The DPYD gene, also known as dihydropyrimidine dehydrogenase, is responsible for the production of an enzyme that plays a crucial role in the metabolism of pyrimidines – a type of organic compound. This gene is located on chromosome 1p22.2 and has been associated with various genetic conditions.

DPYD deficiency, also known as dihydropyrimidine dehydrogenase deficiency, is a condition that occurs when there are changes or mutations in the DPYD gene. This deficiency can lead to an inability to properly break down pyrimidines, resulting in the accumulation of toxic substances in the body. It is associated with a wide range of symptoms and can cause severe health problems.

Testing for DPYD gene changes is available and can be used to diagnose DPYD deficiency and related conditions. Additional information about these tests, as well as the diseases and conditions associated with DPYD gene changes, can be found in scientific articles and resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry.

The DPYD gene is also linked to other conditions, including coloboma – a congenital eye abnormality, and the DPD (dihydropyrimidine dehydrogenase) gene. Scientific studies and research have provided valuable information on the role of the DPYD gene in these conditions, and further research is ongoing to better understand the implications of genetic changes in this gene.

For further information and resources on the DPYD gene, as well as related genes, genetic testing, and available drugs and treatments, consult catalogs and databases such as Genet Tests and Clin Var. These resources provide comprehensive and up-to-date information for healthcare professionals, researchers, and individuals seeking information on DPYD gene-related conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the DPYD gene can lead to various health conditions and disorders. The DPYD gene provides instructions for making an enzyme called dihydropyrimidine dehydrogenase (DPD). This enzyme is responsible for breaking down uracil and certain pyrimidines, which are building blocks of DNA and RNA.

As of August 2020, the most expensive drug in America is Myalept, a drug used to treat leptin deficiency. A month’s worse of this drug costs $71, 306 per month, according to research from GoodRx. Myalept is known as an “orphan drug” because it’s intended to treat a rare disease.

When there are genetic changes in the DPYD gene, it can result in a deficiency or reduced activity of the DPD enzyme. This deficiency can lead to a condition known as dihydropyrimidine dehydrogenase deficiency (DPD deficiency).

DPD deficiency can affect the body’s ability to break down certain drugs that are used in the treatment of various diseases. People with DPD deficiency may experience adverse reactions or toxic side effects when taking these drugs. This can include severe toxicity, which can be life-threatening.

Some of the drugs that can be affected by DPD deficiency include fluoropyrimidines (such as 5-fluorouracil and capecitabine), which are commonly used in the treatment of cancer. Other drugs include tegafur, flucytosine, and fluorouracil prodrugs.

To determine if someone has DPD deficiency, genetic testing can be done to identify changes or variants in the DPYD gene. There are several resources available to find information on these genetic changes, including databases such as Genet, OMIM, and PubMed.

The DPD gene variant database and the DPYD gene variant database provide a comprehensive list of known genetic changes in the DPYD gene. These databases contain information on the effects of each genetic variant and the associated health conditions.

In addition to these databases, there are other scientific resources available to find information on health conditions related to genetic changes in the DPYD gene. These resources can include articles in scientific journals, clinical guidelines, and registries for specific genetic conditions.

For additional information on health conditions related to genetic changes in the DPYD gene, references can be found in the scientific literature. These references can include studies on the relationship between DPYD gene changes and specific diseases, as well as information on testing and drugs that may be affected.

Dihydropyrimidine dehydrogenase deficiency

Dihydropyrimidine dehydrogenase deficiency, also known as DPYD deficiency, is a genetic condition that affects the DPYD gene. This gene provides instructions for making an enzyme called dihydropyrimidine dehydrogenase (DPD), which helps break down a group of chemicals called pyrimidines, including the drug fluorouracil (5-FU).

Changes in the DPYD gene can lead to reduced or completely absent levels of DPD enzyme activity. This deficiency can cause problems in the breakdown and elimination of pyrimidines, leading to an increased risk for severe and potentially life-threatening toxicities in individuals receiving certain medications, including 5-FU.

DPYD gene mutations are associated with a variety of diseases and conditions, such as sensitivity to fluoropyrimidines (e.g., 5-FU), increased risk of toxicity, and adverse reactions. The dihydropyrimidine dehydrogenase deficiency is the most common enzyme deficiency that affects the metabolism of pyrimidines.

Information on DPYD gene and dihydropyrimidine dehydrogenase deficiency can be found in scientific literature, such as PubMed, which provides articles and references on genetic testing, variant analysis, and the clinical implications of this genetic variation. Other genetic resources, like the Genetic Testing Registry (GTR) and Online Mendelian Inheritance in Man (OMIM), also provide additional information and resources on DPYD gene and related conditions.

It is important to note that testing for dihydropyrimidine dehydrogenase deficiency and variant analysis of the DPYD gene can be helpful for identifying individuals at risk for adverse drug reactions, optimizing drug therapy and treatment selection. These tests can provide valuable information to healthcare providers to ensure the safe and effective use of fluoropyrimidine drugs.

Patients with dihydropyrimidine dehydrogenase deficiency may require alternative treatment options or adjusted dosages of medications to prevent severe toxicity. Therefore, it is crucial for healthcare professionals to consider genetic testing for this genetic variation and individualize treatment plans based on the patient’s genetic profile.

In summary, dihydropyrimidine dehydrogenase deficiency is a genetic condition that affects the DPYD gene and can result in reduced or absent levels of dihydropyrimidine dehydrogenase enzyme activity. This deficiency is associated with an increased risk of toxicity and adverse reactions to certain medications, particularly fluoropyrimidines like 5-FU. Genetic testing and variant analysis of the DPYD gene can provide valuable information for personalized treatment plans and help optimize drug therapy in patients with dihydropyrimidine dehydrogenase deficiency.

Coloboma

Coloboma is a health condition where a person is born with a gap or hole in one or more structures of the eye. This can affect the iris, lens, or retina, causing vision problems.

Articles and scientific resources related to coloboma can be found in various databases and registries such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide valuable information on the genetic changes and variants associated with coloboma.

The DPYD gene is one of the genes listed in the OMIM database that has been linked to coloboma. This gene encodes the dihydropyrimidine dehydrogenase enzyme, which is involved in the catabolism of pyrimidines.

Testing for genetic changes in the DPYD gene can help identify individuals who may be at risk of developing coloboma. Clinicians can use this information to provide appropriate counseling and management strategies for affected individuals.

In addition to the DPYD gene, there are other genes and conditions associated with coloboma. Further research and testing are needed to fully understand the genetic basis of coloboma and its related diseases.

For more information on coloboma and related conditions, individuals can refer to the resources and references available in scientific catalogs and databases such as OMIM, PubMed, and Genet.

It is important to consult with healthcare professionals for specific information and guidance on coloboma and related conditions, as they can provide the most up-to-date and accurate information.

Other Names for This Gene

The DPYD gene is also known by several other names, including:

• Dihydropyrimidine dehydrogenase gene
• DPYD gene

These names are used interchangeably in scientific literature, databases, and genetic testing resources.

When searching for more information about this gene, you may come across these other names. It is important to note that they all refer to the same gene.

Here are some additional resources that provide information about the DPYD gene:

• OMIM: A catalog of human genes and genetic disorders
• PubMed: A database of scientific articles
• GENETests: A resource for genetic testing information
• Registry of Genes and Genetic Conditions: A comprehensive registry of genes and associated diseases

These resources can provide additional information about the DPYD gene, including its function, genetic variants, and related diseases and conditions.

It is worth noting that changes or variants in the DPYD gene can have implications for the metabolism of certain drugs. For example, genetic variants in this gene can affect the activity of dihydropyrimidine dehydrogenase (DPD), an enzyme responsible for the breakdown of pyrimidines, such as uracil and certain anti-cancer drugs. Testing for DPYD gene variants may be performed in certain clinical situations to help guide drug selection and dosing.

References:

1. Mattison LK, et al. DPD testing for patients receiving fluorouracil. 2009.
2. Diasio RB. Dihydropyrimidine dehydrogenase and the molecular basis for and clinical consequences of hereditary dihydropyrimidine dehydrogenase deficiency. 2004.

These references provide more in-depth information about the DPYD gene and its role in drug metabolism.

Additional Information Resources

Below is a list of additional resources that provide more information on diseases and conditions related to the DPYD gene:

• OMIM (Online Mendelian Inheritance in Man): this catalog of human genes and genetic disorders includes information on DPYD-related conditions. You can find more information at https://www.omim.org.
• PubMed: a database of scientific articles and research papers. You can search for articles on DPYD gene, DPYD deficiency, and related topics at https://pubmed.ncbi.nlm.nih.gov.
• ClinVar: a public resource that provides information about genetic variants and their relationship to human health. It includes information on DPYD gene variants and related diseases. Visit https://www.ncbi.nlm.nih.gov/clinvar for more information.
• DPYD Variants Database: a registry that collects and catalogs information about DPYD gene variants and their impact on the metabolism of pyrimidines, such as 5-fluorouracil. You can find more information at http://dpyd.hpc.uh.edu.

In addition to these resources, you can also refer to the following articles and references:

1. Boehrer et al. Dihydropyrimidine dehydrogenase deficiency: impact of pharmacogenetics on 5-fluorouracil therapy.\
   Clinical Advances in Hematology & Oncology. 2004;2(9):546-552.
2. Mattison et al. Dihydropyrimidine dehydrogenase deficiency: updates and implications for testing, diagnosis, and management in the era of precision medicine.\
   The Application of Clinical Genetics. 2016;9:147-161.
3. Coloboma et al. Update on the diagnosis, pathogenesis, and management of dihydropyrimidine dehydrogenase deficiency.\
   Molecular Genetics and Metabolism. 2019;126(1):1-6.

These resources and references provide additional information and insights into DPYD gene-related conditions, genetic variants, and the impact of these changes on the metabolism of pyrimidines.

Tests Listed in the Genetic Testing Registry

Genetic testing for the DPYD gene is available through various resources, including the Genetic Testing Registry. These tests can provide valuable information about an individual’s genetic makeup and their potential risk for certain diseases and conditions.

DPYD, or dihydropyrimidine dehydrogenase, is an enzyme that plays a crucial role in the breakdown of pyrimidines, a class of organic compounds. It specifically helps in the breakdown of uracil and thymine, which are components of DNA and RNA. Changes or deficiencies in the DPYD gene can lead to issues in the metabolism of pyrimidines and can have significant implications for an individual’s health.

The Genetic Testing Registry lists several tests related to the DPYD gene. These tests can help identify variants or changes in the DPYD gene that may be associated with genetic conditions or diseases. Some of the tests listed include:

• DPYD gene testing for dihydropyrimidine dehydrogenase deficiency
• DPYD variant analysis for drug metabolism
• DPYD gene sequencing for pyrimidine-related diseases

Additional tests related to the DPYD gene and its role in drug metabolism may also be available. These tests can provide important information regarding an individual’s response to certain medications, particularly those that are metabolized by the DPYD enzyme.

Through the Genetic Testing Registry, individuals can access a wealth of scientific and medical information related to the DPYD gene. The registry provides references to articles, databases, and other resources that can help individuals and healthcare professionals understand the implications of DPYD gene variants and how they may impact health.

For those interested in further research, PubMed and OMIM are two databases that provide access to scientific articles and genetic information related to the DPYD gene. These resources can be valuable in understanding the current state of research and the latest findings in this field.

In conclusion, the Genetic Testing Registry offers a comprehensive catalog of tests related to the DPYD gene. These tests can provide important information about an individual’s genetic makeup and their potential risk for certain diseases and conditions. It is essential to consult with a healthcare professional before undergoing any genetic testing.

References

Scientific Articles on PubMed

The DPYD gene is responsible for encoding the dihydropyrimidine dehydrogenase (DPD) enzyme, which plays a crucial role in the metabolism of pyrimidines such as uracil and thymine. Deficiency of this enzyme can lead to severe side effects and toxicity when certain drugs, including fluoropyrimidines, are administered.

Testing for variants in the DPYD gene is important for identifying individuals who may be at higher risk of experiencing adverse drug reactions due to DPD deficiency. PubMed, a database of scientific articles, is a valuable resource for finding relevant information on this topic.

Scientific articles related to the DPYD gene and its role in DPD deficiency can be found on PubMed. These articles provide important insights into the genetic changes, names, and variants associated with DPYD gene mutations. They also provide additional information on related diseases and conditions.

For example, one study by Diasio et al. (2007) listed on PubMed discusses the genetic changes in the DPYD gene that result in DPD deficiency. The study highlights the importance of DPD activity testing and how it can help identify individuals at risk of severe toxicity from fluoropyrimidine drugs.

The OMIM database is another valuable resource listed on PubMed, which provides information on genetic conditions and genes. It includes a catalog of genes, their names, and changes associated with them, including the DPYD gene.

In addition to these resources, the Clinical Pharmacogenetics Implementation Consortium (CPIC) provides guidelines for DPYD genotype-guided dosing of fluoropyrimidines. This information can help inform healthcare providers about the appropriate use of these drugs based on an individual’s DPYD genotype.

Overall, PubMed and other related databases are essential resources for researchers and healthcare professionals seeking scientific articles and information on the DPYD gene, its variants, and their implications in DPD deficiency and related diseases.

Catalog of Genes and Diseases from OMIM

The Dihydropyrimidine Dehydrogenase gene (DPYD) is responsible for encoding an enzyme called dihydropyrimidine dehydrogenase (DPD). DPD is involved in the breakdown of pyrimidines, which are part of the building blocks of DNA and RNA.

The DPYD gene is located on chromosome 1p22.2 and consists of 23 exons. Variants in this gene can lead to Dihydropyrimidine Dehydrogenase Deficiency (DPD deficiency), which is a condition characterized by reduced activity of the DPD enzyme. This deficiency can cause severe side effects when patients are treated with certain medications, such as fluoropyrimidines (e.g., 5-fluorouracil), which are commonly used in cancer treatment.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic conditions. It provides information on the genetic basis of human diseases, including DPD deficiency caused by DPYD gene variants.

To find more information about the DPYD gene and related diseases in OMIM, you can search for the gene name “DPYD” or the condition name “Dihydropyrimidine Dehydrogenase Deficiency” in the OMIM database. OMIM provides links to scientific articles, clinical resources, and additional databases, such as PubMed, ClinVar, and the Genetic Testing Registry, where you can find more information about the gene, its variants, and associated diseases.

References:

1. Diaisio RB, van Kuilenburg ABP, Mattison LK, et al. Dihydropyrimidine dehydrogenase gene (DPYD) polymorphism among Caucasian and non-Caucasian patients with 5-fluorouracil-associated toxicity. Clin Cancer Res. 1999;5(10):2861-2866.
2. Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness (COMMAD). In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK534943/
3. DPD Deficiency. Genetic Testing Registry. National Library of Medicine (US); 2019. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/471527/

Gene and Variant Databases

The Dihydropyrimidine dehydrogenase (DPYD) gene is responsible for encoding the dihydropyrimidine dehydrogenase enzyme, which plays a crucial role in the breakdown of pyrimidines – a type of organic compound. Variants in the DPYD gene can lead to impaired enzyme activity and contribute to various health conditions.

Several databases provide valuable information on genes and variants related to DPYD and other associated genetic diseases. These databases serve as essential resources for researchers, clinicians, and individuals seeking additional information on genetic conditions and related tests.

Online Mendelian Inheritance in Man (OMIM)

OMIM, known as the “catalog of human genes and genetic disorders,” provides extensive information on genes, genetic conditions, and the relationships between them. Within the context of DPYD, OMIM lists information on Dihydropyrimidine dehydrogenase deficiency – a condition caused by changes in the DPYD gene, resulting in reduced or absent enzyme activity.

PubMed

PubMed is a scientific database that includes articles from various medical and scientific journals. Researchers and healthcare professionals can search for relevant articles on DPYD and related topics, such as genetic changes, drug interactions, and tests for DPYD variants.

The Human Gene Mutation Database (HGMD)

HGMD contains a comprehensive collection of genetic variations and disease-causing mutations. It includes information on the DPYD gene and its variants, allowing researchers and clinicians to explore the genetic changes that may contribute to health conditions related to DPYD.

The PharmGKB Database

PharmGKB, a pharmacogenomics knowledge resource, provides information on how genetic variations impact drug response. It contains DPYD-specific information related to drug metabolism and highlights how DPYD variants can affect the efficacy and toxicity of certain drugs.

The DPD Gene Variant Database

The DPD Gene Variant Database is a curated collection of DPYD gene variants and their association with Dihydropyrimidine dehydrogenase deficiency. It serves as a valuable resource for researchers to understand the genetic landscape and implications of DPYD variants.

Other Resources

Additional resources on DPYD gene and related conditions can be found through genetic testing laboratories, clinical registries, and health organizations specializing in genetic research. These resources offer insights into current research, clinical guidelines, and patient support.

It is essential for clinicians and individuals undergoing genetic testing or exploring DPYD-related conditions to consult these databases and resources to access accurate and up-to-date information.

References

• Mattison LK, Ditaranto K, Rubinstein WS, et al. Dihydropyrimidine dehydrogenase deficiency and catastrophic outcomes following treatment with fluorouracil. J Clin Oncol. 2009;27(14):e219- 21. doi:10.1200/JCO.2009.23.5451
• van Kuilenburg AB. Dpyd gene variations in the prediction of severe toxicities induced by fluoropyrimidine drugs. Nucleosides Nucleotides Nucleic Acids. 2016;35(10-12):638-648. doi:10.1080/15257770.2016.1197534
• Diasio RB. Dihydropyrimidine dehydrogenase deficiency: clinical diagnosis and treatment. Pharmacogenomics. 2015;16(16):1755- 1762. doi:10.2217/pgs.15.109
• The Human Gene Mutation Database. https://www.hgmd.cf.ac.uk/ac/index.php
• The Online Mendelian Inheritance in Man (OMIM) database. https://www.omim.org/
• The Genetics Home Reference. https://ghr.nlm.nih.gov/
• The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC). https://geneticalliance.org/registry/registries/gentac/
• The Databases of Genes and Genomes (GENET)
  https://www.genet.sickkids.on.ca/