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The XDH gene, also known as the Xanthine Dehydrogenase gene, is a genetic gene that is responsible for encoding the xanthine dehydrogenase enzyme. This enzyme plays a crucial role in the breakdown of purines, which are important building blocks of DNA and RNA. Mutations in the XDH gene can cause a variety of genetic conditions and diseases.

Genetic tests for the XDH gene can be performed to detect variant or classical conditions associated with the gene. These tests can be conducted using various resources and databases such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry. Additionally, there are other references and scientific articles available for further information on the XDH gene and its related health conditions.

Xanthinuria is one of the hereditary conditions that can be caused by changes in the XDH gene. This condition is characterized by the accumulation of xanthine and other purine metabolites in the urine, leading to kidney stones and other health problems. Additional genetic conditions and diseases related to the XDH gene are listed in scientific catalogs and databases.

Testing for genetic changes in the XDH gene is essential for the diagnosis and management of xanthinuria and other related conditions. This information can help healthcare professionals provide appropriate treatment and genetic counseling to individuals and families affected by these conditions.

Genetic changes in the XDH gene can lead to various health conditions. Below are some of the health conditions that have been listed in scientific articles and genetic databases:

  • Xanthinuria: This is a hereditary condition caused by genetic changes in the XDH gene. It is characterized by the inability to break down certain substances called purines, resulting in the buildup of xanthine and uric acid in the body.
  • Other related diseases: Genetic changes in the XDH gene have also been associated with additional health conditions, although the exact relationships are not fully understood.

Resources for genetic testing, information, and registry of these conditions can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide access to scientific articles, references, and other relevant information on genetic changes and related health conditions.

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Genetic testing can help identify individuals with genetic changes in the XDH gene, allowing for early detection and management of these conditions. It is important to consult with healthcare professionals and genetic counselors for further evaluation and guidance.

Hereditary xanthinuria

Hereditary xanthinuria is a rare genetic condition that affects the normal metabolism of xanthine, which is a substance found in the body. Xanthine is a byproduct of the breakdown of certain chemicals, including purines.

Classical hereditary xanthinuria is caused by mutations in the XDH gene, which provides instructions for making an enzyme called xanthine dehydrogenase. This enzyme plays a crucial role in the conversion of xanthine to uric acid, another byproduct of purine metabolism.

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If the XDH gene is mutated, xanthine dehydrogenase activity is reduced or absent, leading to the accumulation of xanthine in the body. This can result in the development of kidney stones and other health problems.

Diagnosis of hereditary xanthinuria involves laboratory tests to measure the levels of xanthine in the urine and plasma. Genetic testing can also be performed to identify mutations in the XDH gene.

Additional information about hereditary xanthinuria can be found in the OMIM database, which provides detailed information on genetic conditions and associated genes. PubMed, a database of scientific articles, also contains references to articles related to hereditary xanthinuria.

The Genetic Testing Registry (GTR) is another resource that lists genetic tests that can be used to diagnose hereditary xanthinuria. GTR provides information on the availability, validity, and usefulness of genetic tests for various diseases.

Other genes may also be associated with xanthinuria, and their mutations can cause similar health problems. The Catalog of Human Genes and Genetic Disorders is a comprehensive resource that provides genetic information on various conditions, including xanthinuria.

In summary, hereditary xanthinuria is a rare genetic condition that affects the normal metabolism of xanthine. Mutations in the XDH gene can cause this condition, leading to the accumulation of xanthine in the body. Laboratory tests, genetic testing, and resources such as OMIM, PubMed, GTR, and the Catalog of Human Genes and Genetic Disorders can provide additional information and references on hereditary xanthinuria and related genetic conditions.

Other Names for This Gene

The XDH gene is also known by other names:

  • XDH1
  • Xan
  • XO
  • Xanthine dehydrogenase
  • Xanthine oxidase

For more information on this gene, you can visit the following resources:

  • Gene Cards: XDH
  • Genetic Testing Registry: XDH
  • OMIM: 607633
  • PubMed: XDH

Other articles and references related to the XDH gene and xanthinuria can be found in scientific journals and databases, such as OMIM, PubMed, and Gene Cards. Genetic testing and variant catalog databases also provide additional resources on XDH and related genetic conditions and diseases.

Additional Information Resources

For additional information on XDH gene, Xanthinuria and other related hereditary diseases, the following resources may be useful:

  • Genetic Testing: Tests for XDH gene variants and related conditions can be performed by specialized laboratories. Consult with a healthcare provider for more information on genetic testing options.
  • Registry: There might be a disease-specific registry or patient support group that can provide further information and connect individuals with Xanthinuria and related conditions.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive and authoritative database that provides detailed information on genetic disorders and genes. OMIM might have relevant articles and references on XDH gene mutations and associated diseases.
  • PubMed: PubMed is a database of scientific articles that can be searched for publications on XDH gene variations, Xanthinuria, and related conditions.
  • Genetic Catalog: Genetic databases such as the Genetic Testing Registry might contain information on XDH gene variants and their association with diseases.

It is important to note that the information provided in the listed resources should not replace professional medical advice. Always consult with a healthcare provider or genetic counselor for personalized information and guidance regarding XDH gene variants, testing, and related health conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a health database that lists various genetic tests available for different diseases and conditions. It provides additional information on the tests, including their purpose, the genes being tested, and the genetic changes they look for.

The GTR contains a wide range of tests for various genetic diseases and conditions. Some of the diseases listed in the GTR include Xanthinuria, Hereditary Classical Homocystinuria, and other related conditions. The tests listed in the GTR can help determine if a person has a variant in the XDH gene, which is known to cause Xanthinuria and related conditions.

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The tests listed in the GTR are backed by scientific research and resources. They have been referenced in scientific articles and publications, and their results can be used for diagnostic purposes. The GTR also provides links to additional resources, such as the Online Mendelian Inheritance in Man (OMIM) database, for more information on specific conditions.

The GTR is a valuable tool for healthcare professionals and individuals interested in genetic testing. It provides a comprehensive catalog of genetic tests and related information, making it easier to access and interpret genetic test results.

For more information on the tests listed in the GTR, you can visit the official GTR website or search through the various databases, such as PubMed and other genetic testing resources. These resources can provide more in-depth information on the tests, the genes being tested, and the conditions they can help diagnose.

Tests for Xanthinuria and related conditions listed in the GTR
Test Name Genes Diseases References
Test 1 XDH Xanthinuria Reference 1, Reference 2
Test 2 XDH Xanthinuria Reference 3, Reference 4
Test 3 XDH Xanthinuria Reference 5, Reference 6

Note: The above table provides a simplified example and does not reflect the full list of tests available in the GTR.

Scientific Articles on PubMed

The XDH gene, also known as xanthine dehydrogenase gene, is implicated in the genetic disorder xanthinuria. Xanthinuria is a classical hereditary condition that affects the metabolism of purine bases, leading to the overproduction of xanthine and accumulation of uric acid in the body.

Health professionals can find information on xanthinuria, including the genetic changes associated with the disease, in the OMIM database. OMIM is a catalog of human genes and genetic disorders that provides references to scientific articles, resources, and other relevant information.

Testing for xanthinuria and related diseases can be conducted using various genetic tests listed in the OMIM database. These tests help identify changes and variants in the XDH gene that may cause or be related to xanthinuria and its associated conditions.

Scientific articles on xanthinuria and the XDH gene can be found on PubMed, a database of biomedical literature. PubMed provides access to a wide range of research papers, reviews, and case studies on xanthinuria, including its causes, symptoms, and treatment options.

For additional information on xanthinuria, health professionals can refer to the Xanthinuria Registry. The registry compiles and maintains data on individuals with xanthinuria, offering a valuable resource for research and clinical management of the condition.

References:

  1. OMIM database: https://omim.org/
  2. PubMed database: https://pubmed.ncbi.nlm.nih.gov/
  3. Xanthinuria Registry: http://www.xanthinuria.org/

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive online catalog of genes and diseases. It provides genetic and scientific information about various diseases and genes.

OMIM offers a wide range of resources for researchers, clinicians, and individuals interested in genetic diseases. It includes information on the genetic cause, clinical features, inheritance pattern, and related health issues for genes and diseases.

This catalog lists genetic changes and disease names from scientific articles, genetic testing databases, and other resources. It provides additional information on genes and diseases, such as the variant names, pubmed references, and available genetic testing.

One of the diseases listed in OMIM is xanthinuria, a genetic disorder characterized by the inability to break down xanthine into uric acid. This condition can cause the accumulation of xanthine in the body, leading to the formation of xanthine stones in the urinary tract.

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The classical hereditary form of xanthinuria is caused by mutations in the XDH gene. Changes in this gene can also cause other related diseases, such as xanthine dehydrogenase deficiency and xanthine oxidase deficiency.

OMIM provides a registry of genetic testing laboratories that offer tests for the XDH gene and related disorders. It also includes references to scientific articles and pubmed links for further reading on the topic.

The catalog from OMIM is a valuable resource for researchers, clinicians, and individuals interested in genetic diseases. It provides comprehensive information on genes and diseases, and helps in understanding the genetic basis of various health conditions.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and clinicians studying the XDH gene and related conditions such as xanthinuria.

The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and genetic disorders, including information on the XDH gene and associated conditions. OMIM contains detailed descriptions of the genes, variants, and their clinical manifestations.

Other databases, such as the Human Gene Mutation Database (HGMD), also provide information on genetic changes associated with xanthinuria and other diseases. These databases list known mutations and variations in the XDH gene and provide references to scientific articles and other resources for further information.

Gene and variant databases play a crucial role in genetic testing and diagnosis. Clinicians can use these databases to identify the genetic cause of xanthinuria and related conditions. By comparing a patient’s genetic data to the information listed in the databases, healthcare professionals can determine if specific genetic changes are responsible for the patient’s health conditions.

In addition to gene-specific databases, there are also general genetic databases, such as the National Center for Biotechnology Information’s (NCBI) Gene database, that provide comprehensive information on genes, their functions, and associated diseases. These databases serve as valuable resources for researchers and clinicians seeking information on the XDH gene.

In summary, gene and variant databases provide essential information on the XDH gene and its variants. These databases enable researchers and clinicians to better understand the genetic basis of xanthinuria and related conditions and to develop improved diagnostic tests and treatments.

References

  • Genetic Testing Registry (GTR). [Internet]. XDH gene. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; [cited 2021 Mar 24]. Available from: https://www.ncbi.nlm.nih.gov/gene/7498

  • OMIM. [Internet]. Xanthinuria. Johns Hopkins University; [cited 2021 Mar 24]. Available from: https://omim.org/entry/603592

  • PubMed. [Internet]. XDH gene. Bethesda (MD): National Library of Medicine (US); [cited 2021 Mar 24]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=XDH+gene

  • Additional scientific articles related to XDH gene and xanthinuria can be found in various scientific databases such as PubMed.

  • Genetic and Rare Diseases Information Center (GARD). [Internet]. Xanthinuria. Bethesda (MD): National Library of Medicine (US); [cited 2021 Mar 24]. Available from: https://rarediseases.info.nih.gov/diseases/6719/xanthinuria

  • Online Mendelian Inheritance in Man (OMIM). [Internet]. Xanthinuria. Baltimore (MD): Johns Hopkins University; [cited 2021 Mar 24]. Available from: https://www.omim.org/entry/603592

  • XDH gene. [Internet]. Genetics Home Reference. Bethesda (MD): National Library of Medicine (US); [updated 2021 Feb 2; cited 2021 Mar 24]. Available from: https://ghr.nlm.nih.gov/gene/XDH

  • XDH gene testing. [Internet]. Genetic and Rare Diseases Information Center (GARD). Bethesda (MD): National Library of Medicine (US); [updated 2018 Aug 21; cited 2021 Mar 24]. Available from: https://rarediseases.info.nih.gov/diseases/6719/xanthinuria/cases/39226#ref_22763

  • Xanthinuria. [Internet]. Genetic and Rare Diseases Information Center (GARD). Bethesda (MD): National Library of Medicine (US); [updated 2020 June 18; cited 2021 Mar 24]. Available from: https://rarediseases.info.nih.gov/diseases/6719/xanthinuria

  • Xanthinuria. [Internet]. Genetics Home Reference. Bethesda (MD): National Library of Medicine (US); [updated 2021 Feb 2; cited 2021 Mar 24]. Available from: https://ghr.nlm.nih.gov/condition/xanthinuria

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