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The IDS gene, also known as the iduronate 2-sulfatase gene, is a scientific discovery that has revolutionized our understanding of genetic conditions. This gene is responsible for the production of the enzyme iduronate 2-sulfatase, which plays a crucial role in breaking down certain complex molecules called mucopolysaccharides. Mutations or variants in the IDS gene can lead to a condition known as mucopolysaccharidosis type II (MPS II) or Hunter syndrome.

Scientists have conducted extensive tests and research on the IDS gene to better understand the mutations and variants associated with MPS II. Numerous articles and resources have been cataloged and listed in databases such as PubMed, OMIM, and the IDS gene registry, providing valuable information on this type of genetic syndrome. These databases serve as references for medical professionals and researchers seeking information on MPS II and related conditions.

Genetic testing for the IDS gene allows for the identification of mutations and variants that cause MPS II. This testing can help diagnose patients with the syndrome and provide important information for their health and treatment. In addition, studying the IDS gene and its various mutations can shed light on other conditions related to the breakdown of mucopolysaccharides, such as dermatan sulfate-related diseases. The IDS gene serves as a crucial point of reference for researchers and medical professionals in the field of genetic diseases.

Overall, the discovery and study of the IDS gene have significantly contributed to our understanding of genetic conditions and the role of enzymes in health and disease. Through extensive research and testing, scientists continue to explore the various mutations and variants of the IDS gene, providing valuable knowledge and resources for the medical community.

Genetic changes can have significant effects on an individual’s health. There are various health conditions that have been identified to be related to genetic changes. These conditions are often caused by specific variants or mutations in genes that can lead to a variety of diseases.

One example of a genetic condition related to genetic changes is mucopolysaccharidosis type II, also known as Hunter syndrome. This condition is caused by mutations in the IDS gene, which is responsible for producing an enzyme called iduronate 2-sulfatase. The absence or malfunction of this enzyme leads to the buildup of dermatan and heparan sulfate in the body, causing various symptoms and health problems.

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Information about genetic changes, including specific variants and their associated health conditions, can be found in various databases and resources. One such database is PubMed, where articles related to genetic changes and their effects on health are listed. The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource that provides detailed information on genetic conditions and the genes involved.

In addition to these databases, there are also registries and catalogs dedicated to specific genetic conditions. These resources provide comprehensive information on the names of genetic changes, associated health conditions, and available testing and diagnostic options. For example, the Scarpa database is a registry specifically focused on genetic changes related to mucopolysaccharidosis and provides information on genetic testing and available treatments.

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It is important for individuals and healthcare providers to have access to this information to better understand the genetic basis of certain health conditions and to facilitate accurate diagnosis and treatment. Genetic testing is often recommended for individuals with suspected genetic changes or conditions, as it can provide valuable information for clinical management and counseling.

By studying genetic changes and their effects on health, researchers and healthcare professionals can continue to improve our understanding of genetic diseases and develop more effective treatments and interventions.

Mucopolysaccharidosis type II

Mucopolysaccharidosis type II, also known as Hunter syndrome, is a genetic disorder caused by mutations in the IDS gene. This gene is responsible for the production of an enzyme called iduronate-2-sulfatase, which is necessary for the breakdown of certain mucopolysaccharides in the body. Without this enzyme, these substances build up and cause a range of symptoms and health problems associated with the syndrome.

There are several different variants of the IDS gene that can result in mucopolysaccharidosis type II. Each variant has its own specific set of mutations, leading to different symptoms and severity of the disease. The most common variant is the missense mutation, but other types of mutations can also occur.

To obtain more information about this condition and the genetic changes associated with it, you can refer to various resources and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases contain scientific articles, genetic testing information, and references for further reading on mucopolysaccharidosis type II and related genetic conditions.

In addition to genetic testing, there are also other diagnostic tests available for mucopolysaccharidosis type II, such as enzyme activity testing and biomarker analysis. These tests can help confirm a diagnosis and assess the severity of the disease.

For individuals diagnosed with mucopolysaccharidosis type II, there are several resources available to support their health and well-being. These include specialized medical centers, patient registries, and support groups. These resources can provide additional information, guidance, and assistance for individuals and their families.

Overall, understanding the genetic basis of mucopolysaccharidosis type II and utilizing available resources and testing methods can help improve the diagnosis, management, and treatment of this syndrome.

Other Names for This Gene

IDS gene is also known by other names:

  • Dermatan sulfatase gene: This gene is involved in the production of an enzyme called dermatan sulfatase, which is responsible for breaking down a compound called dermatan sulfate in the body. Changes (mutations) in this gene can lead to a deficiency of the enzyme, causing the accumulation of dermatan sulfate and resulting in the development of mucopolysaccharidosis type II (MPS II) or Hunter syndrome.

  • Gene associated with mucopolysaccharidosis type II: The IDS gene is closely related to the development of mucopolysaccharidosis type II, which is a genetic disorder characterized by the buildup of dermatan sulfate in the body. This condition can lead to various health problems and affects multiple organs and tissues.

  • Scarpa gene: IDS is sometimes referred to as the Scarpa gene, named after the Italian physician Antonio Scarpa who made significant contributions to the field of anatomy and pathology.

Additional resources for information on this gene and related genetic testing can be found in the following databases and registries:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the IDS gene, its associated conditions, and the genetic changes (mutations) that can occur.

  • PubMed: PubMed is a database of scientific articles and references. It contains numerous research papers and studies on the IDS gene, mucopolysaccharidosis type II, and related topics.

  • Genetic Testing Registry (GTR): GTR is a central repository of genetic testing information. It provides access to various genetic tests and laboratories that offer testing for genetic conditions, including mucopolysaccharidosis type II caused by mutations in the IDS gene.

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Additional Information Resources

For additional information on the IDS gene, testing, and related resources, you can refer to the following:

  • Pubmed: A scientific database that offers a vast collection of articles, research papers, and other publications on the IDS gene, mutations, and related diseases.
  • OMIM: Online Mendelian Inheritance in Man is a comprehensive genetic database that provides information on genes, genetic conditions, and the associated phenotypes.
  • Genetic Testing Registry: A resource that offers information on genetic tests and the laboratories that provide them. It includes information on the availability, methods, and clinical validity of the tests.
  • GeneDx: A genetic testing company that offers a variety of tests, including tests for the IDS gene and related diseases.
  • Health-Related Websites: Websites like Dermatan, Scarpa, and others provide information on mucopolysaccharidosis type II and related conditions, including genetic changes, symptoms, and treatment options.

In addition to these resources, there are also various scientific articles, genetic variant databases, and genetic syndrome registries that can provide further information on the IDS gene and related conditions. It is recommended to consult these resources to gain a comprehensive understanding of the gene and its implications.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry is a database that provides information about genetic tests for a variety of health conditions. This includes tests for genetic changes, mutations, and variants in genes related to different diseases and syndromes.

In relation to the IDS gene and Scarpa Syndrome, the Genetic Testing Registry lists the following tests:

  • Mucopolysaccharidosis II Gene: This test identifies changes in the IDS gene that can lead to Scarpa Syndrome or other related conditions.
  • DermaTAN Syndrome Gene: This test detects mutations in genes associated with DermaTAN Syndrome, a condition related to Scarpa Syndrome.
  • Other Genetic Tests: The Genetic Testing Registry also provides information on additional genetic tests that may be relevant to the diagnosis and management of Scarpa Syndrome, such as tests for related genes or conditions.

For more information on these tests, including the scientific references, articles, and databases from which the information is derived, you can visit the Genetic Testing Registry at genetic_testing_registry.gov. The registry provides a comprehensive catalog of tests and serves as a valuable resource for healthcare professionals and individuals seeking genetic testing information.

It is important to consult with a healthcare provider or genetic counselor for guidance on the appropriateness and interpretation of genetic testing results.

Scientific Articles on PubMed

PubMed provides a comprehensive list of scientific articles related to genetic mutations in the IDS gene and type II mucopolysaccharidosis. These articles offer valuable information on testing, genetic changes, and health conditions associated with this gene.

Here are some additional resources available on PubMed for further research:

  • OMIM: OMIM (Online Mendelian Inheritance in Man) provides a catalog of genetic conditions and the associated genes, including mucopolysaccharidosis type II.
  • Scarpa’s Database: Scarpa’s Database is a registry of mutations in genes related to mucopolysaccharidosis and other genetic diseases.
  • Genetic Testing Registry: The Genetic Testing Registry offers information on genetic tests available for the IDS gene and other related genes.
  • PubMed Central: PubMed Central is a free digital archive of biomedical and life sciences journal literature, including scientific articles on mucopolysaccharidosis type II and genetic mutations in the IDS gene.
  • References in scientific articles: Many scientific articles on PubMed include references to other related articles, providing a wealth of information on the topic.

By exploring these databases and scientific articles on PubMed, researchers and healthcare professionals can access up-to-date and reliable information on genetic mutations, testing, and related health conditions associated with the IDS gene.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive resource that catalogs genes and diseases. It provides valuable genetic information, including the genetic changes associated with various diseases. This catalog serves as a valuable tool for researchers, healthcare professionals, and individuals seeking to understand the genetic basis of diseases.

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The OMIM catalog lists a wide range of genes and diseases, including Scarpa syndrome and mucopolysaccharidosis. Each disease listed in the catalog is accompanied by additional scientific resources, such as references to scientific articles and databases for genetic testing. This information helps researchers and healthcare professionals stay updated on the latest advancements in genetic research.

One valuable feature of the OMIM catalog is its organization by disease type. For example, users can search for diseases related to dermatan sulfate, such as dermatan sulfate proteoglycan deficiency. By categorizing diseases in this way, it becomes easier to navigate the vast amount of genetic information available in the catalog.

The OMIM catalog also provides information on specific genes associated with diseases. For instance, it lists the changes in the gene IDS as being responsible for mucopolysaccharidosis type II. This level of detail allows researchers and healthcare professionals to better understand the underlying genetic mechanisms of diseases.

In addition to gene and disease information, the OMIM catalog also provides a registry of genetic variants. This registry helps researchers and healthcare professionals identify mutations and variants associated with specific diseases. By tracking these variations, experts can better understand the genetic basis of diseases and develop more effective diagnostic tests and treatments.

Overall, the OMIM catalog serves as a vital resource for anyone interested in genetics and disease. With its extensive collection of genes, diseases, scientific references, and genetic testing resources, the catalog is a go-to source for those seeking genetic information and staying up-to-date with the latest advancements in the field.

Gene and Variant Databases

When it comes to genetic testing, there are several databases available that provide valuable information on genes and variants. These databases are essential resources for researchers, healthcare professionals, and individuals interested in genetic testing.

One of the most well-known gene and variant databases is the Human Gene Mutation Database (HGMD). This database collects and catalogs mutations of human genes from scientific articles, references, and other sources. It provides comprehensive information on genetic changes associated with various diseases and conditions.

For genetic testing related to mucopolysaccharidosis type II (MPS II), the IDS gene is of particular interest. This gene is responsible for producing an enzyme called iduronate 2-sulfatase, which is essential for the breakdown of molecules called dermatan and heparan sulfate. Mutations in the IDS gene lead to the accumulation of these molecules, causing health problems associated with MPS II.

In addition to HGMD, there are other databases and resources available for gene and variant information. The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides detailed information on genetic conditions and genes. It includes information on the IDS gene, MPS II, and other related syndromes.

The Genetic Testing Registry (GTR) is another valuable resource that provides information on genetic tests available for different conditions. It lists the type of tests, laboratories offering the tests, and additional information on the genetic condition being tested.

Scientific articles and reviews published in PubMed also serve as important sources of information on genes and variants. Researchers and healthcare professionals can find the latest research and discoveries related to the IDS gene and mucopolysaccharidosis type II.

Overall, gene and variant databases, such as HGMD, OMIM, and GTR, along with scientific articles and references, provide vital information on genetic mutations, genes, and associated health conditions. These resources play a crucial role in advancing our understanding of genetic diseases and improving genetic testing and healthcare.

References

  • Genetic changes in the IDS gene – OMIM
  • Additional resources for genetic changes in the IDS gene – OMIM
  • Derma

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