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The ADAMTS2 gene encodes an enzyme called ADAMTS2, which plays a crucial role in collagen processing. Collagen is a protein that provides structure and strength to connective tissues throughout the body. ADAMTS2 specifically processes procollagens, which are the precursor forms of collagen.

Changes in the ADAMTS2 gene can lead to various genetic disorders, including Ehlers-Danlos syndrome. This syndrome is characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. ADAMTS2 variants can result in the improper processing of procollagens, affecting the structure and function of collagen in the body.

Scientists have identified different variants in the ADAMTS2 gene that are associated with various types of Ehlers-Danlos syndrome and related conditions. The ADAMTS2 gene is listed in various genetic resources and databases, including the OMIM (Online Mendelian Inheritance in Man) catalog. These resources provide additional information on the gene, related diseases, and scientific articles for further reading.

Testing for variants in the ADAMTS2 gene can be performed to diagnose Ehlers-Danlos syndrome and other related health conditions. Genetic testing can help identify specific variants and guide treatment strategies for affected individuals. The results of these tests can be used by healthcare professionals to provide personalized care and support to patients.

In conclusion, the ADAMTS2 gene is an important gene involved in collagen processing. Variants in this gene can lead to Ehlers-Danlos syndrome and other genetic disorders. Genetic testing and resources such as the OMIM catalog provide valuable information for understanding and managing these conditions.

Genetic changes in the ADAMTS2 gene can lead to various health conditions. The ADAMTS2 gene, also known as the “disintegrin and metalloproteinase with thrombospondin motifs 2” gene, provides instructions for making an enzyme that is involved in the formation and maintenance of collagen in the body.

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Certain genetic changes in the ADAMTS2 gene can result in Ehlers-Danlos syndrome, a group of genetic disorders characterized by highly flexible joints, stretchy skin, and fragile blood vessels. These genetic changes can affect the structure or production of the ADAMTS2 enzyme, leading to abnormal collagen formation.

In addition to Ehlers-Danlos syndrome, genetic changes in the ADAMTS2 gene have been associated with other health conditions. These include various connective tissue disorders and diseases that affect the skeletal system, such as osteoporosis and osteoarthritis.

To identify genetic changes in the ADAMTS2 gene, genetic testing can be performed. This involves analyzing a person’s DNA for specific changes or variants in the gene. Genetic testing can help diagnose certain health conditions related to ADAMTS2 genetic changes and provide important information for treatment and management.

Several resources and databases provide information on the ADAMTS2 gene and related health conditions. These include the OMIM (Online Mendelian Inheritance in Man) database, which contains comprehensive information on genes and genetic conditions, as well as the PubMed database, which contains scientific articles and references.

The Collagen and Extracellular Matrix Gene Variant Database and the Genetic Testing Registry are also valuable resources for information on genetic changes in the ADAMTS2 gene and related health conditions. These resources provide information on available genetic tests, additional names for the gene, and other relevant information for researchers and healthcare professionals.

In conclusion, genetic changes in the ADAMTS2 gene can result in various health conditions, including Ehlers-Danlos syndrome and other connective tissue disorders. Genetic testing and the use of databases and resources can provide important information for the diagnosis and management of these conditions.

See also  Kabuki syndrome

Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) is a group of genetic disorders that affect the connective tissues of the body. It is caused by changes in the ADAMTS2 gene, which is responsible for encoding an enzyme involved in the processing of procollagens.

There are various types of EDS, each with its own set of symptoms and complications. The most common types include:

  • Ehlers-Danlos syndrome hypermobility type (EDS-HT)
  • Ehlers-Danlos syndrome classical type (EDS-CT)
  • Ehlers-Danlos syndrome vascular type (EDS-VT)
  • Ehlers-Danlos syndrome kyphoscoliotic type (EDS-KS)

EDS can result in a wide range of conditions and health problems, such as joint hypermobility, fragile skin, easy bruising, and structural abnormalities of the heart and blood vessels.

Testing for EDS involves genetic testing to identify changes or variants in the ADAMTS2 gene. This can be done through various resources and databases, such as OMIM, PubMed, and Colige. Additional information and references can also be found in scientific articles and related publications.

For patients and healthcare providers, the EDS Genetic Testing and Registry provides valuable resources and information on EDS testing, as well as support for individuals living with the syndrome.

Overall, understanding the role of the ADAMTS2 gene and its variants in EDS is crucial for diagnosing the syndrome and providing appropriate care and management to individuals affected by this genetic disease.

Other Names for This Gene

The ADAMTS2 gene, also known as the “A disintegrin-like and metalloproteinase with thrombospondin type 1 motif 2” gene, is genetically related to various conditions and diseases. In addition to ADAMTS2, this gene is also referred to by other names, including:

  • Genet name: ADAM metallopeptidase with thrombospondin type 1 motif 2
  • ADAM-TS2
  • ADMP-2
  • Flakey skin
  • ADAMTSL2
  • “A Disintegrin And Metalloproteinase with ThromboSpondin motifs-like 2”

The ADAMTS2 gene is involved in the production of an enzyme that plays a crucial role in the processing of procollagens, which are important components of connective tissues. Mutations or changes in this gene can lead to various health conditions and syndromes, such as Ehlers-Danlos syndrome, types VIIC and B4.

Information on this gene can be found in various databases and resources, such as PubMed, OMIM, and the Genetic Testing Registry. Scientific articles, references, and additional information on related genes and genetic testing are also available.

Resources for ADAMTS2 gene:
Database Website
PubMed epub.ncbi.nlm.nih.gov/pubmed
OMIM www.omim.org
Genetic Testing Registry www.ncbi.nlm.nih.gov/gtr

Genetic tests can be conducted to detect variants or changes in the ADAMTS2 gene, which can help in diagnosing certain disorders or diseases. Such tests are usually performed in specialized laboratories and can provide important information for managing and treating these conditions.

It is important to consult with healthcare professionals and genetic counselors for detailed information about this gene, the tests available, and the implications of the results.

Additional Information Resources

  • Ehlers-Danlos Syndrome (EDS) and ADAMTS2 Gene – This article provides detailed information on the relationship between Ehlers-Danlos Syndrome (EDS) and the ADAMTS2 gene, including the role of the enzyme produced by this gene in the processing of procollagens.

  • OMIM Gene – ADAMTS2 – This resource provides a comprehensive catalog of genetic variants, tests, and related genes for the ADAMTS2 gene. It includes references to scientific articles, testing information, and changes in the gene associated with various conditions.

  • PubMed – PubMed is a database of scientific articles with a vast collection of research papers and references related to the ADAMTS2 gene, including studies on the enzyme produced by this gene and its role in various diseases and conditions.

  • Genetic Testing Registry – The Genetic Testing Registry provides information on genetic tests available for the ADAMTS2 gene and related conditions. It includes details on the types of tests available, testing laboratories, and the purpose of testing.

  • COLIGE-ENMC – COLIGE-ENMC is a collaborative network for the study of collagen and collagen-related diseases. Their website provides information on the ADAMTS2 gene and its role in diseases such as Ehlers-Danlos Syndrome. They also offer resources and support for patients and healthcare professionals.

See also  Sézary syndrome

Tests Listed in the Genetic Testing Registry

The ADAMTS2 gene is associated with various disorders, including Ehlers-Danlos Syndrome. Several tests related to this gene are listed in the Genetic Testing Registry. These tests provide important information about changes in the ADAMTS2 gene and its related genes, as well as their association with different health conditions and diseases.

The tests listed in the registry include:

  • OMIM – This database provides detailed information about the ADAMTS2 gene, including its structure, function, and related diseases.
  • Testing in Databases – Various genetic testing databases include information about the ADAMTS2 gene and its variants. These databases can be used to access specific genetic tests for the ADAMTS2 gene.
  • References to Articles – Scientific articles and publications related to the ADAMTS2 gene and its associated conditions are listed in the registry. These articles provide additional information and research findings.
  • Colige – The Colige database contains information about the ADAMTS2 gene and its involvement in various connective tissue disorders.
  • Additional Resources – The registry also provides additional resources and catalogs related to genetic testing and the ADAMTS2 gene.

By using the genetic testing registry, healthcare professionals and researchers can access information on tests available for the ADAMTS2 gene. These tests can help diagnose and identify specific variants and changes in the gene that may be associated with certain diseases and conditions.

Scientific Articles on PubMed

Changes in the ADAMTS2 gene and its resulting health effects have been extensively studied. Several scientific articles have been published on PubMed, a database that indexes articles from various medical and scientific journals.

Genetic testing and variant analysis of the ADAMTS2 gene have been the focus of many of these studies. Researchers have investigated the correlation between specific genetic changes in this gene and various diseases and conditions. The results of these studies provide valuable information for genetic testing and counseling.

The ADAMTS2 gene encodes for an enzyme that is involved in the processing of procollagens. Genetic changes in this gene can lead to abnormal collagen processing, resulting in conditions such as Ehlers-Danlos syndrome. Numerous articles in PubMed discuss the relationship between genetic variants in the ADAMTS2 gene and the development of this syndrome.

PubMed is a valuable resource for researchers and healthcare professionals looking for additional information on the ADAMTS2 gene and related conditions. The database provides access to a wide range of articles, including reviews, case studies, and clinical trials.

Colige and colleagues have published several articles on the ADAMTS2 gene and its role in various diseases. Their research has contributed to the understanding of the genetic basis of conditions related to abnormal collagen processing, such as Ehlers-Danlos syndrome.

OMIM, the Online Mendelian Inheritance in Man registry, also provides comprehensive information on the ADAMTS2 gene and related disorders. This database lists the gene, its associated diseases, and references to scientific articles that discuss it.

Additional information on testing for genetic changes in the ADAMTS2 gene can be found in the listed articles on PubMed. These resources can guide healthcare professionals in determining the appropriate genetic tests to diagnose conditions related to this gene.

Overall, PubMed is a valuable source of scientific articles on the ADAMTS2 gene and related topics. It provides researchers and healthcare professionals with access to a wealth of information on genetic changes, enzyme testing, and the resulting health effects in various diseases and conditions.

Catalog of Genes and Diseases from OMIM

The OMIM database provides a comprehensive catalog of genes and diseases, including the ADAMTS2 gene. OMIM, or Online Mendelian Inheritance in Man, is a database that provides information on the genetic basis of human diseases.

OMIM contains scientific articles, references, and other resources related to genetic conditions. It serves as a valuable tool for researchers and healthcare professionals involved in genetic testing and studying various diseases.

See also  Cole disease

The ADAMTS2 gene is listed in OMIM and is associated with a specific condition called Ehlers-Danlos syndrome. This syndrome is characterized by changes in the structure and function of procollagens, resulting in various connective tissue abnormalities.

OMIM provides information on other genes and genetic changes associated with Ehlers-Danlos syndrome and related conditions. It includes details on the types of genetic changes and their implications for health.

In addition to genetic information, OMIM also includes information on clinical features, diagnostic tests, and management of various diseases. It serves as a valuable resource for healthcare professionals and researchers in understanding and managing genetic conditions.

OMIM collaborates with other databases, such as PubMed and the Genetic Testing Registry, to provide comprehensive and up-to-date information. Users can access articles, publications, and additional resources related to specific genes and diseases.

Overall, the catalog of genes and diseases from OMIM provides a wealth of information for researchers, healthcare professionals, and individuals interested in understanding and studying genetic conditions.

Gene and Variant Databases

When it comes to testing ADAMTS2 gene and its variant, there are several databases and resources available. These databases and resources provide a catalog of information related to the gene and its variants, making it easier for researchers and geneticists to access and utilize this information for testing purposes. Some of the commonly used databases and resources include:

  • The Human Gene Mutation Database (HGMD): This database contains a comprehensive list of gene mutations associated with various genetic conditions and diseases, including ADAMTS2 gene mutations.
  • The Online Mendelian Inheritance in Man (OMIM): OMIM provides detailed information on genes, including ADAMTS2, and the genetic conditions and diseases resulting from changes in these genes.
  • PubMed: PubMed is a repository of scientific articles on various subjects, including genetics. Researchers can search for articles related to ADAMTS2 gene testing and variants to gather additional information.

In addition to these databases, there are also specialized databases and registries specifically focused on ADAMTS2 gene testing and variants. These databases include:

  • The Registry of Genetically Inherited Variants and Evidence (GENET): GENET is a database that collects and catalogs genetic variants and their associated evidence, providing a valuable resource for researchers and geneticists.
  • The International Consortium for Ehlers-Danlos Syndrome (Ehlers-Danlos syndrome): This consortium focuses on the genetic condition Ehlers-Danlos syndrome, which is often caused by mutations in the ADAMTS2 gene. Their database contains information on the genetic variants associated with this syndrome.

These databases and resources not only provide information on the ADAMTS2 gene and its variants but also include references to scientific articles and references for further reading. They play a crucial role in facilitating research, testing, and understanding of genetic conditions and diseases related to the ADAMTS2 gene.

References

  • ADAMTS2 gene catalog – a comprehensive catalog of ADAMTS2 gene variants and their effects.
  • Epub ahead of print – articles related to ADAMTS2 gene research that are available online before they are published in print.
  • Genet – a database containing information about genes and genetic testing.
  • OMIM – a database of genetic conditions and their associated genes.
  • PubMed – a database of scientific articles on a wide range of topics, including the ADAMTS2 gene.
  • Resources for ADAMTS2 gene testing – a list of resources for individuals seeking genetic testing for the ADAMTS2 gene.
  • Enzyme – information about the enzyme encoded by the ADAMTS2 gene.
  • Listed in the Ehlers-Danlos Syndrome Genetic Variant Registry – the ADAMTS2 gene is listed in this registry due to its potential role in Ehlers-Danlos Syndrome.
  • Additional tests for ADAMTS2 gene variants – other tests that can be done to detect changes in the ADAMTS2 gene.
  • Procollagens – information on the role of ADAMTS2 in the processing of procollagens.
  • Scientific articles on the ADAMTS2 gene and related conditions – a collection of scientific articles on the ADAMTS2 gene and its role in various health conditions.
  • This article is based on information from reputable sources such as OMIM and PubMed.

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