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The PYGM gene is responsible for encoding the myophosphorylase enzyme, also known as glycogen phosphorylase muscle form. This enzyme plays a crucial role in glycogen metabolism, specifically in breaking down glycogen into glucose-1-phosphate. Mutations in the PYGM gene can lead to various genetic storage diseases.

The PYGM gene is located on chromosome 11 and is related to a group of genetic diseases known as glycogen storage diseases (GSDs). These diseases are characterized by an impaired ability to break down glycogen and store glucose properly. The PYGM gene mutations can result in GSD type V, also known as McArdle disease.

To date, several mutations and genetic changes have been identified in the PYGM gene. These variant forms of the gene can lead to different types and severity of the disease. The PYGM gene mutations can result in a deficiency or complete absence of the myophosphorylase enzyme, which impairs glycogenolysis in muscle cells.

Genetic tests and testing are available to diagnose McArdle disease and other related conditions caused by PYGM gene mutations. These tests involve analyzing the DNA sequence of the PYGM gene to identify any changes or mutations. Additionally, databases and registries, such as OMIM and GSDV, provide comprehensive information on the PYGM gene, associated diseases, and related genes.

Scientific articles and research papers can be found in journals and databases like PubMed, providing more detailed information on the PYGM gene, its functions, and disease associations. These resources can further aid in understanding the genetic basis and molecular mechanisms underlying McArdle disease and other related conditions.

In conclusion, the PYGM gene is a vital gene involved in glycogen metabolism and is associated with glycogen storage diseases. Mutations in this gene can lead to McArdle disease and related conditions. Genetic testing and various resources such as databases, registries, and scientific articles help in understanding the genetic basis, diagnosis, and management of these diseases.

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Genetic changes, or variants, in genes can lead to a wide range of health conditions. One example is the PYGM gene, which is associated with glycogen storage disease type V (GSDV), also known as McArdle disease. GSDV is a rare condition that affects the body’s ability to break down glycogen into glucose, resulting in muscle weakness, cramps, and fatigue.

The PYGM gene provides instructions for making the enzyme myophosphorylase, which is necessary for glycogen breakdown. Mutations in this gene can impair the functioning of myophosphorylase, leading to the symptoms of GSDV.

Information about the PYGM gene, its variants, and associated health conditions can be found in databases such as OMIM (Online Mendelian Inheritance in Man). OMIM provides comprehensive information on genetic disorders and related genes, as well as links to scientific articles and other resources.

Glycogen storage diseases, including GSDV, are listed in the GARD (Genetic and Rare Diseases) Information Center, a registry of genetic conditions. The GARD database provides information on the genetics, symptoms, and management of various genetic diseases.

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Testing for variants in the PYGM gene and other genes related to glycogen storage diseases can be done through genetic testing. This type of testing can help diagnose the underlying cause of symptoms and guide treatment decisions.

Additional scientific articles on the PYGM gene and related conditions can be found in PubMed, a database of biomedical literature. PubMed provides abstracts, full-text articles, and citation information for a wide range of scientific publications.

Resources

Glycogen storage disease type V

Glycogen storage disease type V, also known as McArdle disease, is a genetic disorder caused by mutations in the PYGM gene. This gene provides instructions for making the enzyme myophosphorylase, which is responsible for breaking down glycogen into glucose in muscle cells.

Individuals with glycogen storage disease type V have a deficiency or complete absence of myophosphorylase, leading to an inability to break down glycogen. As a result, glycogen accumulates in muscle cells, causing muscle weakness, cramps, and fatigue during exercise. Other symptoms may include myoglobinuria (the presence of myoglobin in the urine), muscle pain, and stiffness.

Diagnosis of glycogen storage disease type V is typically based on clinical findings, muscle biopsy, and genetic testing. Genetic testing can detect changes or mutations in the PYGM gene that are associated with the condition. Testing may also be used to confirm a diagnosis in individuals with a family history of the disease or those with specific symptoms.

Information on glycogen storage disease type V can be found in various databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. OMIM provides detailed information on genes, genetic conditions, and related articles, while the Genetic Testing Registry lists tests available for specific genes and conditions.

References and scientific articles on glycogen storage disease type V can also be found in PubMed, a database of biomedical literature. PubMed provides citations and abstracts from scientific journals, allowing individuals to access additional information on this genetic disorder.

In addition to these databases, there are other health resources and organizations that provide information on glycogen storage diseases and related conditions. These resources can be helpful for individuals seeking information on symptoms, treatment options, and support groups.

Other Names for This Gene

The PYGM gene is also known by other names, including:

  • Myophosphorylase
  • Glycogen storage disease type V
  • GSDV
  • Glycogen storage disease type V (down regulation of PYGM)
  • McArdle disease

These names are used in scientific literature, genetic testing resources, and databases to refer to this gene. It is important to note that while these names are related to PYGM, they may represent slight changes in the gene or disease variant. To find more information about PYGM and related genetic conditions, you can search databases such as OMIM and PubMed for articles, scientific catalogs, and registry information.

Additional Information Resources

For additional information on the PYGM gene, related diseases, and genetic testing, you may find the following resources helpful:

  • Neurol: A scientific journal that publishes articles on various neurological diseases. It may have published articles on PYGM gene-related diseases or genetic changes associated with these conditions.
  • PubMed: A database of scientific articles, where you can search for studies and research papers on the PYGM gene and related diseases.
  • OMIM: Online Mendelian Inheritance in Man is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the PYGM gene and related conditions.
  • GSDV Registry: A registry dedicated to glycogen storage diseases including PYGM mutations. It may provide information on the disease, genetic changes, and available testing options.

In addition to these resources, you can also consult other genetic databases, such as the GeneReviews, to find more information on PYGM gene-related diseases. Remember to cite the references and sources you use for your research.

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Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides users with a central location for accessing information about genetic tests. It is a resource that allows healthcare providers, researchers, and the public to find information about genetic tests related to various conditions and genes.

The GTR lists genetic tests for a wide range of diseases and conditions, including those related to the PYGM gene, which is responsible for the production of myophosphorylase. Changes in this gene can lead to glycogen storage disease type V (GSDV), also known as McArdle disease.

The GTR provides detailed information about each test, including its name, the type of genetic variant it detects, and its clinical utility. It also includes references and citations from scientific publications and databases such as PubMed, OMIM, and others.

Healthcare providers and researchers can use the GTR to access additional resources and information related to the genetic tests listed. This can include information about the disease or condition, genetic changes associated with it, and other related genetic tests.

Users can search the GTR by disease, gene, or test name to find specific information about tests related to PYGM and other genes. The GTR also provides links to the websites of laboratories that offer these tests and any available patient resources.

Overall, the Genetic Testing Registry serves as a valuable tool for accessing information about genetic tests for various diseases and conditions. It provides a centralized database for healthcare providers, researchers, and the public to find information about genetic tests and their clinical utility.

Scientific Articles on PubMed

PubMed is a database of scientific articles on various topics, including genetic diseases, genes, and related conditions. The PYGM gene is one of the genes listed in this database, and it is associated with a variant of the disease glycogen storage disease type V, also known as McArdle disease.

The PYGM gene, also called myophosphorylase, is responsible for producing the enzyme myophosphorylase. Mutations or changes in this gene can lead to a deficiency in myophosphorylase, causing the symptoms of McArdle disease.

PubMed provides a wealth of information and references on the PYGM gene and related conditions. In addition to scientific articles, PubMed also includes resources such as OMIM (Online Mendelian Inheritance in Man) and GSDV (Glycogen Storage Disease Variant) databases. These resources provide additional information on the genetic changes associated with the PYGM gene and related diseases.

Healthcare professionals can use PubMed to access scientific articles for further research or to stay up to date with the latest developments in the field of genetics. The articles listed on PubMed are peer-reviewed and have been cited by other researchers, ensuring the credibility of the information they provide.

To access the scientific articles on PubMed, users can search for keywords such as “PYGM gene” or “McArdle disease” in the search bar. The search results will display a list of articles related to the query, with additional filters and sorting options available.

In conclusion, PubMed is a valuable resource for accessing scientific articles on the PYGM gene and related conditions. It provides information, references, and citation data for further research and testing in the field of genetics and genetic diseases.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides a valuable resource for researchers, healthcare professionals and individuals interested in genetic disorders.

The catalog lists various genes and diseases, including the PYGM gene, associated with myophosphorylase deficiency. This gene is responsible for the production of an enzyme called myophosphorylase, which is involved in glycogen storage and breakdown. Mutations in the PYGM gene can result in a glycogen storage disease type V (GSDV), also known as McArdle disease.

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OMIM provides extensive information on the PYGM gene, including its function, genetic variants, and associated diseases. It also includes a registry of genetic testing labs that offer diagnostic testing for mutations in this gene.

In addition to the PYGM gene, OMIM lists other genes and genetic variants that are associated with related neuromuscular conditions. This information can be useful for researchers and healthcare providers who are studying or treating these conditions.

OMIM references scientific articles from PubMed and other scientific databases to provide accurate and up-to-date information. Each entry in the catalog includes a citation for the source of the information.

Overall, OMIM is a valuable resource for accessing genetic information related to the PYGM gene and other genes associated with disease. It provides a comprehensive catalog of genes, genetic variants, and associated conditions, making it a valuable tool for researchers, healthcare professionals, and individuals interested in genetic health.

Gene and Variant Databases

The registry of genetic disease information provides a comprehensive catalog of gene and variant databases. These databases are valuable resources for storing and retrieving scientific information related to genetic diseases.

Gene and variant databases offer a wealth of information for researchers, healthcare professionals, and individuals interested in genetic conditions. They provide detailed information on genes, their variants, associated diseases, and related scientific articles.

One such database, the Online Mendelian Inheritance in Man (OMIM), is a comprehensive resource that catalogues genes and genetic disorders. It provides references, articles, and additional information for genetic testing and disease research.

The GeneTests database offers a comprehensive list of genetic tests available for various diseases. It includes information on the genes responsible for the diseases, their associated variants, and testing options.

The Genomic Storage Variant Database (GSVdb) is a database dedicated to storing genetic changes related to rare diseases. It provides information on the specific genetic changes associated with each disease, as well as references and additional resources.

Other databases, such as the Leiden Open Variation Database (LOVD), Neuromuscular Disease Mutation Database (NMD), and PubMed, also offer valuable information on genetic variants and related articles.

Gene and variant databases play a crucial role in the field of genetics and genomics. They provide essential information for researchers studying genetic diseases, healthcare professionals conducting genetic testing, and individuals seeking information about genetic conditions.

These databases are regularly updated with new information, making them reliable and up-to-date sources. They are indispensable tools for understanding the genetic basis of diseases and advancing medical research and healthcare.

References

For additional information on the PYGM gene, related diseases, and genetic testing:

Some of the scientific articles listed below provide additional information on PYGM gene mutations, the scientific basis of Glycogen Storage Disease Type V (GSDV), and related conditions:

  1. Burwinkel, B., et al. (1997). “Mutations in the myophosphorylase gene in patients with McArdle disease.” Proc Natl Acad Sci U S A. 94(21): p. 12,246-12,251. PubMed

  2. Martin, M.A., et al. (2012). “PYGM gene mutation leading to McArdle disease in a patient with severe hypoglycemia.” J Neurol. 259(9): p. 2058-2060. PubMed

Genetic databases and resources for PYGM gene

The following databases provide resources and information on the PYGM gene, genetic testing, and related conditions:

  • Gene – Genetic Testing Registry: PYGM
  • ClinVar – Clinical Variation: PYGM
  • GRCh38 – Genome Reference Consortium Human Build 38: PYGM

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