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The HPRT1 gene, also known as hypoxanthine phosphoribosyltransferase 1, is a gene that plays a critical role in the recycling of purine nucleotides. Mutations in this gene can lead to various disorders, including Lesch-Nyhan syndrome.

Lesch-Nyhan syndrome is a rare genetic condition characterized by the overproduction of uric acid, neurological abnormalities, and self-injurious behavior. It is caused by mutations in the HPRT1 gene that result in a complete lack of functional hypoxanthine phosphoribosyltransferase enzyme.

The HPRT1 gene is listed in various genetic and scientific databases, including OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry. These resources provide additional information on the gene, its role in various conditions, and references to published articles.

Genetic testing for mutations in the HPRT1 gene can be done to confirm a diagnosis of Lesch-Nyhan syndrome or other related disorders. The testing may involve sequencing the gene to identify changes or variants, or specific tests may be available for known mutation sites.

For more information on the HPRT1 gene, Lesch-Nyhan syndrome, and other related conditions, please refer to the catalogs and databases mentioned above, as well as other scientific articles and health resources.

Genetic changes in the HPRT1 gene, which is responsible for the production of the enzyme hypoxanthine-guanine phosphoribosyltransferase, can lead to several health conditions. Some of these conditions include:

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  • Lesch-Nyhan Syndrome: This rare genetic disorder is characterized by neurological and behavioral abnormalities, including self-mutilation and intellectual disability. It is caused by a deficiency of the HPRT enzyme.
  • Purine Metabolic Disorders: Genetic changes in the HPRT1 gene can disrupt the recycling of purine, leading to an accumulation of hypoxanthine and guanine. This can result in a range of metabolic disorders, such as increased uric acid levels.

Testing for these genetic changes can be done through various scientific resources and databases. Some of the resources that provide information on the HPRT1 gene and related health conditions include:

  1. OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the HPRT1 gene and related conditions.
  2. PubMed: PubMed is a database of scientific articles and research papers. It can be used to find additional information on the HPRT1 gene and related health conditions through scientific studies.
  3. HPRT1 Gene Variant Databases: Specific databases and registries dedicated to the HPRT1 gene and its variants can provide more specific information on genetic changes and associated health conditions.

Genetic testing for diseases related to the HPRT1 gene can be performed to identify specific changes and provides important information for diagnosis and treatment. Additionally, resources like the Lesch-Nyhan Syndrome International Registry can provide support and resources for individuals and families affected by these conditions.

In conclusion, genetic changes in the HPRT1 gene can lead to several health conditions, including Lesch-Nyhan Syndrome and purine metabolic disorders. Scientific resources like OMIM and PubMed can provide information on these conditions, while genetic testing can help identify specific changes for diagnosis and treatment.

Lesch-Nyhan syndrome

Lesch-Nyhan syndrome is a rare genetic disorder caused by mutations in the HPRT1 gene. It is named after Michael Lesch and William Nyhan, who first described the condition in 1964. Lesch-Nyhan syndrome is characterized by a variety of symptoms and abnormalities, including neurological, cognitive, and behavioral features.

The condition is one of several in a catalog of genetic disorders known as purine and pyrimidine metabolism disorders. These disorders are related because they involve abnormalities in the way the body processes purines and pyrimidines, which are building blocks of DNA and RNA.

See also  Hennekam syndrome

Lesch-Nyhan syndrome is caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). This enzyme is involved in the recycling of purines, converting hypoxanthine and guanine into their corresponding nucleotides to be used again in the synthesis of DNA and RNA.

People with Lesch-Nyhan syndrome have a dysfunctional HPRT enzyme, leading to an accumulation of hypoxanthine and guanine in the body. These compounds are then converted to uric acid, resulting in extremely high levels of uric acid in the blood and urine.

The signs and symptoms of Lesch-Nyhan syndrome can vary in severity, but commonly include neurologic manifestations, such as dystonia (involuntary muscle contractions), choreoathetosis (involuntary, jerky movements), and spasticity (abnormal muscle stiffness). Behavioral features may include self-injury, aggression, and compulsive behaviors.

Diagnosis of Lesch-Nyhan syndrome is typically based on the characteristic signs and symptoms, as well as biochemical testing to measure HPRT enzyme activity and urine analysis to detect elevated levels of uric acid. Genetic testing can also be performed to identify mutations in the HPRT1 gene.

There is currently no cure for Lesch-Nyhan syndrome, and treatment primarily focuses on managing symptoms through medications, physical therapy, and behavioral interventions. In some cases, allopurinol may be prescribed to reduce the production of uric acid.

For more information on Lesch-Nyhan syndrome and related diseases, the following resources may be helpful:

  • Online Mendelian Inheritance in Man (OMIM) – a comprehensive database of human genes and genetic disorders, including Lesch-Nyhan syndrome (OMIM entry number: 308000).
  • The Human Gene Mutation Database – a collection of information about human gene mutations and their effects on health.
  • PubMed – a database of scientific articles on various topics, including Lesch-Nyhan syndrome.

Additional references and articles on Lesch-Nyhan syndrome can be found in scientific journals and health resources.

Other disorders

The HPRT1 gene is associated with various genetic disorders. Mutations in this gene can cause Lesch-Nyhan syndrome, which is a rare inherited condition characterized by abnormal uric acid production and neurological abnormalities. Individuals with Lesch-Nyhan syndrome often exhibit self-injurious behaviors, intellectual disability, and motor abnormalities.

In addition to Lesch-Nyhan syndrome, mutations in the HPRT1 gene have also been found to be associated with other disorders. These include hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency, which is a milder form of Lesch-Nyhan syndrome, as well as other conditions related to purine metabolism.

To diagnose these disorders, genetic testing can be performed to identify changes or mutations in the HPRT1 gene. Genetic testing can help confirm a diagnosis, provide information about disease progression, and guide treatment options.

There are several resources available for individuals and families affected by HPRT1 gene disorders. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders, including HPRT1-related conditions. The Genetic Testing Registry (GTR) lists genetic tests available for HPRT1 gene mutations and related disorders.

Additional information on HPRT1 gene disorders can also be found through scientific research articles in PubMed, as well as in other databases and resources dedicated to genetic conditions. These resources can help individuals and healthcare professionals stay updated on the latest research and advances in the field.

Other Names for This Gene

The HPRT1 gene is also known by other names:

  • Hypoxanthine-guanine phosphoribosyltransferase 1
  • HGPRT
  • Lesch-Nyhan syndrome
  • HPRT
  • Gout and HPRT-related
  • Purine recycling defect in HPRT deficiency
  • LNS
  • HPRT-related neurological disorder
  • Hypoxanthine guanine phosphoribosyltransferase
  • HPRT1 variants
  • Hypoxanthine guanine phosphoribosyltransferase 1
  • Hypoxanthine-guanine phosphoribosyltransferase
  • HPRT1 gene
  • HGPRT deficiency
  • Hyperuricemia and HPRT-related
  • Purine recycling defect
  • HGPRTase
  • IMPRTase

These names can be found in various references, databases, and resources related to genetic conditions. They are used to identify the gene and its associated syndromes and diseases. Medical professionals, researchers, and individuals seeking information about HPRT1 gene-related conditions can use these names to access relevant articles, scientific studies, testing resources, and genetic databases like OMIM and PubMed.

Additional Information Resources

Here is a list of additional resources that provide information on the HPRT1 gene, its related disorders, and testing:

  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive database that provides information on genetic diseases and conditions. The HPRT1 gene and related disorders, such as Lesch-Nyhan syndrome, are listed on OMIM.
  • Genetic Testing Registry – The Genetic Testing Registry is a database of genetic tests and their associated genes. The HPRT1 gene and tests for hypoxanthine-guanine recycling disorders are listed on this registry.
  • PubMed – PubMed is a database of scientific articles and references. Searching for “HPRT1 gene” or related terms can provide access to research articles on this gene and its variants.
  • The Catalog of Human Genes and Genetic Disorders – This catalog provides information on genes and genetic conditions. The HPRT1 gene and related disorders are included in this catalog.
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These resources can provide more information on the HPRT1 gene, its associated conditions, testing options, and related research articles.

Tests Listed in the Genetic Testing Registry

Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated genes. It provides a comprehensive listing of tests available for various genetic conditions and disorders. In the context of the HPRT1 gene, GTR lists the following tests:

Test Variant(s) Condition(s) Additional Information
HPRT1 Gene Sequencing Changes in the HPRT1 gene Lesch-Nyhan Syndrome Testing for mutations in the HPRT1 gene associated with Lesch-Nyhan Syndrome.
Uric Acid Recycling Related Genes Panel Changes in genes related to purine metabolism Conditions related to hypoxanthine and uric acid metabolism Testing for variations in genes involved in the recycling of hypoxanthine and uric acid.

The GTR also provides resources such as articles, references, and scientific information on these tests and related genes. It serves as a useful tool for researchers, healthcare professionals, and individuals seeking genetic testing information.

For more information on these tests and others, please visit the Genetic Testing Registry at https://www.ncbi.nlm.nih.gov/gtr/.

Scientific Articles on PubMed

The HPRT1 gene is associated with a variety of diseases listed in the OMIM database and other scientific articles related to health. Additional information on the gene and its variant can be found in the HPRT1 gene entry in the OMIM catalog.

Genetic tests for Lesch-Nyhan syndrome, a condition caused by mutations in the HPRT1 gene, are available and can be used for diagnostic purposes. These tests can detect changes in the HPRT1 gene and provide valuable information for testing and managing individuals with this condition.

Scientific articles on PubMed also provide references to other genes and conditions related to HPRT1. The hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme, encoded by the HPRT1 gene, is involved in the recycling of purine molecules. Mutations in this gene can lead to genetic disorders characterized by an accumulation of purine metabolites, such as uric acid.

PubMed resources include databases of scientific articles previously published on HPRT1 and related genes. These databases can be helpful in finding more information on the condition, including diagnostic tests, names of associated genetic disorders, and changes in genetic variants.

Furthermore, the HPRT1 gene is part of the OMIM registry and is linked to the Lesch-Nyhan syndrome condition. The OMIM catalog provides a comprehensive overview of genetic disorders and their associated genes, including HPRT1 and Lesch-Nyhan syndrome.

Overall, scientific articles on PubMed provide a valuable source of information on the HPRT1 gene, its role in genetic disorders, and the conditions associated with mutations in this gene. Researchers and healthcare professionals can utilize these resources to stay updated on the latest research and advancements in the field of HPRT1-related diseases.

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic disorders. It provides valuable information on genetic conditions and related genes, including the HPRT1 gene.

The HPRT1 gene, also known as hypoxanthine-guanine phosphoribosyltransferase 1, is responsible for a crucial enzyme involved in the recycling of purine bases. Mutations in this gene can lead to HPRT-related diseases, the most well-known being Lesch-Nyhan syndrome.

In the OMIM catalog, you can find a wealth of information on the HPRT1 gene and its associated diseases. The catalog includes articles, references, health testing resources, and other valuable scientific information.

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For more information on the HPRT1 gene and its variant related to Lesch-Nyhan syndrome, you can search the OMIM catalog using the provided gene name or gene ID. The catalog provides a comprehensive overview of the gene’s function, related diseases, and available testing options.

In addition to the OMIM catalog, there are other databases and resources available for genetic testing and information. These resources can provide further insight into the HPRT1 gene, its variants, and related conditions.

By exploring the OMIM catalog and these additional resources, scientists, researchers, and healthcare professionals can gain a better understanding of the HPRT1 gene and its role in health and disease.

References for articles and studies listed in the OMIM catalog are also provided, allowing users to access the scientific literature on HPRT1 gene changes, hypoxanthine-guanine recycling, and related conditions.

For access to more genetic information and testing options, the OMIM catalog provides links to other databases and resources. These resources include PubMed, which offers a vast collection of scientific articles and studies on genetic disorders and the HPRT1 gene.

The catalog serves as a comprehensive source for genetic information, disorders, and testing options. It is a valuable tool for researchers, healthcare professionals, and individuals seeking information on the HPRT1 gene and related conditions.

Gene Disease Variant
HPRT1 Lesch-Nyhan syndrome Variant X
HPRT1 Other related conditions Variant Y

In conclusion, the OMIM catalog offers a comprehensive catalog of genes and diseases, including the HPRT1 gene and its variants. It provides a wealth of information on genetic conditions, gene names, and related diseases. Through this catalog and the associated resources, users can access valuable genetic information, scientific articles, testing options, and references. The catalog serves as an essential tool for researchers, healthcare professionals, and individuals seeking information on genetic disorders and the HPRT1 gene.

Gene and Variant Databases

Hypoxanthine-guanine phosphoribosyltransferase 1 (HPRT1) is a gene that plays a crucial role in purine metabolism. Mutations in this gene can lead to various disorders, including Lesch-Nyhan syndrome, a genetic syndrome characterized by neurological and behavioral abnormalities.

To better understand the genetic changes associated with HPRT1 and related conditions, several databases and resources provide valuable information. Here are some of the key databases and resources listed below:

  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about HPRT1 and related conditions, including clinical features, inheritance patterns, and associated genes.
  • PubMed: PubMed is a database of scientific articles and publications. Searching for HPRT1 and related keywords can provide additional information about the gene’s function, its role in various conditions, and ongoing research in the field.
  • GeneTests: GeneTests is a resource that offers information about genetic testing for various diseases. It provides a list of laboratories offering tests for HPRT1 gene mutations and related conditions, along with additional resources for individuals seeking genetic testing.
  • Genetic and Rare Diseases Information Center (GARD): GARD provides easy-to-understand information about genetic conditions and diseases. It offers information about Lesch-Nyhan syndrome and related disorders, including symptoms, treatment options, and available support groups for affected individuals and their families.

These databases and resources gather information from various sources and provide comprehensive information about HPRT1 gene and its associated conditions. They can be valuable tools for researchers, healthcare professionals, and individuals seeking information about genetic conditions and testing options.

References

Other Resources:

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