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The GYS2 gene is responsible for encoding the glycogen synthase 2 enzyme. Glycogen synthase is crucial for glycogen storage in the body, especially in the liver and skeletal muscles. Mutations in the GYS2 gene can lead to various glycogen storage diseases, such as GSD type 0.

Testing for GYS2 gene mutations can be done to diagnose glycogen storage diseases and related conditions. Resources like scientific databases, such as OMIM and PubMed, provide additional information on this gene and related articles. Genetic variant names and changes from this gene are stored in the registry for easy access and testing.

Health professionals can utilize these resources to access the catalog of information on GYS2 gene mutations and related diseases. Names of genetic variants, testing resources, and references to scientific literature are all listed for easy access during testing and diagnosis. The Wolfsdorf Genet Testing Registry is a valuable tool for health professionals to gather information on this gene and its related diseases.

GYS2 gene mutations can cause a disruption in glycogen storage, leading to various health conditions. Testing and proper diagnosis of glycogen storage diseases are crucial for managing patient health. Learning about GYS2 gene mutations and the potential diseases they can cause is essential for effective patient care.

Genetic changes in the GYS2 gene can lead to various health conditions. These changes can be detected through testing, and their effects on health can vary. Research conducted by Wolfsdorf and colleagues have shed light on the impact of such genetic changes in glycogen storage disease type 0 (GSD-0).

Glycogen storage diseases (GSDs) are a group of inherited conditions that affect the body’s ability to store and release glycogen, a form of sugar used for energy. GSD-0 is caused by mutations in the GYS2 gene, which provides instructions for making the enzyme glycogen synthase 2. This enzyme is involved in the production of glycogen in the liver and muscles.

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The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed databases provide additional information on the GYS2 gene and its role in health conditions. These resources list scientific articles, genetic tests, and other references related to GYS2 variants and diseases.

Patients with GSD-0 experience symptoms such as low blood sugar levels during fasting or between meals. This can lead to fatigue, weakness, and other health issues. Additionally, GSD-0 can cause enlarged liver and delayed growth in some individuals.

To address the challenges posed by GSD-0 and other glycogen storage diseases, the Glycogen Storage Disease Registry and other disease registries store information on patients, genetic changes, and clinical outcomes. These registries serve as valuable resources for healthcare providers and researchers.

If there is a suspicion of GSD-0 or other glycogen storage diseases, genetic testing can be conducted to identify variants in the GYS2 gene. Results from these tests can provide vital information for diagnosis and treatment planning. Further research is continuously being conducted to improve our understanding of the GYS2 gene and its related health conditions.

Glycogen storage disease type 0

Glycogen storage disease type 0, also known as GSD type 0, is a rare genetic disorder that affects the storage of glycogen in the body. People with this condition have a variant in the GYS2 gene, which is responsible for producing the enzyme glycogen synthase 2. This enzyme plays a crucial role in the formation of glycogen, a complex sugar that is stored in the liver and muscles as a source of energy.

See also  CP gene

Individuals with GSD type 0 have difficulty storing glycogen, leading to low levels of glycogen in their liver and muscles. This can cause symptoms such as fatigue, weakness, and low blood sugar levels, especially during periods of fasting or between meals. The severity of the symptoms can vary from mild to severe, with some individuals experiencing life-threatening hypoglycemia.

Scientific articles and research studies have provided valuable information on GSD type 0. Additional information can be found from reputable sources such as PubMed, OMIM, and genetic databases. The Genetic Testing Registry and the Genetic and Rare Diseases Information Center also offer resources for testing and information on GSD type 0.

In addition to GSD type 0, there are other glycogen storage diseases and related conditions that are caused by changes in different genes. Some of the commonly named diseases include GSD type I, GSD type II, and GSD type III. These conditions have distinct symptoms and genetic variants in genes other than GYS2.

Testing for GSD type 0 usually involves genetic testing to identify changes in the GYS2 gene. This can help confirm the diagnosis and determine the specific gene variant responsible for the condition. The results of genetic testing can also provide information on the inheritance pattern and help with genetic counseling.

In conclusion, GSD type 0 is a glycogen storage disease caused by a variant in the GYS2 gene. It is characterized by difficulty in storing glycogen, leading to low glycogen levels and symptoms such as fatigue and low blood sugar levels. Scientific research and genetic databases offer valuable resources for information and testing related to GSD type 0 and other glycogen storage diseases.

Other Names for This Gene

This gene is also known by various other names, including:

  • GYS2 gene
  • GYS2
  • Glycogen storage disease type 0
  • Glycogen storage disease type 0 (GSD 0)
  • Glycogen storage disease type 0 (Wolfsdorf type)
  • Glycogen synthase 2
  • Glycogen synthase 2 (liver)

These names reflect the various aspects related to this gene. In scientific literature and databases such as PubMed, OMIM, and the Genetic Testing Registry, this gene may be listed under any of these names.

Additional Information Resources

For additional information on the GYS2 gene and related conditions, the following resources might be helpful:

  • Genetic Testing: Genetic testing can be done to identify changes or variants in the GYS2 gene. This can help diagnose glycogen storage diseases and other related conditions.
  • PubMed: PubMed is a scientific database that provides access to articles on various genes and diseases. Searching for “GYS2 gene” or “glycogen storage diseases” on PubMed may provide more information on this topic.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides comprehensive information on the GYS2 gene and related conditions.
  • Wolfsdorf Glycogen Storage Disease Registry: This registry collects and stores information on patients with glycogen storage diseases. It may have additional resources and information on the GYS2 gene.

These resources can help provide more information on the GYS2 gene, genetic testing, and related conditions. It is important to consult with healthcare professionals for accurate diagnosis, testing, and treatment options.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for a wide range of genetic conditions, including those related to the GYS2 gene. GYS2, also known as glycogen synthase 2, is involved in glycogen storage and plays a crucial role in various metabolic processes.

See also  HMGCL gene

Genetic tests listed in the GTR are designed to detect changes in the GYS2 gene and identify variants associated with diseases and conditions related to glycogen storage. These tests can help diagnose and manage various glycogen storage disorders.

The GTR compiles information from various genetic testing laboratories, research articles, databases, and other resources. The listed tests are based on scientific research and have been stored in the GTR for easy access and reference.

This valuable resource provides a comprehensive and up-to-date collection of tests related to glycogen storage disorders, including those associated with the GYS2 gene. Healthcare professionals and individuals interested in genetic testing can utilize the GTR to find relevant tests and additional information.

Some of the genetic tests listed in the GTR include:

  • Test Name 1 – A test specifically designed to detect variants in the GYS2 gene associated with a particular glycogen storage disorder.
  • Test Name 2 – Another test that targets variants in the GYS2 gene but is focused on a different type or subtype of glycogen storage disorder.
  • Test Name 3 – A comprehensive test that screens multiple genes, including GYS2, to identify variants linked to various glycogen storage diseases.

These tests and many others can provide valuable insights into an individual’s genetic makeup and help healthcare professionals make informed decisions regarding diagnosis, treatment, and management of glycogen storage disorders.

For further information on specific tests and their applications, interested individuals can refer to the GTR and associated resources such as OMIM, PubMed, and other scientific databases. The GTR serves as a centralized repository of genetic testing information and promotes accessibility to comprehensive genetic testing resources.

Scientific Articles on PubMed

Scientific articles related to the GYS2 gene can be found in various databases and resources, including OMIM (Online Mendelian Inheritance in Man). OMIM provides comprehensive information on genetic variants and their associations with diseases.

Genetic tests and other resources are listed for the GYS2 gene in OMIM, providing valuable information on the associated health conditions and storage diseases. These resources can help researchers and healthcare professionals to understand the impact of GYS2 gene variants on glycogen storage and related diseases.

The scientific articles available on PubMed provide additional information on the GYS2 gene and its role in glycogen storage diseases. For example, a study conducted by Weinstein et al. investigated the changes in GYS2 gene expression during meals and the storage of glycogen in the liver.

PubMed also offers a registry of articles that cite the GYS2 gene, allowing researchers to explore the scientific literature further and access relevant studies.

Furthermore, the catalog of articles available on PubMed includes information on other genes involved in glycogen storage diseases, providing a comprehensive overview of the genetic basis of these conditions.

In summary, scientific articles on PubMed provide a wealth of information on the GYS2 gene, its role in glycogen storage diseases, and its associations with various health conditions. Researchers can utilize these resources to deepen their understanding of the genetic factors involved in glycogen-related disorders.

  • OMIM – Online Mendelian Inheritance in Man
  • PubMed – National Center for Biotechnology Information (NCBI) database of scientific articles

Catalog of Genes and Diseases from OMIM

The Catalog of the Genes and Diseases from OMIM provides valuable information about various genes and related diseases. It serves as a comprehensive registry for genetic conditions and offers additional resources for understanding and testing these diseases.

OMIM, or Online Mendelian Inheritance in Man, is a database that compiles scientific articles and references on genetic diseases. It is a highly reliable source for genetic information, with over 30,000 articles available for research and reference.

One of the genes listed in the OMIM database is the GYS2 gene. This gene is associated with Glycogen Storage Disease Type 0 (GSD0), a rare genetic disorder characterized by the inability to store glycogen properly. Mutations in the GYS2 gene lead to a variant form of GSD0.

See also  PCSK9 gene

Glycogen is a complex carbohydrate that is stored in the liver and muscles. It provides a source of energy, especially during periods of fasting or strenuous exercise. In GSD0, glycogen is not stored correctly, leading to symptoms such as low blood sugar levels, fatigue, and muscle weakness.

Testing for mutations in the GYS2 gene can confirm a diagnosis of GSD0. This genetic test can be conducted by healthcare professionals to assess the presence of specific changes or variants in the gene.

In addition to GSD0, the OMIM catalog also provides information on a range of other genetic diseases. Users can search for specific gene names or disease names to access relevant information and references.

The OMIM database is a valuable resource for individuals and healthcare professionals interested in genetic conditions. It offers comprehensive information on genes, diseases, and related research articles. References to publications from PubMed are also included in the database for easy access to scientific literature.

Overall, the Catalog of Genes and Diseases from OMIM provides a wealth of information and serves as a reliable registry for genetic conditions. It is an invaluable tool in genetic research and contributes to advancements in understanding and treating various diseases.

Gene and Variant Databases

During genetic testing for glycogen storage diseases, the GYS2 gene may be examined for changes or variants. To access information on the GYS2 gene and its associated variants, researchers and healthcare professionals rely on gene and variant databases.

These databases serve as comprehensive catalogs of genes and their associated variants, providing a wealth of information on their functions, implications in various conditions, and references to scientific articles and resources.

One extensively used database is OMIM (Online Mendelian Inheritance in Man), which provides information on the genetic basis of human diseases. Researchers can search for GYS2 gene names, relevant diseases such as glycogen storage diseases, and associated variants listed in the database.

In addition to OMIM, other genetic databases like PubMed and Genet Registry also contain valuable information on the GYS2 gene and related variants. These databases compile scientific articles, health resources, and registry information on a wide range of genetic conditions, including glycogen storage diseases.

Genetic testing laboratories frequently refer to these databases when assessing the significance of genetic changes found in the GYS2 gene during testing. By cross-referencing with these resources, they can determine whether a variant is known to be pathogenic or benign, offering valuable insights into the interpretation of test results.

Furthermore, information from these databases can guide healthcare professionals in recommending appropriate testing, treatment, and management strategies for individuals with glycogen storage diseases caused by GYS2 gene variants.

In conclusion, gene and variant databases provide a crucial source of information regarding the GYS2 gene and its associated variants. They enable researchers, healthcare professionals, and genetic testing laboratories to access additional scientific knowledge, references, and testing guidance for better understanding and managing glycogen storage diseases.

References

  • GYS2 gene information in OMIM database. Available at: omim.org
  • Weinstein DA, Wolfsdorf JI. Glycogen storage diseases. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1312/
  • Additional information on GYS2 gene testing and related conditions can be found in the genetic testing registry. Available at: https://www.ncbi.nlm.nih.gov/gtr/genes/3774/
  • Scientific articles related to GYS2 gene and glycogen storage diseases can be found in PubMed database. Available at: pubmed.ncbi.nlm.nih.gov
  • Catalog of stored mutations and variants in the GYS2 gene can be accessed through the Génatlas database. Available at: genatlas.medecine.univ-paris5.fr

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