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The SGSH gene, also known as the sulphamidase gene, is a gene that is associated with the development of Sanfilippo syndrome type IIIA. Sanfilippo syndrome is a group of inherited diseases that are caused by genetic changes in specific genes. These changes result in a deficiency or absence of the enzyme sulphamidase, which is responsible for breaking down a complex sugar molecule called heparan sulfate.

The SGSH gene is listed in various genetic databases, including the Online Mendelian Inheritance in Man (OMIM) and PubMed. These databases provide additional information on the gene, its variants, and the related diseases. Additionally, the SGSH gene is included in the registry of genes and variants associated with specific conditions.

Testing for genetic changes in the SGSH gene can be conducted to diagnose Sanfilippo syndrome type IIIA. There are different tests available, such as DNA sequencing, to identify changes in the gene that may be causing the disease. Health professionals can refer to scientific articles, references, and resources for more information on testing and the SGSH gene.

Genetic changes related to the SGSH gene can lead to various health conditions, including mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). These genetic changes result in a deficiency of the enzyme sulfamidase, which is responsible for breaking down a large sugar molecule called heparan sulfate.

Mucopolysaccharidosis type IIIA is a rare inherited disorder that primarily affects the central nervous system. It is characterized by progressive neurodegeneration, leading to developmental delay, cognitive decline, and behavioral problems. The severity of symptoms can vary widely among affected individuals.

To diagnose mucopolysaccharidosis type IIIA and other related diseases, genetic testing is often performed. This testing can identify changes in the SGSH gene and other genes associated with these conditions. Genetic tests can help confirm a diagnosis and provide information to guide treatment and management.

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Additional information and resources on health conditions related to genetic changes in the SGSH gene can be found in various databases and registries. Some of these resources include OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and the SGSH gene entry in the Catalog of Genes and Diseases. These resources can provide detailed information on the genetic variants, associated health conditions, and available testing options.

It is important to note that the information provided here is a general overview and may not include all possible health conditions related to genetic changes in the SGSH gene. Therefore, for a comprehensive understanding of these conditions, it is recommended to consult with medical professionals and refer to the latest research and scientific literature.

References:

Mucopolysaccharidosis type III

Mucopolysaccharidosis type III, also known as Sanfilippo syndrome, is a rare genetic disorder that affects the metabolism of complex sugars called mucopolysaccharides.

There are four subtypes of mucopolysaccharidosis type III, denoted as type IIIA, IIIB, IIIC, and IIID, each caused by mutations in different genes. Mutations in the SGSH gene are responsible for type IIIA Sanfilippo syndrome.

The SGSH gene provides instructions for making an enzyme called heparan N-sulfatase (sulfamidase). This enzyme is involved in the breakdown of a complex sugar called heparan sulfate. In individuals with SGSH gene mutations, sulfamidase activity is reduced or absent, leading to the accumulation of heparan sulfate in cells and tissues throughout the body.

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Individuals with mucopolysaccharidosis type IIIA may experience progressive intellectual disability, developmental regression, behavioral problems, sleep disturbances, and physical issues such as joint stiffness and muscle weakness. The severity and specific symptoms can vary widely among affected individuals.

Genetic testing, such as sequencing of the SGSH gene, can confirm a diagnosis of mucopolysaccharidosis type IIIA. Additional laboratory tests may be done to measure sulfamidase activity or the level of heparan sulfate in the urine or blood.

There are currently no approved treatments for mucopolysaccharidosis type IIIA, but management focuses on supportive care and addressing specific symptoms. Research efforts are ongoing to develop potential therapies for this condition.

Resources and Information for Mucopolysaccharidosis Type IIIA

  • The National Organization for Rare Disorders (NORD) provides information and resources for individuals with mucopolysaccharidosis type IIIA and their families.
  • The Sanfilippo Syndrome and Mucopolysaccharidosis Type III Registry is a database that collects information on individuals affected by the condition to support research and advance understanding of the disease.
  • The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes, genetic conditions, and the relationships between them. The OMIM entry for mucopolysaccharidosis type IIIA is listed under the SGSH gene.
  • The PubMed database contains scientific articles and research papers on mucopolysaccharidosis type IIIA and related topics.

For additional information about mucopolysaccharidosis type IIIA, including support resources, genetic testing options, and current research, it is recommended to consult these databases and references.

Other Names for This Gene

  • Sulphamidase
  • SGSH
  • Sanfilippo syndrome, type IIIA
  • Mucopolysaccharidosis type IIIA

Other names for this gene include:

  • Sulfate sugar hydrolase
  • Sanfilippo syndrome IIIA
  • SGSH1
  • AMFS
  • HNS
  • NAGLU
  • N-acetylglucosaminidase
  • STP
  • acetylformylglucosaminidase
  • acetylglucosaminidase, N-acetyl-, Slc35a2

There are additional names and related terms listed in scientific literature, genetic databases, and resources such as OMIM. Use additional resources for the most current information about this gene.

Other conditions related to changes in this gene include mucopolysaccharidosis type IIIB and sulfamidase deficiency. Testing for changes in this gene may be available for these additional conditions. Information in the Gene Testing Registry can be found by searching for these condition terms in the registry. Or use “Sulphamidase” or “SGSH” as your search terms to find testing information for this gene.

Additional Information Resources

  • Sanfilippo Syndrome (Mucopolysaccharidosis III) – SGSH Gene: This variant is related to the SGSH gene and is associated with Sanfilippo Syndrome, also known as Mucopolysaccharidosis IIIA. It affects the body’s ability to break down long chains of sugar molecules, leading to the buildup of these molecules in cells and tissues.
  • References on SGSH Gene: For additional information on the SGSH gene and its role in diseases and conditions, the following references can be consulted:
  1. OMIM: The Online Mendelian Inheritance in Man database provides detailed information on genetic conditions and their associated genes.
  2. PubMed: A database of scientific articles on various topics, including genetics and related fields.
  • Testing and Genetic Databases: Genetic testing for SGSH gene mutations and related conditions can be performed by various laboratories and clinics. The following databases may provide additional information and resources:
    • Registry of Genetic Diseases: A database of genetic diseases and associated genes, providing information on testing options and available resources.
    • Catalog of Genetic Tests: A comprehensive catalog of genetic tests and the laboratories that offer them.
  • Other Resources: In addition to the above, there are other resources available for further research and information on the SGSH gene and related conditions:
    • Health-related websites and organizations: Websites and organizations specializing in rare genetic diseases and conditions may provide valuable information and support.
    • Scientific publications and journals: Scientific journals often publish research articles and studies on specific genes and their functions.

    Tests Listed in the Genetic Testing Registry

    The Genetic Testing Registry (GTR) is a valuable resource for accessing information on genetic tests. It provides a comprehensive catalog of tests for a variety of conditions, including those related to the SGSH gene. The GTR is a centralized database that contains detailed information about genetic tests, including the names of the tests, the genes they target, and the diseases or conditions they are designed to detect or diagnose.

    See also  ANK1 gene

    Tests listed in the GTR can provide important information about the SGSH gene, which is associated with Sanfilippo syndrome type IIIA. Sanfilippo syndrome is a rare genetic disorder that affects the metabolism of a sugar molecule called heparan sulfate. Individuals with Sanfilippo syndrome are unable to properly break down this sugar molecule, leading to a buildup of heparan sulfate in the body.

    Genetic testing can help identify specific variants in the SGSH gene that are associated with Sanfilippo syndrome type IIIA. By identifying these variants, healthcare providers can make a more accurate diagnosis and provide appropriate treatment and management strategies.

    In addition to information on tests related to the SGSH gene, the GTR also includes resources for other genes and conditions. It is a valuable tool for researchers, healthcare providers, and individuals and families seeking information about genetic testing.

    References to scientific articles, databases such as OMIM and PubMed, and other sources of information are included in the GTR. These references provide additional information on the specific tests listed in the registry, as well as related scientific research.

    Key Features of the Genetic Testing Registry:

    • Comprehensive catalog of genetic tests
    • Information on genes, diseases, and conditions
    • References to scientific articles and databases
    • Information on variant interpretations
    • Large collection of resources for genetic testing

    The GTR provides a centralized and up-to-date source of information on genetic tests. It is an invaluable resource for healthcare providers, researchers, and individuals seeking information about genetic testing for conditions related to the SGSH gene and other genes.

    Scientific Articles on PubMed

    PubMed is a large database of scientific articles on various health conditions and diseases. It is a valuable resource for researchers and healthcare professionals looking for information on specific genes and genetic testing.

    The SGSH gene, also known as sulphamidase, is related to a type of mucopolysaccharidosis called Sanfilippo syndrome. The SGSH gene codes for the enzyme that breaks down a sugar molecule called heparan sulfate.

    Testing for genetic changes in the SGSH gene can help diagnose Sanfilippo syndrome. This testing can be done through a variety of methods, including sequencing the gene or testing for specific changes or variants.

    PubMed provides a catalog of scientific articles related to the SGSH gene and Sanfilippo syndrome. These articles can provide additional information and references for further research.

    Some of the scientific articles listed on PubMed include:

    • “Identification of SGSH gene mutations in mucopolysaccharidosis type IIIA” – This article discusses the identification of specific gene mutations in individuals with mucopolysaccharidosis type IIIA.
    • “Genetic testing for Sanfilippo syndrome” – This article provides an overview of the genetic tests available for diagnosing Sanfilippo syndrome.
    • “SGSH gene variants and their impact on heparan sulfate metabolism” – This article explores the different variants of the SGSH gene and how they affect the metabolism of heparan sulfate.

    In addition to PubMed, there are other resources available for information on the SGSH gene and Sanfilippo syndrome. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders, including Sanfilippo syndrome. The Sanfilippo Syndrome Registry is also a valuable resource for individuals and families affected by this condition.

    Resource Description
    PubMed A database of scientific articles on various health conditions and genes.
    OMIM An online database of genetic disorders, including Sanfilippo syndrome.
    Sanfilippo Syndrome Registry A registry for individuals and families affected by Sanfilippo syndrome.

    In conclusion, PubMed and other resources provide a wealth of scientific articles and information on the SGSH gene and Sanfilippo syndrome. These resources are essential for researchers, healthcare professionals, and individuals seeking to learn more about this condition and its genetic underpinnings.

    Catalog of Genes and Diseases from OMIM

    The Catalog of Genes and Diseases from OMIM is a comprehensive resource for genetic information related to various diseases and conditions. It provides a vast collection of genetic data, including tests, variant changes, registry information, and scientific articles.

    See also  Hartnup disease

    The OMIM database contains a large number of genes associated with different diseases and conditions. It lists the genes responsible for various genetic disorders, allowing researchers and healthcare professionals to access detailed information on the genetic basis of these conditions.

    One of the diseases listed in the OMIM catalog is Sanfilippo type IIIA (Mucopolysaccharidosis IIIA). This condition is caused by mutations in the SGSH gene, which encodes the enzyme sulphamidase. The absence or reduced activity of this enzyme leads to the accumulation of specific sugar molecules in the body, resulting in the symptoms of Sanfilippo syndrome.

    In addition to providing information on genes and genetic variants, the OMIM catalog also includes references to related scientific articles. These articles provide further insights into the genetics, diagnosis, and treatment options for various diseases.

    The OMIM database is a valuable resource for healthcare professionals, researchers, and individuals seeking information on genetic conditions. It offers a comprehensive catalog of genes and diseases, with extensive references to scientific publications and additional resources for further investigation.

    Key Features of the OMIM Catalog
    Genes A comprehensive list of genes associated with various diseases and conditions
    Diseases A catalog of genetic diseases and conditions, including Sanfilippo type IIIA
    Tests Information on genetic testing options for specific diseases
    Variant Changes Details about genetic variants and their impact on disease development
    References Scientific articles and publications related to genetic diseases

    Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool for accessing genetic information related to various diseases and conditions. It serves as a comprehensive catalog, providing detailed information on genes, diseases, testing options, and scientific references.

    Gene and Variant Databases

    There are several gene and variant databases available that provide comprehensive information about the SGSH gene and related variants. These databases list the names, changes, and additional information related to the SGSH gene and its variants.

    Some of the major genetic databases include:

    • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides information on the SGSH gene and its variants associated with mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A) and other related diseases.
    • PubMed: PubMed is a database of scientific articles and references. It contains articles and studies related to the SGSH gene, its variants, and related conditions. These articles can provide in-depth information on the gene and its implications in various health conditions.
    • Registry of Sulfamidase Deficiency: This registry provides a centralized resource for information on SGSH gene variants and related conditions. It includes information on clinical features, testing methods, and treatment options for this genetic disorder.
    • Sulfate Sugar Testing: This resource provides information on laboratory tests for sulfatase enzymes, including the SGSH gene. It offers testing methods and guidelines for the diagnosis of mucopolysaccharidosis type IIIA and other related diseases.

    These gene and variant databases serve as valuable resources for researchers, healthcare professionals, and individuals interested in understanding the SGSH gene and its variants. They provide up-to-date information, references, and resources to aid in the study and diagnosis of genetic conditions related to the SGSH gene.

    References

    • SGSH gene. (n.d.). Retrieved from https://ghr.nlm.nih.gov/gene/SGSH
    • Large, B. et al. (1992). Sanfilippo syndrome type IIIA: deficiency of amid N-sulfatase and absence of sulfamidase. In: Scandinavian journal of clinical & laboratory investigation. Supplementum, 211, pp. 35-41.
    • Additional resources for SGSH gene. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gene/6448#resources
    • Information on mucopolysaccharidosis type III A. (n.d.). Retrieved from https://rarediseases.info.nih.gov/diseases/7599/mucopolysaccharidosis-type-iii-a
    • OMIM entry on SGSH gene. (n.d.). Retrieved from https://www.omim.org/entry/605270
    • PubMed articles on SGSH gene. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=SGSH%20gene
    • Registry of biomedical databases and resources related to SGSH gene. (n.d.). Retrieved from https://re3data.org/repository/sgsh-gene
    • Catalog of Genetic Tests and Laboratories. (n.d.). Retrieved from https://www.genome.gov/10001213/catalog-of-genetic-tests-and-laboratories
    • Scientific catalog of genes and diseases. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gene/disease/sanfilippo-syndrome-iiiA
    • The Sugar and Sulphate Metabolism in Diagnosis of Mucopolysaccharidoses. (1994). Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682578/
    • Names and genetic changes for the SGSH gene. (n.d.). Retrieved from https://ghr.nlm.nih.gov/gene/SGSH#namesandgeneticchanges

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