The PHKA1 gene, also known as phosphorylase kinase alpha 1, is responsible for the production of subunits of phosphorylase kinase in the liver and muscles. This gene plays a crucial role in the breakdown of glycogen, a stored form of glucose, and is involved in a genetic disorder known as glycogen storage disease type IX.

This gene has been extensively studied and its information can be found in various scientific databases, such as OMIM, PubMed, and others. There are numerous articles and references listed in these databases that provide additional information on the genetic changes and variants associated with this gene and its role in glycogen storage diseases.

Testing for mutations in the PHKA1 gene is available through genetic testing laboratories, and results can help in the diagnosis and management of glycogen storage diseases. It is important to note that although this gene is predominantly related to liver and muscle glycogen storage, mutations in other genes can also lead to similar conditions. Therefore, comprehensive testing of multiple genes may be necessary in certain cases.

For individuals and families affected by glycogen storage diseases or related conditions, resources and support can be found through various genetic and health organizations. These resources can provide information on genetic counseling, treatment options, and ongoing research in the field. Additionally, scientific articles and studies related to this gene and glycogen storage diseases can be accessed through scientific journals and citation databases.

Health Conditions Related to Genetic Changes

Glycogen storage diseases, or glycogenosis, are a group of genetic conditions caused by changes in the genes responsible for producing enzymes called glycogen phosphorylase. These enzymes break down glycogen, a form of stored sugar in the body, into glucose to provide energy to the muscles and other tissues.

There are different types of glycogen storage diseases, each related to a specific gene variant. The PHKA1 gene is one of the genes associated with glycogen storage diseases. This gene provides instructions for making one of the subunits of glycogen phosphorylase in the liver and muscles.

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Although changes in the PHKA1 gene are rare, they can result in a glycogen storage disease known as type IX. This type of disease affects the liver and muscles and is inherited in an X-linked recessive pattern. Symptoms can vary from mild to severe, and affected individuals may experience muscle weakness, fatigue, and difficulty with exercise.

Diagnosis of glycogen storage diseases typically involves a combination of clinical evaluation, biochemical tests, genetic testing, and additional imaging or muscle biopsy when necessary. Physicians may utilize resources such as OMIM (Online Mendelian Inheritance in Man) or PubMed to access scientific articles, genetic databases, and genetic registries for further information on glycogen storage diseases.

For a comprehensive list of glycogen storage diseases and their associated genes, the GeneReviews catalog is a valuable reference. Furthermore, the National Institute of Health’s Genetic Testing Registry provides information on available genetic tests for glycogen storage diseases and other genetic conditions.

In summary, changes in the PHKA1 gene can lead to glycogen storage diseases, particularly type IX. Genetic changes in other genes can also result in various types of glycogen storage diseases. Diagnosing these conditions requires a multidisciplinary approach involving clinical evaluation, biochemical tests, and genetic testing.

Glycogen storage disease type IX

Glycogen storage disease type IX (GSD IX) is a genetic disorder caused by mutations in the PHKA1 gene. It is a variant of glycogen storage disease (GSD), a group of inherited metabolic diseases characterized by defects in glycogen metabolism.

GSD IX is characterized by deficiencies in the phosphorylase kinase (PHK) enzyme. The PHK enzyme is responsible for the regulation of glycogen breakdown in the liver and muscles. Mutations in the PHKA1 gene lead to a reduced or absent activity of the PHK enzyme, resulting in impaired glycogen breakdown and accumulation of glycogen in tissues.

GSD IX has different subtypes based on the affected subunits of the PHK enzyme. These subtypes are listed as GSD IXa, GSD IXb, GSD IXc, and GSD IXd, each associated with mutations in specific genes.

GSD IX can present with a range of symptoms, including hepatomegaly (enlarged liver), hypoglycemia (low blood sugar), muscle weakness, and exercise intolerance. The severity of symptoms can vary among affected individuals.

Diagnosis of GSD IX involves genetic testing to identify mutations in the PHKA1 gene. Additional laboratory tests can be performed to measure PHK enzyme activity and glycogen levels in tissues.

Management of GSD IX focuses on managing symptoms and preventing complications. This may include dietary modifications, such as a high-protein and low-carbohydrate diet, to promote stable blood sugar levels. Regular monitoring of liver and muscle function is also recommended.

Resources for additional information:

• Genetics Home Reference – PHKA1 gene
• PubMed articles on Glycogen storage disease type IX
• National Organization for Rare Disorders (NORD)
• National Center for Biotechnology Information (NCBI) databases
• Malacards – The Human Malformations Database

Although GSD IX is a rare genetic disease, it is important to seek appropriate medical care and support. Genetic testing and counseling can provide valuable information for affected individuals and their families.

References:

1. Vega AI, et al. (2019). Glycogen storage disease type IX. In: Adam MP, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021.
2. Burton BK. (2020). Glycogen Storage Disease Type IX. In: GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021.

Citation: Glycogen storage disease type IX. Vega AI, Burton BK. In: Adam MP, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK547672/. Epub 2020 Feb 6.

Scientific Catalog of Human Genetic Variation: PHKA1 gene. Retrieved from https://www.ncbi.nlm.nih.gov/variation/tools/

Other Names for This Gene

The PHKA1 gene is also known by several other names, including:

• – Phosphorylase Kinase alpha 1 Subunit
• – Phosphorylase Kinase alpha 1 (Liver)
• – Glycogen Storage Disease Type IXa
• – Glycogen Storage Disease Type IXa1
• – Glycogen Storage Disease Type IXa, Liver
• – Glycogen Storage Disease Type IXa1, Liver

In addition to these names, there are other genes that are related to PHKA1. According to PubMed, some of these genes include:

• – Phosphorylase Kinase beta Subunit (PHKB)
• – Phosphorylase Kinase Gamma 1 (PHKG1)
• – Phosphorylase Kinase Gamma 2 (PHKG2)

Although these genes are related to PHKA1, they have their own set of functions and are associated with different diseases or conditions.

For additional genetic and health information about PHKA1, there are resources available such as OMIM, the Genetic Testing Registry, and the PUBMED and OMIM databases. These resources provide further citation and article references, as well as access to scientific studies and testing information.

Additional Information Resources

• Genetic testing: Phosphorylase kinase deficiency (PHKA1) can be diagnosed through genetic testing. Testing is available for mutations in the PHKA1 gene that cause glycogen storage disease type IX.
• PubMed articles: Scientific articles related to PHKA1 and glycogen storage diseases can be found on PubMed, a database of medical research.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the genetic variants and associated diseases, including glycogen storage diseases.
• Gene databases: Databases such as GenBank and GeneCards contain information on the PHKA1 gene, its variants, and their effects on health and disease.
• Registry: The Glycogen Storage Disease Genetic Consortium maintains a registry of individuals with glycogen storage diseases, including those caused by PHKA1 mutations. The registry can provide resources and information for patients and families affected by these conditions.
• Articles and references: There are numerous articles and references available on the topic of PHKA1 and glycogen storage diseases. These include scientific papers, reviews, and case studies that provide valuable insights into the disease, its symptoms, and treatment options.
• Catalog of genetic changes: The Catalog of Variantsequences provides a comprehensive catalog of genetic changes and variants, including those associated with PHKA1 and glycogen storage diseases.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) catalog lists various tests related to the PHKA1 gene. This gene is associated with glycogen storage diseases such as glycogen storage disease type IX (GSD-IX). GSD-IX is caused by changes or variants in the PHKA1 gene and affects the storage of glycogen in liver and muscles.

Genetic testing for the PHKA1 gene can help in diagnosing GSD-IX and other related conditions. These tests can detect changes or variants in the gene, which helps in confirming the diagnosis and understanding the underlying cause of the disease.

The GTR provides information on genetic tests available for the PHKA1 gene, including the different types of tests and their purposes. It also includes information on other genes related to glycogen storage diseases, as well as other diseases associated with similar symptoms.

Tests listed in the GTR are curated from scientific articles, databases, and other resources. The registry provides references and citations for each listed test, including links to relevant articles published in PubMed and OMIM.

In addition to the genetic testing information, the GTR also provides related resources and health information to assist individuals and healthcare professionals in understanding and managing glycogen storage diseases.

These tests provide valuable information for diagnosing and managing glycogen storage diseases. By analyzing changes or variants in the relevant genes, healthcare professionals can determine the specific type or variant of the disease and tailor treatment plans accordingly.

Genetic testing listed in the GTR is updated regularly as new information and research become available. It is a comprehensive resource for accessing the latest testing options and scientific findings related to the PHKA1 gene and its associated diseases.

Scientific Articles on PubMed

Glycogen storage diseases (GSDs) are a group of genetic conditions that result from abnormalities in genes involved in glycogen metabolism. One of the genes associated with GSDs is the PHKA1 gene. This gene encodes the alpha subunit of phosphorylase kinase, an enzyme involved in the breakdown of glycogen to glucose. Mutations in the PHKA1 gene can lead to a type of GSD known as glycogen storage disease type IX.

PubMed is a widely used database for accessing scientific articles. It contains a vast collection of references and full-text articles on a wide range of health and biomedical topics. By searching for “PHKA1 gene” on PubMed, one can find articles that provide information on the genetic variant, related diseases, and changes in muscle and liver glycogen storage.

Although PubMed provides a comprehensive catalog of scientific articles, additional databases and resources should be consulted for testing and specific information on glycogen storage diseases. The Online Mendelian Inheritance in Man (OMIM) database, for example, contains detailed information on genetic disorders, including glycogen storage diseases. The GeneReviews database also provides up-to-date information on genetic conditions and related genes.

For those interested in testing for the PHKA1 gene variant or other genetic changes related to glycogen storage diseases, laboratories offering genetic testing services can be found through resources such as the Genetic Testing Registry (GTR). GTR provides information on available tests, laboratories that perform the tests, and the conditions for which the test is recommended.

Scientific articles available on PubMed can serve as valuable references for researchers and healthcare professionals seeking information on the PHKA1 gene and glycogen storage diseases. The citation and abstracts of these articles can provide a concise summary of the research findings and their relevance to the field.

• PubMed provides access to a wide range of scientific articles on various topics.
• Articles on PHKA1 gene and glycogen storage diseases can be found by searching PubMed.
• Additional databases like OMIM and GeneReviews offer detailed information on genetic disorders and related genes.
• The Genetic Testing Registry can help in finding laboratories offering genetic testing services for glycogen storage diseases.
• Scientific articles on PubMed can serve as valuable references for researchers and healthcare professionals.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on a wide range of genetic conditions. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in learning more about genetic diseases and related genes.

The catalog lists thousands of genes and their associated diseases. It includes information on the specific genetic changes or variants that are known to be associated with each disease. For example, the PHKA1 gene is listed in the catalog and is associated with a type of glycogen storage disease called glycogen storage disease type IX. This disease affects the liver and muscles due to changes in the PHKA1 gene.

In addition to providing information on specific genes and diseases, the catalog also includes references to scientific articles and resources related to each condition. These references provide additional information on the genetic changes, testing methods, and treatment options for each disease.

Users of the catalog can search for specific genes or diseases using the search function provided. The catalog also allows users to browse through the different genes and diseases listed in an organized manner. This makes it easy for users to find the information they need.

The catalog is regularly updated with new information and discoveries in the field of genetics. Users can access the latest version of the catalog online through the OMIM website. This ensures that users have access to the most current and accurate information on genes and genetic diseases.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone interested in learning more about genetic diseases and related genes. It provides a comprehensive list of genes and associated diseases, along with information on genetic changes, testing methods, and treatment options. Whether you are a researcher, healthcare professional, or individual interested in your own genetic health, the catalog is a valuable tool for understanding the genetic basis of diseases.

Gene and Variant Databases

Gene and variant databases are essential resources for storing and accessing information about genes and genetic variants. These databases are curated and regularly updated to provide accurate and up-to-date information for scientific research, clinical testing, and the understanding of genetic diseases.

Gene and variant databases, such as PHKA1 gene database, contain a comprehensive collection of references and citations related to the gene and its associated variants. These databases provide a wealth of information about the gene’s functions, structure, mutations, and their relationships with different diseases.

One of the advantages of gene and variant databases is that they provide a centralized and organized storage of information. Researchers, clinicians, and other professionals can easily access and retrieve information from these databases, accelerating research and testing processes.

In addition to the gene-specific databases, there are also general genetic databases that cover multiple genes and genetic variations. These databases catalog information from various sources, including scientific articles, genetic tests, and disease registries.

Examples of commonly used gene and variant databases include PubMed, OMIM, and the NCBI Gene database. PubMed, a scientific citation index, offers a vast collection of articles and references related to genes and genetic variations. OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on genetic diseases and the associated genes. The NCBI Gene database offers detailed information about genes and their functions, including information on the PHKA1 gene.

These gene and variant databases serve as valuable resources for researchers, clinicians, and patients interested in genetic testing, genetic diseases, and related health conditions. By accessing these databases, they can obtain information about the genetic changes, variant names, related diseases, and additional resources available for further exploration.

Overall, gene and variant databases play a crucial role in expanding our understanding of genes, genetic variations, and their implications in various diseases. By providing reliable and curated information, these databases contribute significantly to scientific research, clinical testing, and the development of targeted therapies for genetic disorders.

References

• Articles from scientific journals:

  1. “PHKA1 Gene – Genetics Home Reference – NIH”. Genetics Home Reference. Retrieved .
  2. “Phosphorylase Kinase Deficiency – NORD (National Organization for Rare Disorders)”. NORD. Retrieved .

• Registry and database resources:

  1. OMIM – Online Mendelian Inheritance in Man. Retrieved .
  2. PubMed – Resource for biomedical literature. Retrieved .

• Other resources:

  1. Catalog of Genes and Diseases – NCBI. Retrieved .
  2. Glycogen Storage Disease – Genetic and Rare Diseases Information Center (GARD). Retrieved .