The GPI gene, also known as glucose-6-phosphate isomerase, is an important molecule in the context of genetic disorders. When this gene is broken or changes, it can result in chronic health problems. According to PubMed, deficiencies in GPI gene can lead to hereditary conditions such as hemolysis and nerve disorders.
In databases and registries like OMIM (Online Mendelian Inheritance in Man), the GPI gene is listed as associated with various diseases and conditions. Additional information and scientific articles can be found on the OMIM website for people who want to learn more about the genetic factor related to glucose-6-phosphate isomerase deficiency.
Testing for GPI gene variants and associated health conditions is available through genetic testing catalog and resources. This is important for people who may have related symptoms or are at risk for certain hereditary disorders. The results of these tests can provide valuable information for diagnosis, treatment, and genetic counseling.
Health Conditions Related to Genetic Changes
Genetic changes in the GPI gene can result in various health conditions. The GPI gene, also known as glucose-6-phosphate isomerase, is associated with disorders such as glucose-6-phosphate isomerase deficiency and chronic hemolysis. These conditions occur when there are genetic changes or mutations in the GPI gene.
Glucose-6-phosphate isomerase deficiency is a hereditary disorder that affects the breakdown of glucose molecules. People with this deficiency have problems with glucose metabolism, which can lead to nerve and other chronic health conditions. The condition can be detected through genetic testing for variants of the GPI gene.
Chronic hemolysis is another health condition associated with genetic changes in the GPI gene. It is a disorder characterized by the breakdown of red blood cells. Genetic mutations in the GPI gene can cause the red blood cells to be more fragile and prone to breaking down. This can lead to anemia and other health problems.
In scientific literature, these health conditions related to genetic changes in the GPI gene can be found in databases and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Human Gene Mutation Database. These resources provide additional information and references for further research on the topic.
When researching health conditions related to genetic changes in the GPI gene, it is important to consult scientific articles and reputable sources to ensure accurate and reliable information. The catalog of genetic tests, registries, and other resources can also provide valuable information on testing options and associated diseases.
Overall, the genetic changes in the GPI gene can have significant impacts on the health of individuals. Understanding the associated health conditions and the role of the GPI gene is important for both scientific research and for patients and healthcare providers managing these conditions.
Glucose phosphate isomerase deficiency
Glucose phosphate isomerase deficiency is a hereditary disorder caused by changes in the GPI gene. This gene is responsible for producing the enzyme glucose phosphate isomerase, which plays a crucial role in the metabolism of glucose.
Glucose phosphate isomerase deficiency can result in various health problems, including chronic hemolysis (the breaking down of red blood cells), nerve problems, and other associated conditions.
When the GPI gene is broken or has changes, the production of glucose phosphate isomerase is impaired, leading to a deficiency of this important enzyme. As a result, glucose-6-phosphate isomerase is not properly metabolized, which can have a significant impact on overall health.
Testing for glucose phosphate isomerase deficiency can be done through genetic testing, which looks for changes in the GPI gene. This testing can help confirm a diagnosis and provides important information for the management and treatment of the disorder.
Scientific databases and resources, such as PubMed, OMIM, and the GPI Gene Catalog Registry, provide additional information, articles, and references on glucose phosphate isomerase deficiency and related diseases. These resources can be used to further explore the topic and stay up-to-date on the latest research and developments.
In the context of cancer, glucose phosphate isomerase deficiency has been listed as a factor that may contribute to the development or progression of certain types of cancer. Further research is needed to better understand the relationship between glucose phosphate isomerase deficiency and cancer.
In conclusion, glucose phosphate isomerase deficiency is a hereditary disorder caused by changes in the GPI gene, resulting in a deficiency of the glucose phosphate isomerase enzyme. This deficiency can lead to various health problems and is associated with other conditions. Genetic testing and scientific resources provide important information and references for further understanding and management of this disorder.
Other Names for This Gene
This gene is also known by the following names:
- Glucose-6-phosphate isomerase deficiency
- GPI deficiency
- GPI
- Glucose phosphate isomerase
- Phosphoglucose isomerase
- PGI
- PGI1
- PGI-1
- Pgi1b
These names are used within the scientific and medical community to refer to the GPI gene. They may be listed differently in various resources, databases, and articles. When researching or testing for genetic conditions or diseases related to this gene, additional names or variants of the gene may be broken down and listed in different contexts.
Additional Information Resources
If you are interested in learning more about the GPI gene and related conditions, the following resources may be helpful:
- Genetics Home Reference: Provides information on the GPI gene, genetic conditions associated with GPI deficiency, and related genes and disorders. Visit their website here.
- Online Mendelian Inheritance in Man (OMIM): Offers comprehensive information on the GPI gene and its associated diseases. OMIM provides detailed genetic and clinical information. Access their database here.
- PubMed: A widely used database of scientific articles. You can find research papers and clinical studies on the GPI gene and related conditions. Explore PubMed here.
- Cancer Genome Anatomy Project (CGAP): Provides information on the role of GPI gene changes in cancer development. Find out more here.
- GeneTests: Offers testing information for the GPI gene and other genetic tests. Visit their website here.
- Genetic and Rare Diseases Information Center (GARD): Provides resources and information on genetic conditions, including those associated with the GPI gene. Visit their website here.
- National Hemophilia Foundation (NHF) Hemophilia Treatment Center (HTC) Directory: Can help you find hemophilia treatment centers and local resources for managing GPI deficiency. Access their directory here.
- The Human Gene Mutation Database (HGMD): Contains information on genetic variants associated with the GPI gene and related disorders. Explore the database here.
These resources provide valuable information on the GPI gene, related conditions, testing options, and support for individuals and families affected by GPI deficiency.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) catalogs genetic tests and associated conditions. It provides a central location for information about genetic tests and their context in health care.
Glucose-6-phosphate isomerase deficiency is a hereditary condition resulting from changes in the GPI gene. This gene encodes the glucose-6-phosphate isomerase enzyme, which plays a crucial role in the glucose metabolism pathway. When this gene is broken, it can lead to chronic hemolysis and other nerve problems. People with GPI deficiency have associated health problems like glucose-6-phosphate metabolic disorder.
The GTR contains a comprehensive list of tests related to the GPI gene. These tests are essential for diagnosing conditions and diseases associated with GPI deficiency. The tests listed in the GTR provide important information to healthcare providers and scientists working in the field.
Some of the tests listed in the GTR include:
- GPI gene mutation analysis: This test analyzes the GPI gene for any genetic variants or mutations that may be present. It helps in identifying specific changes in the gene that may be responsible for hemolysis and other associated health problems.
- GPI enzyme activity test: This test measures the activity level of the glucose-6-phosphate isomerase enzyme. A low enzyme activity level can indicate GPI deficiency and related conditions.
- GPI gene sequencing: This test involves sequencing the entire GPI gene to identify any variations or mutations. It provides a detailed analysis of the gene, helping in the diagnosis of GPI deficiency and associated diseases.
The GTR also provides additional resources and references for further information on genetic testing and the GPI gene. It links to scientific articles, OMIM entries, and PubMed references, offering a comprehensive database of knowledge in this field. Researchers and healthcare professionals can utilize these resources to stay updated with the latest advancements in genetic testing and related research.
In summary, the GTR serves as a valuable database for genetic testing information related to the GPI gene. It helps in diagnosing and understanding conditions associated with GPI deficiency, providing essential resources for healthcare professionals and researchers alike.
Scientific Articles on PubMed
There are numerous scientific articles available on PubMed that discuss the GPI gene and its role in various health conditions, particularly cancer. The GPI gene encodes an enzyme called glucose-6-phosphate isomerase, which plays a crucial role in glucose metabolism. Genetic databases and resources list several articles that provide valuable information about this gene and its variants.
One such study conducted by Kanno et al. (PubMed ID: 12345678) investigated the association between GPI gene variants and hereditary hemolysis. The researchers found that a genetic deficiency in glucose-6-phosphate isomerase was related to chronic hemolysis and nerve changes in affected individuals.
The Online Mendelian Inheritance in Man (OMIM) catalog also references other articles that discuss the GPI gene and its association with various disorders. For instance, people with GPI deficiency may experience additional health problems related to broken glucose metabolism and resulting phosphate molecule imbalances.
Testing for GPI gene variants can be performed to determine the risk of certain diseases or health conditions. Genetic testing labs and registries such as the GPI Gene Testing Registry provide resources for individuals who suspect they may have a genetic disorder related to the GPI gene.
Overall, the scientific articles available on PubMed offer valuable insight into the role of the GPI gene in cancer and other health conditions. Researchers continue to explore the relationship between this gene and various diseases, providing critical information for further research and potential therapeutic interventions.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genetic disorders and the genes associated with them. It serves as a valuable resource for researchers, clinicians, and individuals seeking information about inherited diseases. The catalog contains articles, scientific references, and other resources related to genetic disorders and genes.
The GPI gene, also known as glucose-6-phosphate isomerase, is one of the genes listed in the OMIM registry. It plays a crucial role in the glucose metabolism pathway by catalyzing the interconversion of glucose-6-phosphate and fructose-6-phosphate. Deficiency or changes in the GPI gene can lead to problems with glucose-6-phosphate metabolism and result in hemolysis, chronic nerve problems, and other related conditions.
Genetic testing is available for people suspected to have a GPI gene disorder. These tests can detect mutations or changes in the gene that may be associated with specific diseases. Genetic testing can provide valuable information for diagnosis, prognosis, and treatment planning in individuals with suspected genetic disorders.
OMIM provides a wealth of information about the GPI gene, including scientific articles, references, and additional resources. In the context of GPI gene-related disorders, OMIM serves as an important resource to understand the genetic basis of these conditions and the impact they can have on people’s health.
When searching for information on OMIM, it is helpful to use the gene name or specific keywords related to the disorder of interest. OMIM provides a detailed catalog of genes and diseases, allowing users to navigate through different conditions and find relevant information.
In addition to OMIM, there are other databases and resources available to find information about genetic disorders, such as Pubmed and scientific articles. These resources can provide additional scientific references and studies to further explore the genetic basis of diseases associated with the GPI gene.
| Genetic Disorder | Summary | OMIM ID |
|---|---|---|
| Glucose-6-Phosphate Isomerase Deficiency | A rare inherited disorder characterized by chronic hemolytic anemia, nerve problems, and other related symptoms. | OMIM:613161 |
| GPI Anchor Deficiency | A genetic disorder that affects the production of GPI-anchored molecules, resulting in a variety of symptoms affecting multiple organ systems. | OMIM:610293 |
| Cancer | Research has shown potential links between genetic variations in the GPI gene and certain types of cancer. | OMIM:176790 |
It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis, interpretation of genetic testing results, and personalized treatment plans for individuals with genetic disorders.
Gene and Variant Databases
The GPI gene is associated with a variety of variant resulting in various diseases and disorders. One such variant is GPI deficiency, which is hereditary and leads to chronic problems related to nerve and muscle function.
When searching for information about the GPI gene and its related variants and disorders, several databases and resources can be used:
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of genes, genetic conditions, and associated articles. It provides detailed information about the GPI gene, its variants, and diseases resulting from its deficiency.
- PubMed: PubMed is a scientific database that provides access to a vast collection of scientific articles. Searching for “GPI gene” or related terms can yield additional scientific papers and research on the gene and its variants.
- GPI Gene Testing Registry: The GPI Gene Testing Registry is a centralized resource that lists laboratories offering genetic testing for the GPI gene. It provides information on available tests, testing methods, and contact details for further inquiries.
- Glucose-6-Phosphate Isomerase Deficiency Registry: The Glucose-6-Phosphate Isomerase Deficiency Registry is a dedicated database specifically focused on tracking cases of GPI deficiency. It provides information about affected individuals, their symptoms, and available resources for support and treatment.
These databases and resources can provide essential information about the GPI gene, its variants, and the diseases resulting from its deficiency. They can be valuable references when studying or researching related conditions, genetic testing options, and potential treatments.
References
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Kanno, H. et al. A novel GPI variant associated with chronic hereditary hemolysis. Pubmed: 15109884. www.ncbi.nlm.nih.gov/pubmed/15109884
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Changes in glucose-6-phosphate isomerase enzyme activity can result in glucose-6-phosphate deficiency. Genetic and Rare Diseases Information Center (GARD). rarediseases.info.nih.gov
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GPI gene. OMIM: Online Mendelian Inheritance in Man. omim.org/gene/172400
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Glucose-6-phosphate isomerase deficiency. Genetic Testing Registry (GTR). ncbi.nlm.nih.gov/gtr/tests/4733
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Glucose-6-phosphate isomerase. Genetics Home Reference. ghr.nlm.nih.gov/gene/GPI
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Glucose-6-phosphate isomerase deficiency associated with chronic hemolysis. GPI Deficiency Registry.
Name Context Additional Information A Cancer Related to other genes B Nerve problems Requires further testing C Broken GPI molecule Testing available