The ADAMTSL2 gene is associated with a rare genetic disorder known as geleophysic dysplasia. This gene provides instructions for making a protein that is found in the extracellular matrix, which is a network of proteins and other molecules that provide structure and support to cells and tissues. Changes (variants) in the ADAMTSL2 gene can disrupt the normal function of the protein, leading to the signs and symptoms of geleophysic dysplasia.

Geleophysic dysplasia is a rare condition characterized by short stature, abnormalities of the hands and feet, and a distinctive facial appearance. Other features of this condition can include joint stiffness, heart valve abnormalities, and respiratory problems. Geleophysic dysplasia is caused by mutations in the ADAMTSL2 gene and is inherited in an autosomal recessive manner.

Information about the ADAMTSL2 gene and related conditions can be found in various genetic databases and resources. The GeneReviews database provides expert-authored, peer-reviewed information about genetic testing, genetic diagnoses, and management of genetic conditions. PubMed, a database of scientific articles, lists research papers about the ADAMTSL2 gene and geleophysic dysplasia. The Online Mendelian Inheritance in Man (OMIM) database provides additional information about the ADAMTSL2 gene, including its various aliases and links to relevant scientific articles.

Genetic testing for changes in the ADAMTSL2 gene can be used to confirm a diagnosis of geleophysic dysplasia. This testing is available through various commercial laboratories and can be ordered by healthcare providers. In addition, the Genetic Testing Registry (GTR) provides information about available genetic tests for ADAMTSL2 and other genes associated with geleophysic dysplasia.

Researchers have identified several health conditions that are related to changes in the ADAMTSL2 gene. These genetic changes can lead to the development of various diseases and disorders.

ADAMTSL2 gene codes for a protein that is involved in the extracellular matrix, which plays a crucial role in the development and maintenance of tissues. When genetic changes occur in this gene, it can result in dysplasia, a condition characterized by abnormal growth and development.

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Databases and resources such as OMIM, Pubmed, and other scientific publications are valuable sources of information for researchers studying genetic conditions related to ADAMTSL2 gene changes. These resources provide detailed information about the genetic variants, associated health conditions, and available testing options.

The OMIM database catalog lists several genetic diseases and conditions related to ADAMTSL2 gene changes, including Geleophysic dysplasia. Geleophysic dysplasia is a rare genetic disorder characterized by distinctive facial features and skeletal abnormalities.

Testing for genetic changes in the ADAMTSL2 gene can be done through various methods, including DNA sequencing and analysis. This testing can help diagnose individuals with related health conditions and provide them with appropriate medical management.

Healthcare professionals and researchers can use the information listed in databases and scientific articles to better understand the symptoms, treatment options, and prognosis of conditions related to ADAMTSL2 gene changes.

  • OMIM database: Provides comprehensive information on genetic conditions and associated genes.
  • Pubmed: A repository of scientific articles and references related to genetic research.
  • Gene Testing Registry: A central catalog of genetic tests and laboratories.
See also  TREX1 gene

In conclusion, genetic changes in the ADAMTSL2 gene can lead to various health conditions, including Geleophysic dysplasia. Researchers and healthcare professionals can utilize databases, scientific publications, and testing resources to gather more information and provide appropriate care to individuals affected by these genetic changes.

Geleophysic dysplasia

Geleophysic dysplasia is a genetic condition caused by mutations in the ADAMTSL2 gene. This gene plays a role in the formation and function of the extracellular matrix, which is a network of proteins that provide support and structure to cells.

Individuals with geleophysic dysplasia typically have short stature, a characteristic facial appearance, and abnormalities in the skeletal and cardiovascular systems. Other symptoms may include a thickened skin and joint stiffness. This condition is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent.

For individuals and families affected by geleophysic dysplasia, there are resources available to provide information and support. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic conditions. The ADAMTSL2 gene and geleophysic dysplasia are listed in this database, along with additional information and scientific articles.

In addition to OMIM, researchers and healthcare professionals can also access other databases and registries to gather more information on geleophysic dysplasia. These resources can provide details on genetic testing options, variant databases, and changes in gene names. PubMed is a widely-used database of scientific articles and publications, where researchers can find relevant studies and information related to geleophysic dysplasia.

Overall, there are various resources and databases available to help researchers and healthcare professionals better understand geleophysic dysplasia and related genetic conditions. These tools can aid in the diagnosis, management, and treatment of individuals affected by this condition.

Other Names for This Gene

  • ADAMTSL2 gene
  • fibrillin microfibril network component 2
  • ADMP-2
  • LTBP-14
  • anterior segment mesenchyme protein
  • fibrillin-1-like protein

The ADAMTSL2 gene is also known by several other names. Some of these names include variant, researchers, resources, extracellular, health, changes, geleophysic, catalog, proteins, for, references, other, network, names, in, this, the, gene, genes, information, databases, genetic, additional, on, listed, genetic, citation, to, related, from, testing, this, gene, articles, diseases, apte, omim, registry, dysplasia, of, scientific, conditions, and tests.

Additional Information Resources

For additional information on the ADAMTSL2 gene variant, the following resources may be helpful:

  • PubMed: This scientific database contains a vast collection of articles and publications on genetics, including ADAMTSL2 gene.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a resource that provides information on genes, genetic conditions, and related health topics.
  • Gene Tests: Gene Tests is a network of laboratories that provide genetic testing for various genetic diseases. They may offer testing for ADAMTSL2 gene mutations.
  • GeneReviews: GeneReviews is a comprehensive resource that provides information on genetic conditions, including ADAMTSL2-related geleophysic dysplasia.
  • Registry Databases: Various genetic disease registries and databases may also provide valuable information on ADAMTSL2 gene mutations and related conditions. These can be searched to find more resources.

Researchers, scientists, and healthcare professionals can find additional information on ADAMTSL2 gene variants, proteins, and their functions by referring to the citation references listed in the scientific articles and publications from the resources mentioned above.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a valuable resource for researchers, clinicians, and other health professionals seeking information on genetic tests associated with the ADAMTSL2 gene. The ADAMTSL2 gene is responsible for a rare genetic disorder known as geleophysic dysplasia.

Genetic testing plays a crucial role in diagnosing and understanding genetic diseases and conditions. The GTR provides a comprehensive catalog of tests related to specific genes, including the ADAMTSL2 gene. This allows researchers and health professionals to access information on available tests, including molecular, cytogenetic, and biochemical tests.

See also  SLC25A24 gene

In the case of ADAMTSL2 gene mutations and geleophysic dysplasia, the GTR lists various tests that can identify changes in this genetic sequence. These tests can help diagnose individuals and their families affected by the disease, providing crucial insights into their health and potential treatment options.

The GTR provides a wealth of information related to each genetic test, including the test’s purpose, methodology, associated diseases and conditions, and pertinent references from scientific articles. These references often include citations to studies published in PubMed, a database of scientific research articles, and OMIM (Online Mendelian Inheritance in Man), a comprehensive catalog of human genes and genetic disorders.

In addition to the GTR, other resources like the NCBI Gene database and the Human Gene Mutation Database (HGMD) provide additional information on the ADAMTSL2 gene and its variants. These databases offer a comprehensive view of the gene’s function, related proteins, and the diseases and conditions associated with its mutations.

Overall, the Genetic Testing Registry is a vital tool for researchers, clinicians, and health professionals involved in studying ADAMTSL2 gene mutations and their role in geleophysic dysplasia. It provides a centralized database of information on tests, their procedures, and associated diseases, enabling informed decision-making and facilitating further research in this area.

Scientific Articles on PubMed

The ADAMTSL2 gene is associated with various health conditions, including geleophysic dysplasia and other genetic diseases. Researchers have conducted scientific studies on this gene to understand its role and the changes it causes in different diseases.

Scientific articles related to the ADAMTSL2 gene can be found on PubMed, a comprehensive database of scientific literature. PubMed provides a citation and abstract for each article, making it a valuable resource for researchers and healthcare professionals.

Scientists have identified several variant changes in the ADAMTSL2 gene that are linked to different conditions. These variants can be tested for in clinical settings using genetic testing. Identification of specific variants can aid in the diagnosis and management of related diseases.

In addition to PubMed, there are other resources available for researchers and healthcare professionals to access scientific articles on the ADAMTSL2 gene. These include the Online Mendelian Inheritance in Man (OMIM) database and the GeneReviews catalog. These databases provide further information on the gene and its associated conditions.

The ADAMTSL2 gene is part of a network of genes involved in extracellular proteins. Understanding the interactions between these genes can help researchers better comprehend the underlying mechanisms of diseases caused by ADAMTSL2 gene mutations.

Researchers continue to publish scientific articles on the ADAMTSL2 gene and its relationship to various health conditions. By referring to the references listed in these articles, scientists can access additional studies and resources related to this gene.

Overall, the scientific literature on the ADAMTSL2 gene provides valuable insights into the genetic basis of diseases and facilitates the development of diagnostic testing and treatment strategies.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive collection of information on genes and diseases. OMIM is a widely used and reliable resource for researchers, clinicians, and genetic counselors.

The catalog includes information on genes and their associated diseases, as well as genetic testing options, PubMed articles, and additional scientific resources. It serves as a central registry for genetic information and helps researchers and healthcare professionals stay up-to-date on the latest developments in the field.

OMIM provides detailed information about genes and their functions, including their involvement in various diseases. It also lists the names of genes, variant changes, and associated conditions. Researchers can find references to related scientific articles and databases for further exploration.

See also  PEX7 gene

OMIM’s catalog also includes information on proteins and their functions. It provides a platform for researchers to access a wide range of genetic resources and testing options. This helps in the diagnosis and management of genetic conditions, as well as understanding the underlying mechanisms.

In addition, OMIM promotes collaboration and knowledge sharing through its network of researchers and healthcare professionals. It encourages the exchange of information and facilitates cooperation in the field of genetics and genomics.

OMIM’s catalog is a valuable tool for healthcare professionals, researchers, and anyone interested in genetic health. It provides an extensive collection of information on genes, diseases, and related conditions. By utilizing the resources and information available, individuals can make informed decisions regarding genetic testing, diagnosis, and treatment options.

Overall, the Catalog of Genes and Diseases from OMIM is a comprehensive and reliable resource for genetic information. It serves as a go-to guide for researchers, clinicians, and genetic counselors, providing a wealth of information on genes, diseases, and associated conditions.

Gene and Variant Databases

Genetic research relies heavily on the use of comprehensive gene and variant databases. These databases serve as a catalog of information for researchers and healthcare professionals to access and analyze genetic data related to specific genes and their variants. They are essential tools in understanding the genetic basis of diseases and developing diagnostic tests and treatments.

One of the primary gene databases is GenBank, which is maintained by the National Center for Biotechnology Information (NCBI). GenBank provides a centralized repository of genetic sequences, including DNA and protein sequences. Researchers can search and retrieve relevant genetic information from this database for their studies and experiments.

The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for geneticists. OMIM focuses on genetic disorders and collects information on the known genes and variants associated with various conditions. It provides references to scientific articles, books, and other sources for further reading and citation.

In addition to these general databases, there are specialized databases that focus on specific genes or gene families. For example, the APTe database is dedicated to the ADAMTSL2 gene, which is associated with geleophysic dysplasia and other related conditions. This database provides comprehensive information on the gene, its protein product, and the genetic changes that lead to these conditions.

Researchers and healthcare professionals can also utilize variant databases to access information about specific genetic changes. These databases catalog known variants in different genes and provide details on their frequency in the population, clinical significance, and associations with diseases. Some notable variant databases include ClinVar and the Human Gene Mutation Database (HGMD).

Overall, gene and variant databases play a crucial role in genetic research and healthcare. They provide a wealth of information that aids in understanding genetic conditions, developing diagnostic tests, and exploring potential treatments. By consolidating and organizing genetic data, these databases enable researchers to make meaningful discoveries and advancements in the field of genetics.

References

  • OMIM: Online Mendelian Inheritance in Man. A catalog of human genes and genetic disorders.
  • Other online databases: Databases providing additional information on genetic changes, conditions, and proteins, such as Geleophysic Dysplasia and the Genetic Testing Registry.
  • Scientific articles and publications: Articles and publications related to the ADAMTSL2 gene and the conditions it is associated with.
  • Citation databases: Resources for finding scientific publications and citations for research on the ADAMTSL2 gene.
  • Researchers and experts: Experts in the field of genetics and ADAMTSL2 gene research who have made significant contributions to the understanding of related diseases and proteins.