCHD is the MED13L gene. MED13L is involved in the regulation of gene expression and plays a critical role in heart development and function.

Mutations or changes in the MED13L gene can result in a range of congenital heart defects. These defects can vary in severity and complexity, but all have the potential to negatively impact the overall health and well-being of affected individuals.

Information on MED13L gene variants and their association with CCHD can be found in various scientific articles, databases, and resources. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are examples of databases that provide references and related articles on MED13L and CCHD.

Genetic testing for MED13L variants can be helpful in diagnosing CCHD and providing information on the specific changes in the gene. This testing can aid in determining the appropriate treatment and management strategies for individuals with CCHD.

In addition to MED13L, there are other genes and proteins that have been identified as potential contributors to CCHD. The genes and proteins listed in the CCHD-Genes database and Congenital Heart Defects Registry are examples of resources that provide information on these additional factors.

It is important to note that CCHD is a complex condition that can be influenced by multiple genetic and environmental factors. Identifying the specific genetic changes and understanding their function is crucial for improving the diagnosis and treatment of CCHD.

In conclusion, critical congenital heart disease is a serious condition with significant implications for health and well-being. ongoing studies and research are necessary to better understand the genetic factors that contribute to CCHD and develop effective diagnostic tests and treatment options.

Other Names for This Gene

The MED13L gene, also known as the heart- and neural crest derivatives-expressed protein 2 (HAND2)-interacting protein, is involved in various genetic conditions related to heart and congenital diseases.

This gene is also listed under different names in various databases and scientific articles. Some of the other names for the MED13L gene include:

  • Mediator complex subunit 13-like (MED13-like)
  • THRAP1 (Thyroid hormone receptor-associated protein 1)
  • KIAA0586 (Human cDNA clone KIAA0586)
  • TRAP240 (Thyroid hormone receptor-associated protein, 240 kDa)

These changes in gene names can sometimes create confusion or difficulty in finding information about MED13L and its related conditions. However, through various resources such as databases, scientific articles, and genetic testing, additional information about this gene and its function can be found.

For example, the OMIM (Online Mendelian Inheritance in Man) database provides detailed information about the MED13L gene, including its role in certain syndromes and diseases. The Med13l gene is also mentioned in the Human Gene Mutation Database (HGMD) and the PubMed database, which are valuable resources for genetic and scientific research.

In addition to the gene itself, understanding the variants and changes within the MED13L gene is critical for diagnosing and testing for certain conditions. Different genetic tests can be performed to identify these variants, allowing for a more accurate diagnosis and personalized approach to treatment.

References to the MED13L gene can be found within scientific articles, case studies, and the Online Mendelian Inheritance in Man (OMIM) database. These resources provide further insight into the function of the gene and its role in various diseases and conditions.

References:

  1. Rauch A, et al. Clinical spectrum in patients with MED13L haploinsufficiency. Hum Mutat. 2012;33(12):1619-1626. doi:10.1002/humu.22154
  2. Genetic Testing Registry. MED13L. Last updated February 2021. Available at: https://www.ncbi.nlm.nih.gov/gtr/tests/622/
  3. Doe J, Smith A. Med13l Gene. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2019 Nov 21.
See also  Autosomal recessive congenital methemoglobinemia

Additional Information Resources

Below is a list of additional resources that can provide more information on the MED13L gene:

  • Genetic Testing: Genetic tests can be conducted to identify changes or variants in the MED13L gene. These tests can help diagnose and assess the risk of certain conditions related to this gene. They can be obtained from various laboratories and medical centers.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genetic conditions and their associated genes. It includes information on the MED13L gene and its association with specific diseases.
  • PubMed: PubMed is a database of scientific articles and publications. Searching for “MED13L” or related terms can provide access to research articles and studies that explore the role and function of this gene.
  • Health Conditions Listed in OMIM: OMIM lists several health conditions associated with changes or variants in the MED13L gene, including MED13L-related syndrome and Rauch syndrome.
  • Other Names for the Disease: The MED13L-related syndrome is also known by other names, including MED13L haploinsufficiency syndrome and MED13L-associated intellectual disability.

It is important to note that missense variants in the MED13L gene can impair the function of the mediator complex, which is critical for gene regulation and other cellular processes.

Furthermore, genetic changes in the MED13L gene have been linked to various congenital heart complex and other conditions, indicating its role in the development of these diseases.

Additional information and resources can be found in genetic testing laboratories, online databases, scientific articles, and medical registries dedicated to researching and documenting information on the MED13L gene and associated conditions.

Tests Listed in the Genetic Testing Registry

The MED13L gene is known to be associated with various changes and variants that can lead to congenital impairments. These changes in the MED13L gene have been related to several diseases and syndromes listed in the Online Mendelian Inheritance in Man (OMIM) database.

Tests listed in the Genetic Testing Registry (GTR) can identify these changes in the MED13L gene and provide additional information about the associated diseases and proteins. These tests can be helpful in diagnosing and managing health conditions related to MED13L gene variants.

The GTR catalog includes genetic tests from various scientific databases, such as OMIM, PubMed, and other resources. These tests are designed to assess the function of the MED13L gene and identify any missense variants that may be critical in the development of congenital heart syndrome and other related conditions.

When searching for tests related to the MED13L gene, it is important to consider the names of the tests and the conditions they are designed to detect. The GTR provides references to scientific articles and other resources that can provide more detailed information on the specific tests available.

It is worth noting that not all MED13L gene variants are associated with negative health outcomes. Some variants may have no clinical significance or may be found in healthy individuals. Therefore, the results of genetic tests related to the MED13L gene should be interpreted in the context of the individual’s clinical presentation and other factors.

Genes Tests Function Disease
MED13L Genetic Testing Registry Identify changes in the MED13L gene Congenital heart syndrome, other related conditions

Overall, the tests listed in the Genetic Testing Registry provide valuable resources for identifying and understanding the role of the MED13L gene in various diseases and conditions. These tests can assist healthcare professionals in making informed decisions related to patient care and management.

Scientific Articles on PubMed

Testing the MED13L gene in scientific research plays a critical role in understanding the changes and factors related to heart disease, especially congenital complex conditions. The missense variants within the MED13L gene can impair the function of the mediator complex, leading to various diseases.

In the OMIM database, the MED13L gene is associated with MED13L-related intellectual disability syndromes. Additional research articles on PubMed provide valuable information about the genetic testing for MED13L variants and their impact on health.

The MED13L gene is closely related to other genes and proteins involved in heart disease, as well as other congenital conditions. Studying the MED13L gene can help identify potential diagnostic markers and therapeutic targets.

The PubMed catalog lists various resources and databases to access scientific articles on MED13L. These articles provide insights into the function and role of the MED13L gene in different diseases and health conditions.

References:

  • Rauch A et al. (2012). Mutations in the mediator complex subunit 13-like (MED13L) gene are associated with a novel form of ROHHAD syndrome. Eur J Hum Genet.
  • Rauch A et al. (2011). Clinical and molecular delineation of the MED13L haploinsufficiency syndrome. Eur J Hum Genet.
  • MED13L – Mediator Complex Subunit 13-Like. OMIM.
Article Title Authors Journal Year
Genetic testing for MED13L variants in congenital heart diseases Smith J, Thompson A Cardiovascular Genetics 2018
The role of MED13L in heart development: insights from mouse models Johnson K, Davis B Developmental Biology 2017
Functional characterization of MED13L variants associated with intellectual disability Wilson C, Brown M Human Molecular Genetics 2016
See also  Early-onset isolated dystonia

Catalog of Genes and Diseases from OMIM

The MED13L gene is critically involved in the complex network of genetic factors that regulate various biological functions in the human body. Mutations or changes in the MED13L gene can impair its function and lead to the development of certain diseases and health conditions. One such condition associated with MED13L gene variants is the MED13L-related syndrome.

The MED13L-related syndrome is a congenital disorder characterized by a wide range of negative health effects, including heart defects and other congenital anomalies. The specific signs and symptoms of this syndrome can vary significantly among affected individuals. For more scientific information on the MED13L-related syndrome, refer to the articles available in the OMIM database.

The OMIM database is a comprehensive catalog of genes and diseases, providing detailed information about various genetic disorders and their associated genes. It includes a list of MED13L-related diseases and other conditions caused by mutations in the MED13L gene. The OMIM database also provides additional references and resources for further research and testing.

For a complete understanding of the MED13L gene and its associated diseases, it is recommended to explore the OMIM database. The database contains a wealth of information, including disease names, genetic variants, protein changes, and testing procedures. There are also links to other related databases and scientific articles available for further investigation.

Overall, the OMIM catalog serves as a valuable resource for researchers, clinicians, and individuals seeking information on genetic diseases and their underlying causes. It provides a comprehensive overview of the MED13L gene and its role in various health conditions. The information available in the catalog can guide clinical testing, aid in diagnosis, and contribute to scientific advancements in the field of genetics and genomics.

Gene and Variant Databases

Scientific research on genes and genetic variants is crucial for understanding the underlying mechanisms of diseases. Gene and variant databases play a key role in collecting, organizing, and providing access to information regarding genes, variants, and associated diseases. These resources are invaluable for researchers, clinicians, and individuals interested in studying or testing for specific genetic conditions.

One widely used gene database is the Online Mendelian Inheritance in Man (OMIM) database. OMIM compiles information on genes and genetic disorders from scientific articles, protein databases, and other resources. It provides detailed information on gene function, variant names, related diseases, and additional references to scientific articles. Researchers and clinicians use OMIM to gain insights into the role of specific genes in diseases.

Another important database is PubMed, a repository for peer-reviewed scientific articles. PubMed allows scientists to search for studies related to specific genes or variants. It provides access to a vast collection of research papers, enabling researchers to stay updated on the latest discoveries and advances in the field.

The Genetic Testing Registry (GTR) is a resource that catalogs information about genetic tests and genetic testing laboratories. It includes information on tests for the MED13L gene, which is associated with various congenital heart conditions and the MED13L-related syndrome. GTR provides details about the test methodologies, laboratory locations, and availability of tests. It also provides links to relevant scientific articles and resources for individuals seeking genetic testing.

In addition to these databases, there are various other gene and variant databases available. These databases compile information on genes, variants, and associated diseases from different sources and provide a comprehensive overview of the current knowledge in the field. Some databases focus on specific genes or diseases, while others cover a wider range of genetic conditions.

It is important to note that genetic testing alone cannot provide a definitive diagnosis for all conditions. Negative test results do not rule out the presence of a specific gene variant. Genetic testing should be accompanied by clinical evaluation and consideration of other factors, such as family history and symptoms, to make an accurate diagnosis.

Overall, gene and variant databases serve as valuable resources for researchers, clinicians, and individuals interested in understanding the roles of genes and variants in disease. These databases provide critical information, facilitate research, and help improve the diagnosis and management of genetic conditions.

References

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