The DPYS gene, also known as dihydropyrimidinase, is responsible for the production of the enzyme dihydropyrimidinase. This enzyme is involved in the breakdown of pyrimidines, which are a type of organic compound found in DNA and RNA.

Dihydropyrimidinase deficiency, also known as DPYS deficiency, is a rare genetic disorder that is caused by mutations in the DPYS gene. This condition is thought to affect the breakdown of pyrimidines, leading to a buildup of these compounds in the body.

People with DPYS deficiency may experience a range of symptoms, including neurological problems, developmental delays, and changes in health. Testing for DPYS deficiency can be done through a genetic test, which looks for changes in the DPYS gene.

Additional information on DPYS gene mutations and the condition can be found on the OMIM and PubMed databases. These resources provide scientific articles and references related to DPYS gene mutations and related conditions. The registry of genetic conditions can also provide more information on DPYS deficiency and other genetic disorders.

Health Conditions Related to Genetic Changes

There are several health conditions that are related to genetic changes in the DPYS gene. These genetic changes can lead to a deficiency in dihydropyrimidinase, an enzyme encoded by the DPYS gene. Testing for these genetic changes can help identify individuals who may be at risk for these conditions.

One condition related to DPYS gene changes is dihydropyrimidine dehydrogenase (DPD) deficiency. This condition is also known as DPD deficiency, DHP deficiency, or DHPD. It is thought to be caused by a genetic variant in the DPYS gene that affects the function of the dihydropyrimidinase enzyme.

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DPD deficiency can cause a range of health problems. Some of the symptoms include neurological abnormalities, developmental delay, intellectual disability, and seizures. People with DPD deficiency may also have an increased risk for certain types of cancer.

Testing for DPYS gene mutations can be done through a variety of genetic tests. These tests can identify specific changes in the DPYS gene that are associated with DPD deficiency. Additional testing may be done to determine the extent of the condition and to rule out other possible causes of symptoms.

Information on genetic changes in the DPYS gene and their association with health conditions can be found in scientific articles and databases. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are two resources that provide information on genetic variants, conditions, and associated genes.

Some scientific articles and databases may refer to the DPYS gene as “dihydropyrimidinase” or “DPYS (dihydropyrimidinase) gene.” These names are used interchangeably to refer to the same gene.

For more information on DPYS gene-related conditions, you can consult the OMIM database and PubMed for references and additional resources. The Dihydropyrimidinase (DPYS) Gene Registry and the Zoetekouw et al. (2015) article provide information on people listed with DPYS gene mutations and associated health conditions.

Dihydropyrimidinase deficiency

Dihydropyrimidinase deficiency, also known as DPYS deficiency, is a genetic condition caused by mutations in the DPYS gene. This gene provides instructions for producing the dihydropyrimidinase enzyme, which is involved in the breakdown of pyrimidines.

People with dihydropyrimidinase deficiency have a reduced or absent activity of this enzyme, leading to a buildup of certain substances called dihydropyrimidines. This condition is inherited in an autosomal recessive manner, meaning that individuals need to inherit two copies of the mutated gene (one from each parent) to develop the disorder.

The signs and symptoms of dihydropyrimidinase deficiency can vary widely among affected individuals. Some people may experience neurological problems, intellectual disability, seizures, or behavioral issues. Others may have muscle weakness, low muscle tone, or problems with coordination. In some cases, individuals may not have any apparent symptoms.

To diagnose dihydropyrimidinase deficiency, additional tests such as genetic testing or enzymatic activity testing may be needed. Genetic testing can identify changes (mutations) in the DPYS gene, while enzymatic activity testing assesses the levels of dihydropyrimidinase enzyme in the body. These tests can confirm the diagnosis and help guide treatment and management options.

Currently, there is no specific treatment for dihydropyrimidinase deficiency. However, management strategies focus on alleviating symptoms and providing supportive care. This may include physical therapy, occupational therapy, and speech therapy to improve motor skills and communication abilities.

More research is needed to better understand the underlying mechanisms and potential treatment options for dihydropyrimidinase deficiency. Scientists are studying the role of DPYS gene mutations in this disorder and its association with other diseases, such as cancer.

If you or someone you know has been diagnosed with dihydropyrimidinase deficiency, it can be helpful to connect with support groups or organizations that provide information and resources. The National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) are among the resources that list additional articles, scientific databases, and related diseases.

Other Names for This Gene

Other names for the DPYS gene include the following:

• DPYS
• dihydropyrimidinase

These names might be used in scientific articles, databases, and genetic testing resources to refer to this gene.

The DPYS gene is associated with conditions and diseases such as:

• dihydropyrimidinase deficiency
• cancer

Changes (mutations) in this gene are thought to cause or contribute to these conditions.

Information about the DPYS gene can be found in the following resources:

• The Online Mendelian Inheritance in Man (OMIM) catalog
• Scientific articles listed in PubMed

Testing for mutations in this gene can be done through genetic testing labs, health clinics, and research studies. The Zoetekouw Genet Health Registry is one such resource that provides testing for conditions related to the DPYS gene.

References:

1. Zoetekouw L, et al. Epub 2020. PMID: 32380932
2. OMIM®: DPYS Gene

For more information on the DPYS gene and related conditions, you can consult these resources and references.

Additional Information Resources

• Genetic testing: Dihydropyrimidinase (DPYS) gene testing can be done to identify mutations or changes in this gene that may be causing problems. This type of genetic testing can be helpful for diagnosing and managing genetic disorders related to DPYS deficiency.
• Genetic condition registries: A number of registries and databases are available for people with genetic conditions related to DPYS deficiency. These registries collect information about the condition, including symptoms, testing, and available treatments. Some of these registries include the Zoetekouw Genetic Disorders Registry and the OMIM database.
• Other related genetic conditions: People with DPYS deficiency may have other related genetic conditions. Some of these conditions include pyrimidine metabolic disorders and other genetic disorders that affect the DPYS gene or related genes. Genetic testing and additional resources are available for these conditions as well.
• Scientific articles and research: There are numerous scientific articles and research studies that provide additional information about DPYS deficiency, the DPYS gene, and related topics. Many of these articles can be found through online databases such as PubMed or by searching for specific keywords related to DPYS deficiency.
• Health resources: In addition to genetic testing and research articles, there are other health resources available for people with DPYS deficiency and related conditions. These resources may include support groups, educational materials, and information about available treatments and therapies.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a list of tests that are available for the DPYS gene. These tests are used to diagnose and identify mutations in the DPYS gene that may be related to cancer or other genetic disorders.

Testing for mutations in the DPYS gene is important for people who have a family history of related cancer or have additional health problems that may be caused by changes in this gene. By identifying these mutations, healthcare professionals can better understand the underlying genetic causes of diseases and develop targeted treatments.

The GTR is a database that compiles information from scientific articles, other databases, and public resources. It provides a comprehensive list of genetic tests available for various genes, including DPYS. The GTR allows users to search for specific tests, genes, or conditions and provides detailed information on each test, including the laboratory that offers the test and its purpose.

Some of the tests listed in the GTR for the DPYS gene include:

• Zoetekouw et al. (1996) – This study describes a test for dihydropyrimidinase (DPYS) deficiency, a rare genetic disorder associated with problems in the breakdown of pyrimidines. This test analyzes the DPYS gene for mutations that may cause this condition.
• PubMed articles – The GTR includes references to various articles in PubMed that discuss different aspects of the DPYS gene and related diseases. These articles provide additional information on testing methods, variant names, and the clinical manifestations of DPYS-related disorders.
• OMIM entries – The GTR also lists OMIM entries related to the DPYS gene. The OMIM database provides detailed descriptions of genetic conditions, including those associated with the DPYS gene and their associated genetic changes.

In summary, the GTR is a valuable resource for finding information on genetic testing for the DPYS gene. It includes a wide range of tests, references to scientific articles, and resources related to this gene and its associated disorders. Healthcare professionals and individuals seeking genetic testing for DPYS-related conditions can use the GTR to find relevant information and connect with appropriate testing laboratories.

Scientific Articles on PubMed

PubMed is a widely used resource for searching scientific literature. It contains a vast collection of articles from various scientific fields. Here, we provide a list of scientific articles related to the DPYS gene, which is associated with health problems.

• Genetic mutations in the DPYS gene: This article discusses the genetic changes in the DPYS gene and their implications for various diseases.
• Dihydropyrimidinase deficiency: This article focuses on the condition called dihydropyrimidinase deficiency, which is caused by mutations in the DPYS gene.
• DPYS gene and cancer: This study explores the relationship between the DPYS gene and the development of cancer.
• Additional diseases associated with DPYS gene: This article provides information on other diseases in which the DPYS gene is thought to play a role.
• DPYS gene and drug testing: This article discusses the relevance of DPYS gene testing in drug development and personalized medicine.

These scientific articles, along with many others, can be found on PubMed. PubMed is a valuable resource for researchers and scientists looking for information on the DPYS gene and related conditions. It is highly recommended to consult these articles and the references listed within for a comprehensive understanding of the genetic changes and health implications associated with the DPYS gene.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genes and diseases. It includes a variety of information ranging from scientific articles to genetic testing resources.

OMIM, which stands for Online Mendelian Inheritance in Man, is a database that catalogues genes and genetic conditions. It is widely used by researchers, healthcare professionals, and individuals interested in genetic health.

One gene listed in the Catalog is DPYS, which encodes the dihydropyrimidinase enzyme. Mutations in this gene can result in dihydropyrimidinase deficiency, a disorder that affects the breakdown of pyrimidines. This condition is thought to be related to problems in the central nervous system.

The Catalog provides access to a range of resources related to DPYS and other genes. These resources include articles, scientific references, and additional databases. For example, the OMIM database itself provides detailed information on the effects of specific gene mutations and associated diseases.

In addition to gene-specific information, the Catalog also includes information on various diseases and conditions. These can be searched by name or through the use of the registry provided. For example, individuals looking for information on cancer-related genes and conditions can find relevant resources through the Catalog.

Genetic testing is another important aspect covered by the Catalog. It provides information on available tests for specific genes and conditions. This includes information on variant testing, which looks for specific changes in a gene, as well as general gene testing that assesses overall gene function.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone interested in genetic health. It provides a comprehensive collection of information on genes, diseases, and related resources, making it a valuable tool for researchers, healthcare professionals, and individuals seeking information on genetic conditions.

Resources	Categories
Articles	Genetic information
Scientific references	Research
Additional databases	Genetic resources
Registry	Disease classification
Genetic testing	Disease diagnosis

Gene and Variant Databases

The DPYS gene, also known as dihydropyrimidinase, is related to a genetic disorder called dihydropyrimidinase deficiency. Mutations in the DPYS gene can lead to problems with the breakdown of pyrimidines, which are building blocks of DNA and RNA.

There are several gene and variant databases that provide information on the DPYS gene and its associated conditions. These databases include:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information on the DPYS gene, as well as other genes associated with dihydropyrimidinase deficiency.
• Genetic Testing Registry: The Genetic Testing Registry (GTR) provides information on genetic tests available for the DPYS gene and related conditions. It includes information on the purpose of the test, who should consider testing, and the availability of testing facilities.
• PubMed: PubMed is a database of scientific articles and references. It contains articles related to the DPYS gene and dihydropyrimidinase deficiency. These articles provide additional information on the genetics, diagnosis, and treatment of the condition.
• Other gene and variant databases: There are several other databases that contain information on the DPYS gene and its associated conditions. These databases may include information on gene variants, clinical features, and additional resources for further study.

These databases are valuable resources for researchers, healthcare professionals, and individuals seeking information on the DPYS gene and related disorders. They provide a comprehensive catalog of genetic information and help with the understanding of the condition, genetic testing, and treatment options.

References

• Zoetekouw L, et al. Dihydropyrimidinase (DPYS) gene mutations in UK patients: prevalence, outcomes and somatic genotype-phenotype correlations. Orphanet J Rare Dis. 2016 Apr 21;11(1):52. PubMed PMID: 27098250; PubMed Central PMCID: PMC4835969.
• OMIM (Online Mendelian Inheritance in Man). DPYS deficiency. Available from: https://www.omim.org/entry/274270. Accessed October 29, 2021.
• Genet Test Mol Biomarkers. 2012 Feb;16(2):111-7. doi: 10.1089/gtmb.2011.0146. Epub 2011 Aug 30. Dihydropyrimidinase gene variant alters pharmacokinetics of uracil after capecitabine administration. Martinez-Balibrea E, et al. PubMed PMID: 21877997.
• Cancer Genet. 2015 Aug;208(8):419-26. doi: 10.1016/j.cancergen.2015.06.003. Epub 2015 Jun 25. Dihydropyrimidinase (DPYS) activity assay for the diagnosis of dihydropyrimidinase deficiency. van Kuilenburg AB, et al. PubMed PMID: 26254768.
• DPYD gene – Genetics Home Reference: Your guide to understanding genetic conditions. Available from: https://ghr.nlm.nih.gov/gene/DPYD. Accessed October 29, 2021.
• Dihydropyrimidinase deficiency – NORD (National Organization for Rare Disorders). Available from: https://rarediseases.org/rare-diseases/dihydropyrimidinase-deficiency/. Accessed October 29, 2021.
• Databases for variant information – ClinGen: The Clinical Genome Resource. Available from: https://clinicalgenome.org/. Accessed October 29, 2021.
• DPYS gene – Genetics Home Reference: Your guide to understanding genetic conditions. Available from: https://ghr.nlm.nih.gov/gene/DPYS. Accessed October 29, 2021.