GRHPR is a gene that encodes the enzyme glyoxylate reductase/hydroxypyruvate reductase, which is primarily expressed in the kidney. The GRHPR gene plays a crucial role in the metabolism of glyoxylate and hydroxypyruvate, by converting them into glycolate and glycerate, respectively. It is involved in the pathway of oxalate metabolism and mutations in this gene can lead to primary hyperoxaluria type 2, a rare genetic disease characterized by the overproduction and excretion of oxalate.

Genetic testing for mutations in the GRHPR gene is available as a diagnostic tool for identifying the genetic cause of primary hyperoxaluria type 2. This testing can be done in specialized genetic testing laboratories, and the results can provide important information for healthcare professionals and individuals affected by this condition.

Additional resources for information on the GRHPR gene and related diseases and conditions can be found in scientific databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide a catalog of genetic variants, references to scientific articles, and other valuable resources for studying the GRHPR gene and its role in health and disease.

Furthermore, there are registries and organizations dedicated to providing information, support, and resources for individuals and families affected by primary hyperoxaluria and related conditions. These resources can be accessed for additional information and support in managing and understanding this genetic condition.

Genetic changes in the GRHPR gene can lead to various health conditions. GRHPR stands for glyoxylate and hydroxypyruvate reductase, which is an enzyme involved in the metabolism of glyoxylate and hydroxypyruvate, compounds that are excreted in urine. Mutations in the GRHPR gene can cause primary hyperoxaluria type 2, also known as primary hyperoxaluria type II or primary hyperoxaluria with late onset.

Primary hyperoxaluria type 2 is a rare genetic disorder characterized by the overproduction and accumulation of a compound called oxalate in the kidneys and other organs. Excessive oxalate can lead to the formation of kidney stones and damage to the kidneys. Symptoms of primary hyperoxaluria type 2 typically appear later in life, usually in the second or third decade of life. The severity of the condition can vary, with some individuals experiencing mild symptoms and others experiencing more severe kidney problems.

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To learn more about primary hyperoxaluria type 2 and other health conditions related to genetic changes, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the GRHPR gene, including its function, associated diseases, and related genes. The OMIM database also includes references to scientific articles and other sources of information.

In addition to OMIM, other databases and resources can provide further information on health conditions related to genetic changes. PubMed, a database of scientific articles, can be searched for specific research articles on GRHPR gene mutations and associated diseases. There are also genetic testing companies that offer testing for changes in the GRHPR gene and other genes associated with kidney diseases and related conditions.

When searching for information on health conditions related to genetic changes, it is important to use the scientific names and terms associated with the condition. Different names and terms may be used to refer to the same condition or gene in different resources and databases. By using the proper names and terms, it becomes easier to find accurate and relevant information on the topic.

In summary, genetic changes in the GRHPR gene can cause health conditions such as primary hyperoxaluria type 2. The OMIM database and PubMed are valuable resources for accessing scientific information on these conditions. Genetic testing may also be available for individuals who suspect they have a genetic change in the GRHPR gene or related genes.

See also  ATM gene

Primary hyperoxaluria

Primary hyperoxaluria is a rare genetic condition caused by changes in the GRHPR gene, which encodes the glyoxylate reductase/hydroxypyruvate reductase enzyme. This enzyme plays a key role in the metabolism of glyoxylate, a compound excreted in urine as oxalate. When the GRHPR gene is mutated, it results in the accumulation of oxalate in the body, leading to the development of primary hyperoxaluria type 1.

Primary hyperoxaluria is listed in genetic databases like OMIM and is associated with a number of other health conditions. It is important to identify and diagnose primary hyperoxaluria early in order to prevent the progression of the disease and its associated complications.

Different tests, including genetic testing, can be used to diagnose primary hyperoxaluria. Genetic testing can identify variants in the GRHPR gene that are associated with the condition. Other tests, such as urine tests, can measure the levels of oxalate excreted in urine.

In order to provide accurate and up-to-date information on primary hyperoxaluria, various resources can be consulted. These include scientific articles on PubMed, which provide information on the genetics, causes, and treatment options for primary hyperoxaluria. Additionally, disease registries and health organizations can offer valuable information about primary hyperoxaluria and related health conditions.

References:

  1. Bollee G, Salomon R, Antonio LC, et al. (2010). Primary hyperoxaluria type 1: Update and additional mutation analysis of the AGXT gene. Hum Mutat. 31(4):423-32.
  2. Kuemmerle NB, Driscoll CM, Narins RG (2014). Kidney stones: pathophysiology and medical management. Lancet. 384(9953):1296-1305.
  3. Lieske JC (2008). Introduction to primary hyperoxaluria. Kidney Int. 74(7):918-20.

For more information on primary hyperoxaluria, please visit the following resources:

  • OMIM: Online Mendelian Inheritance in Man database. Available at: http://www.omim.org/
  • PubMed: A database of scientific articles and references. Available at: http://www.ncbi.nlm.nih.gov/pubmed/
  • Registry of Rare Diseases: A registry of rare diseases and conditions. Available at: http://www.orpha.net/

Other Names for This Gene

  • GRHPR gene: This is the primary scientific name for the gene.
  • GRHPR variant: It refers to a specific variant of the GRHPR gene.
  • GRHPR genetic reductase: Another name commonly used to describe the gene.
  • Hyperoxaluria type 2 gene: It is named after the genetic condition it is associated with, hyperoxaluria type 2.
  • Hyperoxaluria type 2: It is a genetic disorder primarily affecting the kidney.
  • GRHPR compound mutations: Refers to the presence of multiple genetic changes in the gene.
  • GRHPR-related diseases: Other genetic diseases that are caused by changes in the GRHPR gene.
  • GRHPR oxalosis: Oxalosis is a condition caused by the buildup of oxalate crystals in the body, and GRHPR gene changes can contribute to its development.
  • GRHPR gene testing: Refers to the process of assessing genetic changes in the GRHPR gene to determine their association with certain conditions.

Additional information about the GRHPR gene can be found in various scientific databases, including:

  • OMIM: The Online Mendelian Inheritance in Man is a comprehensive catalog of human genes and genetic disorders.
  • PubMed: A database of scientific articles and references related to health and medicine.

These resources provide valuable information on the function and significance of the GRHPR gene, as well as its role in various conditions.

Additional Information Resources

For additional information on the GRHPR gene and related conditions, you may find the following resources helpful:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic diseases, including those related to the GRHPR gene. You can find detailed descriptions, references, and links to scientific articles on specific genetic conditions. OMIM also includes information on genetic testing and related resources. Visit the GRHPR gene page on OMIM for more information.
  • PubMed: PubMed is a vast database of biomedical literature. It allows you to search for scientific articles on various topics, including research related to the GRHPR gene and its associated conditions. Simply enter relevant keywords, such as “GRHPR gene” or “oxalosis,” to find relevant articles on the topic.
  • Genetic Testing: If you are looking for information on genetic testing for GRHPR-related conditions, you may want to consult genetic testing laboratories or healthcare providers specializing in genetic testing. They can provide information on the types of tests available, the specific genes and variants tested, and the associated costs. Some laboratories may also have online resources and catalogs of genetic tests.
  • Registry: Some diseases and conditions associated with the GRHPR gene may have patient registries or support groups. These can be valuable resources for individuals and families affected by the condition, providing information, support, and resources. Some registries may also collect data for research purposes and facilitate communication between patients, healthcare providers, and researchers.
See also  Chromosome 18

These are just a few examples of resources available for obtaining additional information on the GRHPR gene and related conditions. It is always a good idea to consult multiple sources, such as reputable scientific websites, healthcare organizations, and support groups, to gather a comprehensive understanding of the topic.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a list of genetic tests for the GRHPR gene, as well as related genes and conditions. These tests are designed to identify changes in the genes that may be associated with a variety of health conditions. By testing for specific genetic variants, healthcare professionals can provide individuals with more accurate diagnoses and personalized treatment plans.

The GRHPR gene, also known as the Hyperoxaluria Reductase gene, is involved in the metabolism of a compound called oxalate. When the GRHPR gene is not functioning properly, oxalate may accumulate in the body, leading to conditions such as primary hyperoxaluria and related kidney diseases.

The GTR offers a wealth of resources and information on genetic testing for the GRHPR gene. In addition to the listing of available tests, the GTR provides access to scientific articles, databases, and other health resources related to genetic testing and genetic diseases.

Healthcare professionals and individuals can use the GTR to search for specific tests by gene name, condition, or variant. The registry provides detailed information on each test, including the laboratory offering the test, the type of test performed, and the conditions for which the test is indicated.

By utilizing the GTR, healthcare professionals can stay up-to-date on the latest advancements in genetic testing for the GRHPR gene and other related genes. This information can aid in the accurate diagnosis and management of conditions caused by genetic changes.

In addition to the GTR, healthcare professionals and individuals can also search for information on genetic testing for the GRHPR gene in other databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide additional references and articles related to the GRHPR gene and its associated conditions.

In conclusion, the GTR is a valuable resource for healthcare professionals and individuals seeking information on genetic testing for the GRHPR gene. By providing a comprehensive listing of available tests, as well as access to additional resources and scientific articles, the GTR supports the advancement of genetic testing for primary hyperoxaluria and related kidney diseases.

Scientific Articles on PubMed

PubMed is a well-known online database that provides a vast collection of scientific articles related to various health conditions. This includes articles on the GRHPR gene and its connection to certain types of diseases.

The GRHPR gene, also known as glyoxylate reductase/hydroxypyruvate reductase, is responsible for encoding the enzyme glyoxylate/hydroxypyruvate reductase. This enzyme plays a crucial role in the metabolism of glyoxylate, which is a compound produced during various biochemical processes in the body.

Changes in the GRHPR gene can lead to a type of genetic disorder called primary hyperoxaluria. This condition is characterized by the overproduction and excretion of oxalate, a compound that can form kidney stones and cause other health problems.

Scientific articles available on PubMed provide additional information about the GRHPR gene, the associated genetic changes that cause primary hyperoxaluria, and the testing resources available for diagnosing this condition. Some articles also discuss other related genes and conditions.

The OMIM (Online Mendelian Inheritance in Man) database, which is listed on PubMed, catalogs the variant names and genetic information related to primary hyperoxaluria caused by changes in the GRHPR gene. It also provides references to scientific articles and other resources for further reading.

In addition to PubMed and OMIM, there are other databases and registries that offer resources and information about the GRHPR gene and its connection to primary hyperoxaluria and related kidney diseases. These resources can be useful for researchers, healthcare professionals, and individuals seeking more information about this genetic condition.

See also  Genes P

Overall, the scientific articles available on PubMed serve as valuable references for understanding the GRHPR gene, its role in health and diseases, and the research and testing done in this field. They contribute to the broader knowledge and understanding of genetic conditions like primary hyperoxaluria.

Catalog of Genes and Diseases from OMIM

Information:

The Catalog of Genes and Diseases from OMIM is a scientific database that provides comprehensive information on genetic disorders and related genes. This catalog contains a wealth of information on various diseases and the genes associated with them.

Databases:

The catalog contains detailed information on a wide range of genetic diseases and includes data from various databases, including the Online Mendelian Inheritance in Man (OMIM) database. It provides a comprehensive overview of the genetic conditions and genes that cause them.

Genetic Reductase:

The GRHPR gene, also known by other names such as Glyoxylate reductase/hydroxypyruvate reductase (dimerizing), is a genetic compound that is associated with primary hyperoxaluria and kidney stones. Changes in this gene can lead to the development of these diseases.

OMIM:

This catalog provides references to articles from the OMIM database, which contains information on various genetic conditions. It includes information on the genes, diseases, and other related information.

Additional Resources:

In addition to OMIM, the catalog also lists other resources for additional information on genetic diseases and related genes. These resources can be used for further research and testing related to health conditions.

Genetic Testing and Health Registry:

The catalog provides information on genetic tests and health registries that can be used for testing and managing genetic conditions. These tests can help identify genetic variations and provide valuable information for healthcare professionals.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals studying the GRHPR gene and related variants. These databases provide comprehensive information on genes, variants, and their associated diseases and conditions. They serve as repositories of scientific literature, genetic testing data, and curated information for easy access and analysis.

Several databases are available that provide information on the GRHPR gene and its variants:

  • PubMed: PubMed is a comprehensive database of scientific literature, including research articles, case studies, and reviews. It is a widely used resource for finding references and information related to the GRHPR gene and its variants.
  • Gene and Variant Databases: These databases specifically focus on genes and variants. They catalog the changes and variants associated with the GRHPR gene and related diseases. Examples of such databases include the Genetic Testing Registry (GTR) and Online Mendelian Inheritance in Man (OMIM).
  • Genetic Testing: Genetic testing resources provide information on the genetic tests available for GRHPR gene variants. They list the tests and conditions for which they are applicable, along with references to scientific articles and other resources.

In addition to the above-mentioned resources, there are various databases that cater to specific aspects of the GRHPR gene and related variants. For example, there are databases focused on the genetic reductase type and those that provide additional information on related compounds and the kidney’s role in primary hyperoxaluria.

These gene and variant databases play a crucial role in the research and understanding of genetic disorders associated with the GRHPR gene. They provide a wealth of information, including scientific articles, genetic testing data, and curated content, which can be instrumental in diagnosing and managing related conditions.

References