The PHKG2 gene is a key gene involved in the production of the gamma-2 subunit of phosphorylase, an enzyme that plays a crucial role in glycogen storage. Mutations in this gene can lead to glycogen storage diseases, a group of genetic conditions characterized by the abnormal accumulation of glycogen in various tissues, especially the liver.

Glycogen storage diseases can cause a range of symptoms, from mild to severe, depending on the specific mutation and other factors. Some individuals may experience liver cirrhosis or other liver-related complications, while others may have less severe symptoms, such as muscle weakness or fatigue.

Testing for mutations in the PHKG2 gene can be performed to confirm a diagnosis of glycogenosis type IX. Genetic testing can help determine the specific variant of the gene and provide information on the complexity of the disease.

Additional resources for information on the PHKG2 gene and related diseases can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. These resources provide references to articles, studies, and other information produced by the scientific community.

Health Conditions Related to Genetic Changes

The PHKG2 gene is associated with several health conditions when genetic changes occur. To determine if a genetic change in this gene is causing a health condition, tests can be performed to identify mutations or variants in the gene. Genetic testing can be done to detect changes in the PHKG2 gene, which is involved in the production of the enzyme phosphorylase kinase, a crucial player in glycogen storage in liver cells.

Liver diseases are the most common health conditions related to changes in the PHKG2 gene. These changes can result in a condition called glycogen storage disease type IX (GSD IX). There are several subtypes of GSD IX related to different mutations in the PHKG2 gene.

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The severity and complexity of the disease depend on the specific genetic variant. Some variants may cause mild symptoms, while others can lead to severe liver damage and cirrhosis. Therefore, it is important to identify the specific genetic changes in the PHKG2 gene to better understand the related disease.

Additional articles and resources for genetic testing, related diseases, and scientific references can be found in various databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide information on the genetic changes, health conditions, and other relevant data for further study.

In summary, the PHKG2 gene is associated with glycogen storage disease type IX and various liver diseases. Genetic testing can help identify the specific changes in the gene and determine the related health conditions. The complexity and severity of these conditions depend on the specific genetic variant.

Common Health Conditions Related to Genetic Changes in the PHKG2 Gene:

Health Condition	Related Disease
Glycogen Storage Disease Type IX	PHKG2-related glycogen storage disease
Liver Diseases	Cirrhosis, liver damage

References:

1. Genetic Testing Registry. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/
2. Online Mendelian Inheritance in Man (OMIM). Retrieved from https://omim.org/
3. PUBMED. Retrieved from https://pubmed.ncbi.nlm.nih.gov/

Glycogen storage disease type IX

Glycogen storage disease (GSD) type IX is a rare genetic disorder that affects the storage and metabolism of glycogen in the body. It is caused by mutations in the PHKG2 gene, which provides instructions for making the phosphorylase b kinase gamma subunit.

Glycogen is a form of glucose that is stored in the liver and muscles as a source of energy. In individuals with GSD type IX, the production or function of the phosphorylase b kinase gamma subunit is impaired, leading to a buildup of glycogen in the liver. This can result in various symptoms, including hepatomegaly (enlarged liver), cirrhosis, and elevated liver enzymes.

GSD type IX is divided into three subtypes, IXa, IXb, and IXc, based on the specific gene mutations. Each subtype has distinct symptoms and severity. GSD type IXa is the most severe form, while IXc is the mildest.

Diagnosis of GSD type IX is typically done through genetic testing to identify mutations in the PHKG2 gene. Additional tests, such as liver biopsy, may be performed to evaluate the extent of liver damage.

Treatment for GSD type IX focuses on managing symptoms and maintaining a healthy diet. This may include regular monitoring of liver function, avoiding foods that can trigger glycogen storage, and supplementation with cornstarch or other sources of glucose.

For more information on glycogen storage disease type IX, you can refer to the following resources:

• OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders. It provides detailed information on the PHKG2 gene and associated variants.
• PubMed: A database of scientific articles and research papers. Searching for “glycogen storage disease type IX” will yield articles on the topic.
• Glycogen Storage Disease Registry: A registry for individuals with glycogen storage diseases. It offers additional resources and support for individuals and families affected by GSD type IX.

Further scientific articles, health organization websites, and genetic databases can also provide valuable information on GSD type IX and related conditions.

Other Names for This Gene

The PHKG2 gene is also known by several other names:

• Phosphorylase kinase gamma 2 subunit
• Phosphorylase kinase, liver, gamma 2 variant
• PHKG2-IDDM
• PKD
• Phosphorylase b kinase gamma catalytic chain, liver/testis isoform
• Phosphorylase b kinase gamma 2 subunit
• Phosphorylase kinase gamma subunit 2
• Phosphorylase kinase, gamma 2 (testis)
• Phosphorylase kinase gamma non-catalytic subunit 2
• PHKgamma2
• Phosphorylase kinase gamma 2 subunit (liver/prepuce)

These names may be listed in scientific articles, databases, and other resources as alternative names for the PHKG2 gene. They can help in the search for more information about this gene and related scientific studies.

Additional Information Resources

Here are some additional resources for more information on the PHKG2 gene:

• Gene: PHKG2
• Other Names: Phosphorylase Kinase Gamma 2
• Genetic Testing: Testing for variations in the PHKG2 gene can be done to determine the presence of glycogen storage diseases type IX or other related conditions.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the PHKG2 gene and related conditions. It contains scientific articles, genetic changes, and other resources for further research.
• Registry: The Genetic and Rare Diseases Information Center (GARD) maintains a registry of individuals with glycogen storage disease type IX. This registry can provide support and resources for those affected by the disease.

For more information on glycogen storage diseases and the PHKG2 gene, refer to the following resources:

1. Articles: There are numerous articles available that discuss the complexity of glycogen storage diseases, including type IX. These articles provide scientific information on the different types, subtypes, and variant forms of the disease.
2. Databases: Various databases contain information on the PHKG2 gene and its role in glycogen metabolism. These databases can be used to access the latest research and findings.
3. Cirrhosis: Severe liver cirrhosis can occur in some individuals with glycogen storage diseases, including type IX. The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) provides information on cirrhosis and its connection to glycogen storage diseases.
4. Health Information: Websites such as MedlinePlus and Mayo Clinic offer general information on glycogen storage diseases, including type IX. These websites provide information on symptoms, diagnosis, and treatment options for the condition.
5. Epub Ahead of Print: The Journal of Inherited Metabolic Disease often publishes research articles on glycogen storage diseases, including type IX. The “Epub ahead of print” section allows access to the latest research studies before they are formally published.
6. References: References to scientific articles, books, and other resources are often listed at the end of research papers. These references can lead to more information on the subject.

These resources can provide a wealth of information on the PHKG2 gene and its role in glycogen storage diseases. Consult with a healthcare professional or genetic counselor for personalized information and guidance.

Tests Listed in the Genetic Testing Registry

The following tests are listed in the Genetic Testing Registry for the PHKG2 gene:

• Gene(s) listed in the test: PHKG2
• Type of test: Genetic
• OMIM: This gene is associated with several complex diseases, including cirrhosis type II and glycogen storage disease type IX

Additional gene names and subunits:

• PHKG2-AS1
• GSD9B

Catalog of scientific articles about PHKG2 gene:

• PHKG2 gene variants in liver disease: PubMed
• Phosphorylase glycogen, glycogen storage diseases, and severe gamma-2 variant: PubMed

Additional information and resources:

• Genet Testing. for the PHKG2 gene: Additional health-related information and resources
• Genet Testing. for other conditions related to PHKG2 gene changes: Additional health-related information and resources

For more information on the PHKG2 gene and genetic testing, please refer to the references and resources provided.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the PHKG2 gene and its genetic variants. It provides information on the testing, severity, and changes produced by mutations in this gene. PubMed references a wide range of articles related to glycogen storage disease type IX, also known as PHKG2-related glycogenosis.

There are several genes listed in PubMed that are related to glycogen storage disease. In addition to the PHKG2 gene, other genes such as PHKA1 and PHKA2 encode the subunits of the glycogen phosphorylase enzyme. These genes are also associated with glycogen storage disease type IX. PubMed provides further information on the different types of glycogen storage diseases, their symptoms, and diagnostic tests.

The scientific articles listed on PubMed provide additional resources for researchers and healthcare professionals. These articles include studies on the molecular basis of the disease, clinical manifestations, and potential treatment options. PubMed also catalogs articles on related conditions, such as liver cirrhosis and other glycogen storage diseases.

For those interested in more in-depth information, PubMed provides access to advanced search options and filters to narrow down the search results. This allows users to find articles specific to their research interests or clinical questions.

In summary, PubMed is a valuable tool for accessing scientific articles related to the PHKG2 gene and its genetic variants. It provides a wealth of information on glycogen storage diseases, including glycogen storage disease type IX. Researchers and healthcare professionals can use PubMed to stay updated on the latest research and resources in the field.

Catalog of Genes and Diseases from OMIM

In this catalog, you can find information about the PHKG2 gene and its related diseases listed in OMIM (Online Mendelian Inheritance in Man), a comprehensive database of human genes and genetic conditions.

The PHKG2 gene is responsible for producing the gamma-2 subunits of phosphorylase kinase, an enzyme involved in the storage and release of glycogen. Mutations in this gene can lead to a type IX glycogen storage disease, a rare genetic disorder characterized by severe liver disease including cirrhosis.

In this catalog, you will find articles and information from OMIM on the PHKG2 gene, including genetic variant names, disease names, and additional resources for testing and information. The catalog also includes references to scientific articles available in PubMed.

For more information on specific diseases associated with the PHKG2 gene, please refer to the OMIM database and other genetic databases and resources.

Key Information:

• Gene: PHKG2
• Disease: Type IX glycogen storage disease
• Function: Production of gamma-2 subunits of phosphorylase kinase
• Glycogen Storage Conditions: Cirrhosis, severe liver disease

Resources:

• OMIM – Online Mendelian Inheritance in Man (https://www.omim.org)
• PubMed – National Library of Medicine’s database of scientific articles (https://pubmed.ncbi.nlm.nih.gov)
• Genetics Home Reference – Information on genetic conditions and genes (https://ghr.nlm.nih.gov/)
• GeneTests – Medical genetics information and testing (https://www.genetests.org)

Please note that this catalog provides an overview of the PHKG2 gene and related diseases, but for more detailed information and testing options, it is recommended to consult the OMIM database and other reliable sources.

Gene and Variant Databases

In the field of genetics, gene and variant databases play an important role in the storage and cataloging of information related to specific genes and their variations. This kind of database is particularly relevant for rare genetic disorders such as glycogenosis, where individual genes and their variants can have a significant impact on disease severity and treatment options.

One such gene database is the PHKG2 gene database, which focuses specifically on the gamma-2 subunit of the phosphorylase kinase enzyme. The PHKG2 gene is associated with glycogen storage diseases, specifically type IX, which can result in liver cirrhosis and other severe health conditions.

The database provides a registry of genetic changes and variants in the PHKG2 gene, as well as additional information on related genes and their variant subunits. This allows researchers and clinicians to access comprehensive information on glycogen storage diseases and related genetic conditions.

The PHKG2 gene database lists information including gene names, variant names, OMIM references, and links to scientific articles produced from this research. It also provides details on genetic testing options and recommendations for patients with suspected glycogen storage diseases.

For further resources, researchers and clinicians can explore other gene and variant databases that provide information on a wide range of genetic conditions. These databases often include information on disease-causing genes, variant classifications, and references to relevant scientific articles from PubMed and other reputable sources.

Overall, gene and variant databases are crucial tools for understanding the genetic complexity of diseases like glycogen storage disorders. They assist in the identification of disease-causing genes and variants, support genetic testing efforts, and aid in the development of targeted therapies for patients with these conditions.

References

• Registry, databases, and storage:
• PubMed, listed in the OMIM catalog of human genes and genetic diseases.
• Glycogen type IX gamma-2 disease:
• Cirrhosis tests and more for genes and genetic diseases.
• Other types of genetic testing resources and information on liver-related conditions.
• Complexity of liver-related conditions and glycogen storage diseases.
• Epub articles produced in scientific publications.
• Additional information on glycogen metabolism and glycogenosis.
• Gene variant names and subunits of the PHKG2 gene.
• References from OMIM:
• Phosphorylase kinase deficiency and related conditions.
• Health information on glycogen storage diseases.
• OMIM catalog of genetic diseases and associated genes.