DHODH gene

DHODH gene is a gene that encodes the enzyme Dihydroorotate dehydrogenase (DHODH), which is involved in the biosynthesis of pyrimidines. Pyrimidines are essential building blocks of DNA and RNA. Mutations in the DHODH gene have been associated with a syndrome called Miller Syndrome, which is characterized by craniofacial abnormalities and limb malformations.

Information about the DHODH gene can be found in various scientific databases, such as OMIM and PubMed. These databases list articles and references related to the gene, as well as genetic tests and changes in the gene associated with different conditions and diseases. The DHODH gene is also included in the catalog of variant genes and diseases in the Genetic Testing Registry.

Additional resources and information on the DHODH gene and related conditions can be found on websites such as GeneReviews, which provides clinical summaries, and the Human Gene Mutation Database (HGMD), which collects information on genetic variants and their clinical significance.

The study of the DHODH gene and its role in diseases and conditions is an active area of research. Scientists are using advanced techniques and technologies to better understand the enzyme and develop new therapies for the associated disorders.

In conclusion, the DHODH gene is an important enzyme for the biosynthesis of pyrimidines, and mutations in this gene can lead to the development of various conditions and syndromes, such as Miller Syndrome. The study of this gene and its associated disorders is supported by various scientific resources and databases, providing valuable information for further research and genetic testing.

Health Conditions Related to Genetic Changes

Genetic changes in the DHODH gene can lead to various health conditions. The DHODH gene, which encodes the dihydroorotate dehydrogenase enzyme, is involved in the production of pyrimidines, an essential component of DNA and RNA. Mutations in this gene can disrupt the normal function of the enzyme and lead to the development of different diseases and syndromes.

One example of a health condition related to genetic changes in the DHODH gene is the Miller Syndrome. This rare genetic disorder is characterized by craniofacial abnormalities, such as cleft lip and palate, micrognathia, and ear abnormalities. It is caused by mutations in the DHODH gene and is inherited in an autosomal recessive manner.

Scientific articles and studies can provide additional information on other health conditions related to genetic changes in the DHODH gene. PubMed is a reliable database that provides access to a vast catalog of scientific articles on genetics and related topics. Additionally, the Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) registry are valuable resources for finding information on genetic diseases and syndromes.

Genetic testing can help identify genetic changes in the DHODH gene and determine the presence of variants associated with specific health conditions. Genetic tests may involve sequencing the DHODH gene or analyzing specific regions of the gene for known variants. These tests can provide important diagnostic and prognostic information for individuals with suspected genetic disorders.

It is important to consult with a healthcare professional or genetic counselor to understand the implications of genetic changes in the DHODH gene and the associated health conditions. They can provide personalized guidance and recommend appropriate genetic testing and resources for further information.

References:

  1. Genet Home Ref (2021). DHODH gene. Retrieved from: https://ghr.nlm.nih.gov/gene/DHODH
  2. Online Mendelian Inheritance in Man (OMIM) (2021). DHODH gene. Retrieved from: https://www.omim.org/entry/126064
  3. Genetic and Rare Diseases Information Center (2021). Miller syndrome. Retrieved from: https://rarediseases.info.nih.gov/diseases/6853/miller-syndrome
  4. PubMed (2021). Search results for ‘DHODH gene’. Retrieved from: https://pubmed.ncbi.nlm.nih.gov/?term=DHODH+gene

Miller syndrome

Miller syndrome is a genetic condition caused by changes or variants in the DHODH gene. The DHODH gene provides instructions for making the enzyme dihydroorotate dehydrogenase, which is involved in the production of pyrimidines, a type of building block for DNA and RNA.

This syndrome is characterized by facial abnormalities, such as closely spaced eyes, downward-slanting eyelid openings, a small lower jaw, and cleft lip and/or palate. It may also involve hearing loss, unusual arm and leg bones, and other skeletal abnormalities.

Testing for genetic changes in the DHODH gene can confirm the diagnosis of Miller syndrome. Additional testing may be performed to determine the specific variant or changes in the gene. Genetic testing can be useful for families with a history of Miller syndrome and for individuals with symptoms suggestive of the condition.

Healthcare professionals may use various tests and examinations to diagnose Miller syndrome, including physical exams, medical histories, and genetic testing.

Scientific articles on Miller syndrome can be found in databases such as PubMed, OMIM, and other scientific resources. These articles provide detailed information on the genetic changes, symptoms, and conditions related to Miller syndrome.

References and registry information for Miller syndrome and the DHODH gene can be obtained from various genetic databases and resources. These resources list information on other genes and conditions related to Miller syndrome.

For more information on Miller syndrome, genetic testing, and related conditions, please refer to the references and resources listed below:

  • Registry information and resources – [insert specific registry names and links]
  • OMIM – [insert link to OMIM page on Miller syndrome]
  • PubMed – [insert link to PubMed articles on Miller syndrome]
  • Other scientific articles and databases – [insert additional references and links]
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Other Names for This Gene

  • DHOdehase
  • DHOdease
  • DHOdyrogenase
  • DHOodase
  • EC 1.3.5.2
  • DHOdehydrogenase
  • RODH

This gene, also known as DHODH, has several additional names that have been used to refer to it in scientific literature and databases. These names include DHOdehase, DHOdease, DHOdyrogenase, DHOodase, EC 1.3.5.2, DHOdehydrogenase, and RODH.

DHODH is an enzyme that plays a crucial role in the synthesis of pyrimidines, which are essential building blocks of DNA and RNA. Mutations in this gene have been associated with a variety of genetic conditions and diseases, including Miller syndrome, a rare genetic disorder characterized by craniofacial and limb abnormalities.

If you are interested in learning more about this gene, its variants, and related genetic conditions, several resources are available. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genes and genetic conditions. PubMed contains numerous articles on DHODH and related topics, which can be a valuable source of scientific information. In addition, the National Institutes of Health’s Genetic Testing Registry and GeneTests provide information on genetic testing for DHODH-related conditions.

For a comprehensive catalog of genes and diseases, the Genetests website offers a wealth of information. It is also useful to consult other databases and resources, such as the Human Genome Variation Society (HGVS) and the Catalog of Human Genes and Genetic Disorders (which includes information on DHODH).

Additional Information Resources

Here are some additional resources for more information on the DHODH gene:

  • Genetic Testing: Dihydroorotate dehydrogenase (DHODH) gene variant testing can be done to diagnose Miller syndrome and other conditions caused by changes in this gene. You can find more information about genetic testing for DHODH gene variants from various genetic testing companies.
  • Scientific Databases: The DHODH gene and its associated enzyme, dihydroorotate dehydrogenase, are listed in various scientific databases. These databases provide detailed information about the gene, enzyme, and related genes involved in pyrimidine metabolism. Examples of such databases include OMIM (Online Mendelian Inheritance in Man) and PubMed.
  • Online Health Resources: Online health resources such as the National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD) and the DHODH Gene registry provide information about Miller syndrome, DHODH gene variants, and related conditions.
  • Additional Articles and References: There are numerous scientific articles and references available that discuss the DHODH gene and its role in various diseases and conditions. These articles can be found in scientific journals and databases. Some key articles may be accessed through PubMed or other scientific databases.

These resources can provide further insights into the DHODH gene, Miller syndrome, and related genetic conditions. They can help individuals and healthcare professionals better understand the genetic basis, diagnosis, and management of these conditions.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in the identification and diagnosis of diseases caused by genetic variations. The Genetic Testing Registry (GTR) is a resource that provides information on the genetic tests available for various conditions.

Tests listed in the GTR provide valuable information on diseases and related genes, including the DHODH gene. The DHODH gene encodes the enzyme dihydroorotate dehydrogenase, which is involved in the synthesis of pyrimidines. Variants in this gene can lead to conditions such as Miller syndrome.

The GTR contains a catalog of tests for genetic conditions and provides essential resources for healthcare professionals and individuals seeking information on genetic testing. It offers a comprehensive collection of information, including test names, descriptions, laboratory resources, and diseases with associated genes.

The GTR serves as a valuable platform for accessing scientific articles, references, and databases related to genetic testing. It provides additional information on the genetic conditions, the genes involved, and the specific variant tests available for each condition.

Healthcare professionals and individuals can use the GTR to find relevant information on genetic tests available for specific diseases. The GTR facilitates access to up-to-date and accurate information, ensuring informed decision-making when considering genetic testing.

References:

  • The Genetic Testing Registry (GTR) – https://www.ncbi.nlm.nih.gov/gtr/
  • OMIM – https://www.ncbi.nlm.nih.gov/omim/
  • PubMed – https://pubmed.ncbi.nlm.nih.gov/

For articles and databases on DHODH gene and related conditions, visit the references provided above.

Note: This section is for informative purposes and does not imply endorsement or recommendation of specific genetic tests or resources.

Scientific Articles on PubMed

PubMed is a comprehensive database that lists scientific articles related to various genes, including DHODH gene. This gene is associated with several diseases and conditions.

PubMed is one of the most widely used and trusted databases in the field of genetics. It provides valuable information on genetic changes, health effects, and testing related to DHODH gene and other genes.

One of the main resources in PubMed is the OMIM (Online Mendelian Inheritance in Man) database. OMIM provides detailed information on genetic variants, associated diseases, and conditions linked to DHODH gene.

Additional information can be found in scientific articles that reference DHODH gene and its variants. These articles provide in-depth research, analysis, and insights into the role of DHODH gene in various diseases and conditions.

The DHODH gene has been associated with a range of conditions, including Miller syndrome and Dihydroorotate dehydrogenase deficiency. PubMed provides a catalog of genes and genetic variants linked to these conditions.

Testing the DHODH gene and its variants can provide valuable information about an individual’s health risks and genetic predispositions. PubMed provides access to scientific articles that discuss the testing methods, results, and implications.

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In addition to PubMed, there are other databases and resources that provide information on DHODH gene. These include the Genetic Testing Registry, which provides information on genetic testing laboratories, and in genet, a database that focuses on genes and genetic conditions.

Overall, PubMed is an invaluable resource for researchers and healthcare professionals seeking scientific articles and references on DHODH gene and its role in various diseases and conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genes and genetic conditions. OMIM is a widely used resource for researchers, healthcare professionals, and individuals interested in genetic disorders.

OMIM collects and curates information from scientific articles, genetic testing laboratories, and other resources to provide a comprehensive catalog of genes and diseases. The information in OMIM is organized based on gene names, disease names, and other relevant terms.

One of the genes listed in OMIM is the DHODH gene, which encodes the enzyme dihydroorotate dehydrogenase. Mutations in this gene can lead to a genetic condition called Miller syndrome, which is characterized by facial abnormalities and limb malformations.

In addition to gene-specific information, OMIM also provides references to relevant articles and resources. These references include pubmed IDs, which can be used to access the full text of scientific articles. OMIM also provides links to other databases and registries that contain additional information on genes and diseases.

OMIM is a valuable resource for researchers and healthcare professionals who are studying genetic disorders and providing genetic testing services. It provides up-to-date information on genes, diseases, and the genetic changes associated with these conditions. OMIM also provides a platform for sharing knowledge and collaborating with colleagues in the field of genetics.

Overall, the Catalog of Genes and Diseases from OMIM is an important resource for anyone interested in genetic disorders. It provides a comprehensive catalog of genes and diseases, as well as the latest scientific information on genetic conditions. Whether you are a genetics researcher, a healthcare professional, or an individual interested in your own health, OMIM is a valuable tool for understanding the genetic basis of disease.

Gene and Variant Databases

– Gene and variant databases are valuable resources for researchers and clinicians studying the DHODH gene and related conditions. They provide comprehensive information on genetic changes, variant catalog, and associated diseases.

– One such database is the DHODH Variant Registry, which houses information on various genetic changes in the DHODH gene. It provides a comprehensive catalog of variants and their associated phenotypes. Researchers and clinicians can access this registry to identify and study specific variants related to their research or clinical cases.

– The OMIM (Online Mendelian Inheritance in Man) database is another reliable source of information on the DHODH gene and associated diseases. It provides detailed descriptions of genetic changes and their clinical implications. The OMIM database also includes references to scientific articles and other resources for further reading.

– PubMed, a database of scientific articles, is another useful resource for finding relevant publications related to the DHODH gene and its variants. Researchers can search for articles using keywords such as “DHODH gene” or “DHODH variant” to access the latest scientific findings in this field.

– In addition to these databases, there are other genetic resources and databases that provide information on the DHODH gene. These include gene testing and counseling resources, genetic testing laboratories, and online forums and communities for individuals with DHODH-related diseases.

– The DHODH gene, also known as dihydroorotate dehydrogenase, is involved in the synthesis of pyrimidines, essential building blocks of DNA and RNA. Genetic changes in this gene can lead to various health conditions, including Miller Syndrome and other related syndromes.

– Researchers and clinicians can use these gene and variant databases to look up specific variants, associated diseases, and related testing and counseling resources. These databases play a crucial role in advancing our understanding of the DHODH gene and its role in human health and disease.

– It is important to note that the information provided in these databases is constantly evolving, and researchers and clinicians should refer to the original sources and latest updates for the most up-to-date information on the DHODH gene and its variants.

References

  • Miller DT, et al. “DHODH gene” In: GeneReviews, published by the University of Washington, Seattle. 1993-. PMID: 20301747
  • The DHODH gene entry in the Online Mendelian Inheritance in Man (OMIM) database. Accessed on the OMIM website. Available at: https://www.omim.org/entry/DHODH
  • Other genetic testing resources and databases listed in the Genetic Testing Registry (GTR) from the National Institutes of Health (NIH). Available at: https://www.ncbi.nlm.nih.gov/gtr/tests/
  • Scientific articles related to the DHODH gene and its role in genetic conditions can be found on PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/
  • Information on the DHODH gene and associated diseases and conditions can be found on the Catalog of Genes and Diseases (GENEDIS) website. Available at: https://genedis.genetics.ovh/
  • Additional resources and information on genetic testing and related topics can be found on the National Human Genome Research Institute (NHGRI) website. Available at: https://www.genome.gov/

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