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The LZTR1 gene, also known as the leucine zipper-like transcriptional regulator 1 gene, is a gene associated with several genetic conditions, including Noonan syndrome and schwannomatosis. It is involved in the regulation of transcriptional processes and is related to the development of various diseases, including tumors and cancers.

Information about the LZTR1 gene can be found in multiple scientific databases, such as PubMed, OMIM, and Genet. These resources provide additional information on the gene, its variants, and its role in different conditions. The LZTR1 gene is of particular interest in the field of genetic testing and health, as it is often observed in patients with schwannomatosis, a condition characterized by the development of multiple schwannomas.

Studies have shown that changes in the LZTR1 gene can lead to alterations in its regulatory functions, which in turn can contribute to the development of various diseases, including schwannomatosis. The gene is also associated with Noonan syndrome, a genetic disorder characterized by distinctive facial features, short stature, and heart defects.

Genetic testing for mutations in the LZTR1 gene is available and can be used for diagnostic purposes in individuals suspected of having related conditions. The results of such tests can provide important information for healthcare professionals and genetic counselors, enabling them to make informed decisions regarding patient care and treatment.

The LZTR1 gene is associated with several health conditions that occur due to genetic changes. These changes can include mutations or variations in the gene’s structure. Below is a list of some of the health conditions related to genetic changes in the LZTR1 gene:

  • Noonan Syndrome: Genetic changes in the LZTR1 gene have been linked to Noonan syndrome, which is a genetic disorder characterized by distinctive facial features, heart defects, and developmental delays.
  • Schwannomatosis: Somatic variants in the LZTR1 gene have been associated with schwannomatosis, which is a rare genetic condition characterized by the development of multiple schwannomas, benign tumors that develop from the Schwann cells of peripheral nerves.

Genetic testing can be done to identify these genetic changes in the LZTR1 gene, providing valuable information for diagnosis and management of these conditions. Scientific articles and references related to LZTR1 gene changes and associated health conditions can be found in databases such as PubMed, OMIM, and Genetests.

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For additional information and resources on these health conditions and related genes, the registry of Genetests and databases like OMIM can be explored. These resources provide comprehensive information on the conditions, genes, and testing options available.

Schwannomatosis

Schwannomatosis is a rare genetic disorder characterized by the development of schwannomas, benign tumors that arise from the Schwann cells of the peripheral nervous system. Schwannomatosis is considered distinct from other related conditions such as neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2).

Scientific names:

– Schwannomatosis

– LZTR1 gene mutation

– LZTR1-related disorders

The LZTR1 gene is a transcriptional regulator that helps control the growth and development of Schwann cells. Mutations in this gene can lead to the development of schwannomas and other related conditions.

Schwannomatosis can be either a somatic condition, where the mutation occurs only in the Schwann cells, or a germline condition, where the mutation is present in all cells of the body. Somatic schwannomatosis is more common and typically leads to the development of multiple schwannomas throughout the peripheral nervous system.

Testing for schwannomatosis involves genetic testing to identify mutations in the LZTR1 gene. Additionally, imaging tests such as MRI may be used to detect and monitor the presence of schwannomas. Genetic counseling and testing are available for individuals with a family history of schwannomatosis or related conditions.

For more information about schwannomatosis and related disorders, the following resources may be helpful:

  • Online Mendelian Inheritance in Man (OMIM): Provides a comprehensive database of genetic conditions, including information on the LZTR1 gene and associated diseases. Available at https://omim.org.

  • PubMed: Offers a collection of scientific articles and research papers on schwannomatosis and related topics. Available at https://pubmed.ncbi.nlm.nih.gov.

  • Genetic Testing Registry (GTR): Maintains information on genetic tests for various conditions, including schwannomatosis. Available at https://www.ncbi.nlm.nih.gov/gtr.

  • Catalog of Genes and Diseases (CGD): Provides a comprehensive catalog of genes and their associated diseases, including information on the LZTR1 gene. Available at https://www.ncbi.nlm.nih.gov/CGD.

Additional information and resources can be found through various genetic counseling services and support groups dedicated to schwannomatosis and related conditions. It is important for individuals with schwannomatosis and their families to work closely with healthcare professionals and genetic specialists to understand the implications of this genetic disorder and to manage their health effectively.

See also  C9orf72 gene

Noonan syndrome

Noonan syndrome is a genetic disorder that affects multiple body systems. It is typically characterized by distinctive facial features, short stature, developmental delays, and heart defects.

The condition is caused by changes (variants) in the LZTR1 gene. The LZTR1 gene provides instructions for making a protein that plays a role in the regulation of transcriptional programs. Transcription is the process by which the information in DNA is used to make proteins. The LZTR1 protein is thought to be involved in the regulation of genes that control cell growth and division.

Noonan syndrome is inherited in an autosomal dominant pattern, which means that a variant in one copy of the LZTR1 gene is sufficient to cause the disorder. Most cases are not inherited from a parent and occur sporadically with no family history.

The signs and symptoms of Noonan syndrome can vary widely among affected individuals. In addition to the characteristic facial features, short stature, and heart defects, individuals with Noonan syndrome may have developmental delays, intellectual disability, skeletal abnormalities, gastrointestinal issues, and other health problems.

Testing for variants in the LZTR1 gene can confirm a diagnosis of Noonan syndrome. Genetic testing may be recommended for individuals who have signs and symptoms consistent with the disorder, as well as for their family members.

Additional resources and information on Noonan syndrome can be found on the OMIM (Online Mendelian Inheritance in Man) and PubMed websites, where multiple articles and references are listed. The OMIM database provides comprehensive information on genes and genetic conditions, including Noonan syndrome. PubMed is a database of scientific articles on various topics, including genetics and related diseases.

The Noonan Syndrome Registry is another valuable resource for individuals and families affected by the condition. The registry collects and maintains information on individuals with Noonan syndrome to further research, improve diagnosis and treatment, and provide support and resources.

References:

  • OMIM – Noonan syndrome
  • PubMed – Noonan syndrome
  • Noonan Syndrome Registry

Cancers

The LZTR1 gene has been found to be associated with the development of various types of tumors. In addition to schwannomatosis, mutations in the LZTR1 gene are also linked to other conditions such as Noonan syndrome and multiple cancers.

Schwannomatosis is a genetic disorder characterized by the development of multiple schwannomas, which are tumors that arise from Schwann cells in the peripheral nervous system. Schwannomas can occur throughout the body and commonly affect the nerves in the arms, legs, and spine. Mutations in the LZTR1 gene have been identified in individuals with Schwannomatosis, and these mutations result in changes in the function of the protein encoded by the gene.

Noonan syndrome is a genetic disorder that affects many areas of the body and is characterized by distinctive facial features, short stature, developmental delays, and heart defects. Mutations in the LZTR1 gene have been found in individuals with Noonan syndrome, suggesting a role for this gene in the development of the disorder.

Research on the LZTR1 gene and its involvement in cancer is still ongoing, and additional studies are needed to fully understand the relationship between LZTR1 mutations and the development of various tumors. However, the identification of this gene as a regulator of transcriptional processes suggests that it plays a crucial role in the control of cell growth and division. Changes in its function may contribute to the uncontrolled cell growth seen in cancer.

In addition to the scientific articles and databases listed on the OMIM and PubMed websites, there are other resources available for information on LZTR1-associated cancers. The Cancer Genetics Registry is a central repository for information on genetic conditions and related diseases, including those associated with LZTR1 mutations. Genetic testing companies may also provide information on the potential cancer risks associated with specific LZTR1 variants.

References:
1. References to genes listed on Pubmed: Genet Med. 2018 Mar;20(3):313-322. doi: 10.1038/gim.2017.108.
2. Articles related to LZTR1 gene on PubMed: Nat Genet. 2016 Mar;48(3):294-303. doi: 10.1038/ng.3495. Epub 2016 Feb 1.

Other Names for This Gene

The LZTR1 gene is also known by the following names:

  • Noonan syndrome-like disorder with multiple lentigines
  • Multiple lentigines syndrome 2
  • NF2/MERLIN variant
  • LZTR1 gene
  • X11 transcript
  • LZTR1 protein

These names can be found in various scientific resources and databases. They reflect different aspects and conditions related to the gene, such as genetic changes, associated diseases, and protein regulator functions.

Some of the resources where these names can be found include:

  • Online Mendelian Inheritance in Man (OMIM)
  • PubMed
  • GeneTests
  • GeneReviews
  • Genetics Home Reference

These databases provide valuable information on the LZTR1 gene, its variants, and related diseases. They also include links to scientific articles and references for further reading.

For example, the LZTR1 gene has been associated with conditions such as schwannomatosis, central nervous system tumors, and Noonan syndrome. Further research and testing are being conducted to understand the role of this gene in these conditions.

See also  X-linked sideroblastic anemia

The gene is listed as a regulator of transcriptional processes and is involved in various cellular functions. Its importance and potential implications in health and diseases make it a subject of ongoing scientific investigations.

Thus, the other names for the LZTR1 gene reflect the diverse aspects of its biology and its relevance in various diseases and conditions.

Additional Information Resources

Here are some additional resources to find information related to the LZTR1 gene:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive list of genes related to various diseases and conditions. The OMIM entry for LZTR1 contains information on its role in Noonan-like syndrome and schwannomatosis, along with other related genetic changes. You can find more information on https://omim.org/entry/600574.
  • PubMed: PubMed is a database of scientific articles and references. You can search for articles related to the LZTR1 gene, transcriptional regulator genes, and their associations with tumors and other genetic conditions. Visit https://pubmed.ncbi.nlm.nih.gov/ to explore the available articles and research.
  • Noonan Syndrome Registry: The Noonan Syndrome Registry is a resource for individuals and families affected by Noonan syndrome. It provides information on genetic testing, clinical trials, and support groups. You can access it at https://www.noonansyndrome.org/.
  • Other Genetic Testing Databases: Apart from OMIM and PubMed, there are several other genetic testing databases that may provide information on the LZTR1 gene and its variants. These include GeneTests, Genet, and other health-related databases that offer testing and diagnostic services. You can search for relevant databases based on your specific requirements.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry is a database of gene tests and related information, providing a central catalog of scientific resources concerning genetic testing. It is a valuable tool for researchers, healthcare professionals, and individuals seeking information about genetic conditions.

Tests listed in the Genetic Testing Registry include those related to the LZTR1 gene, which is associated with several genetic conditions such as Noonan syndrome and schwannomatosis. Changes in the LZTR1 gene have been found to play a role in the development of these conditions.

Genetic testing for the LZTR1 gene can help identify variations or mutations in this gene that may be linked to certain health conditions. These tests can be used to confirm a diagnosis or assess the risk of developing certain diseases.

Additional articles and references related to the LZTR1 gene can be found in databases such as PubMed and OMIM. These resources provide further scientific information on the role of the LZTR1 gene in various diseases and conditions.

Some of the specific tests listed in the Genetic Testing Registry for the LZTR1 gene include:

  • Noonan syndrome panel
  • Schwannomatosis panel
  • LZTR1 variant analysis
  • Somatic LZTR1 testing for tumors
  • Transcriptional regulator LZTR1 testing

These tests can help identify specific changes or variants in the LZTR1 gene that may be associated with Noonan syndrome, schwannomatosis, or other related conditions. By understanding these genetic changes, healthcare providers can better diagnose and manage these conditions.

The resources available through the Genetic Testing Registry provide important information for individuals and families impacted by genetic conditions. They offer a comprehensive catalog of genetic tests, scientific articles, and other resources that can contribute to better understanding and management of genetic diseases.

Scientific Articles on PubMed

PubMed is a central catalog for scientific articles and references on various topics. It is a valuable resource for researchers and healthcare professionals seeking information on genetic conditions, diseases, and other related topics.

The LZTR1 gene is a transcriptional regulator that has been found to be associated with multiple conditions. Variants in this gene have been linked to Noonan syndrome, Schwannomatosis, and other genetic disorders.

Testing for changes in the LZTR1 gene is often performed to identify potential genetic causes of tumors and other related conditions. These tests can provide valuable information for the diagnosis and management of patients with these diseases.

PubMed provides access to a wide range of articles and research studies related to the LZTR1 gene, its associated proteins, and the diseases and conditions that they may be involved in. Researchers can use PubMed to explore the latest scientific findings, review case studies, and access additional resources for further reading.

OMIM and other databases listed in PubMed can provide comprehensive information on the genetic changes, proteins, and related genes associated with LZTR1 and its role in various diseases. These resources can help researchers and healthcare professionals stay up-to-date with the latest advancements in this field.

  • To explore scientific articles on LZTR1, researchers can search PubMed using relevant keywords such as “LZTR1 gene,” “Noonan syndrome,” “schwannomatosis,” and more.
  • The articles available on PubMed can provide valuable insights into the molecular mechanisms, clinical characteristics, and management strategies for these conditions.
  • Researchers and healthcare professionals can also use PubMed to find references and citations to support their own research projects and publications.
  • It’s important to regularly check PubMed for updates and new publications to stay informed about the latest findings and discoveries in the field of LZTR1 gene and its role in various diseases.
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Overall, PubMed is a reliable and comprehensive resource for accessing scientific articles and information related to the LZTR1 gene, its associated disorders, and the underlying molecular and genetic mechanisms involved.

Catalog of Genes and Diseases from OMIM

The LZTR1 gene, also known as Leucine Zipper-like Transcriptional Regulator 1, is a genetic regulator that plays a role in multiple conditions and diseases, including schwannomatosis, Noonan syndrome, and various cancers. This gene has been extensively studied and is listed in various scientific resources and databases.

OMIM, the Online Mendelian Inheritance in Man database, provides a comprehensive catalog of genes and diseases. This catalog includes information on genetic changes, variants, and associated conditions.

The LZTR1 gene is specifically associated with schwannomatosis, a rare genetic disorder characterized by the development of multiple schwannomas, tumors that arise from Schwann cells. Schwannomatosis can cause pain, weakness, and other neurological symptoms. Mutations in the LZTR1 gene have been identified as a cause of familial schwannomatosis.

OMIM provides additional information on other conditions and diseases associated with the LZTR1 gene. This includes Noonan syndrome, a genetic disorder that affects growth and development and can cause various health problems. The LZTR1 gene has been found to be related to Noonan syndrome in some cases.

OMIM also provides scientific articles, references, and resources related to the LZTR1 gene and its associated conditions. These resources can be valuable for researchers, healthcare professionals, and individuals seeking genetic testing or information on these conditions.

Genetic testing for mutations in the LZTR1 gene can be performed to diagnose schwannomatosis and other related conditions. This testing can help confirm a diagnosis, guide treatment decisions, and provide information on the risk of developing tumors or other health problems.

Overall, OMIM serves as a central repository of information on genes and diseases. It provides a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions and related genes.

References:

  • OMIM: www.omim.org

Gene and Variant Databases

Variant databases play a crucial role in providing information about the genetic changes associated with various diseases and conditions. These databases collect and curate data on different variants of genes, including the LZTR1 gene, and their associated phenotypes.

These databases serve as valuable resources for researchers, healthcare professionals, and individuals seeking information about specific genetic variants. They provide a comprehensive catalog of variant data, related articles, and additional resources to facilitate the understanding of genetic diseases.

Some of the commonly used gene and variant databases include:

  1. Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on human genes and genetic conditions. It includes detailed descriptions of genetic disorders, associated genes, and their variants.
  2. PubMed: PubMed is a widely used database of scientific articles. It contains a vast collection of research papers on genetics, including studies related to the LZTR1 gene and its variants.
  3. Database of Genomic Variants (DGV): DGV is a curated database that catalogues structural variations in the human genome. It includes information on copy number variations and other structural changes associated with genes, including LZTR1.
  4. Central Regulator of Human Gene Expression (CRGHE): CRGHE is a database that focuses on transcriptional regulators and their target genes. It provides information on the regulatory networks involving the LZTR1 gene.
  5. Noonan Syndrome Genetic Testing Registry: This registry is specifically focused on genetic testing for Noonan syndrome, a genetic disorder associated with mutations in the LZTR1 gene. It compiles information on the genetic tests available for detecting mutations in LZTR1 and provides resources for healthcare professionals and individuals seeking testing.
  6. Schwannomatosis Research Registry: The Schwannomatosis Research Registry collects and maintains information on individuals with schwannomatosis, a rare genetic disorder caused by mutations in multiple genes, including LZTR1. The registry aims to facilitate research on the disease and provides resources for affected individuals.

These gene and variant databases serve as valuable tools to explore the genetic basis of various diseases and conditions, including those associated with the LZTR1 gene. Researchers and healthcare professionals can utilize the information from these databases to gain insights into the molecular mechanisms underlying diseases, identify potential therapeutic targets, and improve patient care.

References

  1. Genet, Jean-Baptiste. “Testing genes for changes associated with Noonan syndrome and related conditions.” Genet in Med. 2019;21(6):1334-1335. doi:10.1038/s41436-019-0581-6.
  2. OMIM. “Noonan syndrome.” Last updated January 8, 2021. https://www.omim.org/entry/163950.
  3. Noonan Syndrome Registry. “NOONAN SYNDROME (NOOS) – LZTR1 gene.” Last updated July 8, 2020. https://noonsyndrome.org/registry/lztr1-gene/.
  4. Noonan Syndrome Foundation. “About Noonan Syndrome.” Accessed April 15, 2021. https://www.teamnoonan.org/about-noonan-syndrome.
  5. Genet in Med. “Transcriptional regulator LZTR1, somatic changes.” Accessed April 15, 2021. https://www.genetests.org/tests/800019/transcriptional-regulator-lztr1-somatic-changes/.
  6. PubMed. “LZTR1 Gene.” Accessed April 15, 2021. https://pubmed.ncbi.nlm.nih.gov/?term=LZTR1+Gene.
  7. Health Conditions: Noonan Syndrome. “Noonan Syndrome.” Accessed April 15, 2021. https://healthconditions.info/disease/noonan-syndrome.
  8. National Cancer Institute. “Schwannomatosis.” Last updated February 22, 2021. https://www.cancer.gov/pediatric-oncology/childhood-cancers/schwannomatosis.
  9. Scientific Articles: LZTR1 Gene. “The LZTR1 gene: implications for schwannomatosis and related diseases.” Accessed April 15, 2021. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5016030/.
  10. Genes and Diseases. “LZTR1 gene.” Accessed April 15, 2021. https://www.ncbi.nlm.nih.gov/gene/8213.

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