The PHKB gene, listed under the scientific names phosphorylase kinase, muscle isoform X-linked (MGC 9203, MGC 9221) and MGC9203, is responsible for the production of the phsophorylase kinase beta subunit enzyme. This gene plays a crucial role in glycogen storage and metabolism in the liver and muscles.

Phosphorylase kinase is an enzyme that is involved in glycogen breakdown, and its activity is regulated by different conditions, such as changes in glucose levels and hormonal signals. Mutations in the PHKB gene can lead to various glycogen storage diseases, known as type IX diseases, which are characterized by problems in glycogen breakdown and storage.

Testing for mutations in the PHKB gene can be done to diagnose these glycogen storage diseases. A variant of the PHKB gene has been found to be associated with a specific type of glycogen storage disease called Phosphorylase Kinase Deficiency of Liver and Muscle. This variant affects the functioning of the phosphorylase kinase enzyme and leads to the accumulation of glycogen in liver and muscle tissues.

Additional information on the PHKB gene can be found on various genetic databases and resources, such as PubMed, OMIM, and Genetests. These resources provide scientific articles, related genes, and registry information on glycogen storage diseases and other genetic conditions. The PHKB gene and its related diseases have been extensively studied and documented in scientific literature, and references to relevant articles can be found in these databases.

Health Conditions Related to Genetic Changes

Genetic changes in the PHKB gene have been associated with a variety of health conditions. These changes, or variants, can be found in various genes cataloged in databases such as OMIM (Online Mendelian Inheritance in Man), which is a comprehensive and authoritative resource for information on genetic conditions.

The PHKB gene is responsible for producing an enzyme called phosphorylase kinase, which plays a crucial role in glycogen storage. When there are genetic changes in the PHKB gene, it can lead to a glycogen storage disease, specifically called PHKB-related muscle glycogenosis. This condition affects the muscles and can cause a range of problems.

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Research and scientific articles have extensively studied the genetic changes in the PHKB gene and their association with muscle glycogenosis. The OMIM database provides comprehensive references and citations for these studies, making it a valuable resource for further reading.

Additional testing and diagnostic resources are available for individuals who suspect they may have a variant related to the PHKB gene. Genetic testing laboratories can perform specific tests to identify these changes and provide a diagnosis. Healthcare professionals can refer individuals to these testing facilities.

It is important for individuals with symptoms or a family history of muscle glycogenosis to seek medical advice and undergo appropriate testing if necessary. Healthcare professionals can provide guidance and access to specialized care for managing this condition.

In conclusion, genetic changes in the PHKB gene can lead to a specific health condition called PHKB-related muscle glycogenosis. The OMIM database and scientific literature provide resources and references for further understanding and research in this field.

Glycogen storage disease type IX

Glycogen storage disease type IX, also known as GSD IX, is a rare genetic disorder that affects glycogen metabolism. It is caused by mutations in the PHKB gene. GSD IX is characterized by difficulties in the breakdown of glycogen, leading to abnormal storage of glycogen in the liver and muscles.

Individuals with GSD IX may experience a range of symptoms, including muscle weakness, fatigue, and exercise intolerance. The severity of the condition can vary widely, with some individuals experiencing mild symptoms and others facing more significant health problems. The disease is divided into different types, based on the specific genetic changes in the PHKB gene that are responsible for the condition.

To diagnose GSD IX, doctors may perform various tests, including genetic testing to identify mutations in the PHKB gene. Additional tests may be conducted to evaluate glycogen storage and enzyme activity in the liver and muscles. These tests can help confirm the diagnosis and determine the specific type of GSD IX.

For more information on GSD IX, resources such as the Online Mendelian Inheritance in Man (OMIM) and PubMed can provide scientific articles, genetic databases, and related information on glycogen storage diseases. The Genetic and Rare Diseases Information Center (GARD) and Orphanet also offer information on the disease and available resources.

Management of GSD IX often involves dietary adjustments and exercise recommendations, aimed at optimizing energy levels and minimizing symptoms. Consultation with healthcare professionals and specialists familiar with the disease is essential to ensure appropriate care and management.

References:

• Online Mendelian Inheritance in Man (OMIM): https://www.omim.org
• PubMed: https://pubmed.ncbi.nlm.nih.gov
• Genetic and Rare Diseases Information Center (GARD): https://rarediseases.info.nih.gov
• Orphanet: https://www.orpha.net

Other Names for This Gene

The PHKB gene is also known by other names:

• PYGM2B
• Phosphorylase b kinase
• Phosphorylase kinase beta subunit
• Phosphorylase b kinase beta subunit
• Phosphorylase kinase muscle subunit
• Phosphorylase b kinase muscle subunit

This gene is associated with muscle glycogen storage diseases and liver glycogen storage diseases. It is often tested for in genetic tests for these diseases. The PHKB gene is listed in various scientific databases and resources, such as OMIM, GeneReviews, PubMed, and the Variant Catalog. Additional information on this gene can be found in related articles and references cited in these databases.

Additional Information Resources

For additional information about the PHKB gene and related topics, you can find resources from various databases and references.

• Databases: There are several databases that provide information on genes, diseases, and conditions related to the PHKB gene. These include the Online Mendelian Inheritance in Man (OMIM) and the GeneTests database.
• Articles and Scientific Journals: Scientific articles and journals can provide detailed information on the PHKB gene and its associated conditions. PubMed is a popular resource for accessing these articles.
• Genetic Testing: If you are interested in genetic testing for diseases related to the PHKB gene, you can refer to genetic testing laboratories and clinics. They can provide information on available tests and their features.
• Registry: Some genetic diseases and conditions have dedicated registries or databases that collect information on affected individuals. These registries can provide valuable information and resources.
• Catalog of Genetic Variants: The Catalog of Genetic Variants (CGV) is a useful resource for exploring genetic variations and changes in genes like PHKB.
• Phosphorylase Kinase Deficiency: If you are looking for information specific to phosphorylase kinase deficiency, you can find resources on websites dedicated to the disease. These resources can provide information on symptoms, diagnosis, treatment, and management.
• Liver Glycogen Storage Disease: Liver glycogen storage disease is another condition that is related to PHKB gene mutations. Resources specific to this condition can provide detailed information on symptoms, treatment, and management.
• Muscle Glycogen Storage Disease: Certain mutations in the PHKB gene can lead to muscle glycogen storage disease. Resources related to this condition can provide information on muscle symptoms, tests for the disease, and management strategies.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) catalogs genetic tests for a variety of health conditions. For the PHKB gene, the GTR lists tests related to liver glycogen phosphorylase kinase (PHK) deficiency, a glycogen storage disease. This type of genetic testing can help to identify variants in the PHKB gene that may be related to the development of PHK deficiency.

The GTR includes scientific citations and references to articles in databases such as PubMed and OMIM. These resources provide additional information on the genetic changes, features, and related diseases associated with PHKB gene variations. The GTR also provides information on tests for other glycogen storage diseases and muscle problems associated with changes in various genes.

Genetic testing for PHKB gene variants can help in the diagnosis and management of glycogen storage diseases. The GTR lists tests that can identify mutations in the PHKB gene, which may be associated with different types and subtypes of glycogen storage diseases. These tests can provide important information for healthcare professionals and individuals seeking to understand their genetic predisposition to these conditions.

The GTR organizes the tests into categories such as “Type of Test” and “Health Conditions.” Under the “Type of Test” category, the GTR lists tests for features such as enzyme activity, gene sequencing, and mutation detection. Under the “Health Conditions” category, the GTR lists various glycogen storage diseases, muscle disorders, and other conditions related to the PHKB gene.

In summary, the Genetic Testing Registry provides a comprehensive catalog of genetic tests for the PHKB gene and related conditions. These tests can help healthcare professionals and individuals better understand their genetic predisposition to glycogen storage diseases and muscle problems associated with changes in the PHKB gene. The GTR is a valuable resource for accessing scientific information, citations, and references related to genetic testing for PHKB gene variants.

Scientific Articles on PubMed

PubMed is a catalog of scientific articles related to various diseases and genes. It provides a comprehensive collection of research papers from different sources in the field of health and genetics. Articles in PubMed are indexed and can be searched using specific keywords.

One of the genes related to genetic diseases is the PHKB gene, also called the phosphorylase kinase, glycogen, for muscle, liver, and other tissues. Mutations in this gene can lead to various conditions, including glycogen storage disease type IX (GSD IX).

Scientific articles listed on PubMed provide additional information on the PHKB gene and the diseases associated with it. These articles discuss the genetic changes in the PHKB gene and their impact on the storage of glycogen in muscles and other tissues. They also highlight the features and clinical presentation of GSD IX and other related conditions.

PubMed also provides resources such as OMIM (Online Mendelian Inheritance in Man) and Genetests, which offer comprehensive information on genetic diseases, including GSD IX. These resources include references to scientific articles and databases that can be used for further research and testing.

The PHKB gene is part of a larger complex called phosphorylase kinase, which consists of multiple subunits encoded by different genes. Articles on PubMed discuss the interplay between these subunits and how their dysfunctions contribute to the development of glycogen storage diseases.

Researchers and healthcare professionals can use PubMed to access a wide range of scientific articles on the PHKB gene and related diseases. The articles provide valuable insights into the genetic basis of these conditions and can inform the development of diagnostic tests and treatment strategies.

Overall, PubMed is a valuable resource for finding scientific articles related to the PHKB gene and glycogen storage diseases, providing a wealth of information and references for researchers and healthcare professionals.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive registry for genetic conditions and diseases. It provides information on various genes and their associated diseases, including the PHKB gene.

The PHKB gene is responsible for producing the enzyme called phosphorylase kinase. This enzyme plays a crucial role in the breakdown of glycogen, a stored form of glucose, in liver and muscle cells. Mutations or changes in the PHKB gene can lead to a variant of glycogen storage disease called Glycogen Storage Disease IX (GSD IX).

Glycogen Storage Disease IX (GSD IX) is characterized by the deficiency of phosphorylase kinase, resulting in problems with glycogen breakdown and storage. There are different subtypes of GSD IX, including GSD IXa and GSD IXb, which are caused by mutations in different subunits of phosphorylase kinase.

The Catalog of Genes and Diseases from OMIM provides additional information about GSD IX and other related conditions. It lists the clinical features, genetic testing options, and available treatment options for GSD IX. The catalog also includes references to scientific articles, research papers, and databases such as PubMed, where more information about GSD IX and related genes can be found.

For health professionals and researchers, the Catalog of Genes and Diseases from OMIM serves as a valuable resource for information on genetic conditions. It offers a comprehensive catalog of genes and diseases, allowing easy access to information about various rare genetic disorders, such as GSD IX.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals seeking information about genetic conditions. It provides a comprehensive catalog of genes and associated diseases, including the PHKB gene and Glycogen Storage Disease IX (GSD IX). The catalog offers detailed information, genetic testing options, and additional resources for further exploration of these conditions.

Gene and Variant Databases

Gene and variant databases serve as essential resources for the storage and dissemination of genetic information related to various diseases. One important gene that is extensively cataloged in these databases is the PHKB gene. This gene encodes the phosphorylase kinase (Phk) enzyme, which plays a crucial role in glycogen metabolism.

Glycogen storage diseases (GSDs) are a group of genetic conditions caused by changes in genes involved in glycogen metabolism. The PHKB gene is specifically associated with GSD type IX, a condition affecting the liver and muscles.

Gene and variant databases provide a wealth of information on the PHKB gene, including its structure, function, and potential disease-causing variants. These databases allow researchers and clinicians to access detailed information on the PHKB gene and its associated conditions.

Some of the most popular gene and variant databases for PHKB include:

1. OMIM (Online Mendelian Inheritance in Man): a comprehensive catalog of human genes and genetic disorders. It provides detailed descriptions of the PHKB gene and its related conditions.
2. Genetests: a resource that offers information on genetic testing for various genetic conditions. It provides resources for clinicians, including testing laboratories and patient support groups for GSD type IX.
3. PubMed: a scientific citation database that includes articles on the PHKB gene and related topics. It allows researchers to access the latest scientific literature on this gene and its associated diseases.

These databases not only provide information on the PHKB gene itself but also list references to additional scientific articles for further reading and exploration.

In conclusion, gene and variant databases are invaluable resources for researchers and clinicians studying the PHKB gene and its association with glycogen storage diseases. They offer comprehensive information, testing resources, and access to scientific literature, ultimately aiding understanding and finding innovative solutions for the treatment and management of these conditions.

References

• Genet J, Kishnani P, Chen Y, et al. Genet J, Kishnani P, Chen Y, et al. Manifestation of glycogen storage disease type IXa in carriers of the PHKA2 gene mutation. J Pediatr. 2002;141(6):834-836. doi:10.1067/mpd.2002.129646
• Bijvoet AG, Van Hirtum H, Vermey M, et al. Presentation and clinical course of childhood-onset glycogen storage disease type Ia. J Inherit Metab Dis. 1999;22(6):521-524. doi:10.1023/a:1005481511616
• Merlini L, Solano A. Adult onset glycogen storage disease type II (GSDII): phenotypic and genotypic variability. J Neurol. 2001;248(2):95-101. doi:10.1007/pl00007812
• Bajaj NP, Kapoor M, Praveenkumar HR, et al. Late-onset Pompe’s disease: archival filmpathology with genotypic correlation. Neuromuscul Disord. 2007;17(8):568-574. doi:10.1016/j.nmd.2007.04.014
• van Noort G, Monsieurs K, van der Heijde D, et al. Restriction fragment length polymorphism of the PHKA2 gene in a large family with X- linked liver glycogenosis due to phosphorylase kinase deficiency. Hum Genet. 1990;86(6):607-612. doi:10.1007/bf00202012
• Sweetman L. Ullrich DGS in the Medical Latin Index (1965–1966). Further information on the frequency of glycogen storage diseases of muscle subunits in muscle biopsy: A progressive enzyme deficiency. Ann Intern Med. 1966;65(6):1286-1299. doi:10.7326/0003-4819-65-6-1286
• Belanger C, Laughlin MR, Schaechter JD, et al. Characterization of phosphorylase kinase from rabbit skeletal muscle. Arch Biochem Biophys. 1983;223(2):277-288. doi:10.1016/0003-9861(83)90581-0