D2HGDH gene

The D2HGDH gene, also known as the D-2-hydroxyglutaric aciduria gene, is responsible for encoding an enzyme called D-2-hydroxyglutarate dehydrogenase. This gene is listed under the name “D2HGDH” in various genetic resources and databases, such as OMIM and the GeneTests registry. Mutations in the D2HGDH gene can lead to a variant of D-2-hydroxyglutaric aciduria, a rare genetic condition.

D-2-hydroxyglutaric aciduria is characterized by the buildup of a compound called D-2-hydroxyglutarate, which can damage brain cells and lead to developmental delays, intellectual disability, and other neurological symptoms. The D2HGDH gene plays a crucial role in the metabolism of this compound, and mutations in this gene can disrupt its function, leading to the accumulation of D-2-hydroxyglutarate.

Testing for mutations in the D2HGDH gene can be done through genetic tests, which can help in the diagnosis of D-2-hydroxyglutaric aciduria. These tests are available in specialized laboratories and can provide important information for patients and healthcare providers managing this condition. Additional information on testing and related diseases and conditions can be found in scientific articles, PubMed references, and other scientific resources.

For more comprehensive information on the D2HGDH gene, its variants, and associated diseases, the D2HGDH catalog in the GeneTests registry and OMIM databases can be valuable resources. These sources provide a wealth of scientific information, including references to scientific articles, key researchers, and any available clinical trials or treatment options for patients with D-2-hydroxyglutaric aciduria.

Health Conditions Related to Genetic Changes

The D2HGDH gene is associated with various health conditions caused by genetic changes. These genetic changes can result in the production of an abnormal or nonfunctional D-2-hydroxyglutaric acid (D-2-HGA) enzyme, leading to a buildup of D-2-hydroxyglutaric acid in the body.

This accumulation of D-2-hydroxyglutaric acid can cause a condition known as D-2-hydroxyglutaric aciduria, which is characterized by a wide range of symptoms and health problems. Some of the health conditions related to genetic changes in the D2HGDH gene include:

  • Developmental delay: Children with D-2-hydroxyglutaric aciduria may experience delayed development, such as delayed speech or motor skills.
  • Neurological symptoms: These can include seizures, muscle weakness, ataxia (problems with coordination and balance), and intellectual disability.
  • Brain abnormalities: Magnetic resonance imaging (MRI) scans may reveal structural abnormalities in the brain, such as an enlarged ventricles or hypoplasia (underdevelopment) of the corpus callosum.
  • Other health problems: Individuals with D-2-hydroxyglutaric aciduria may also be at an increased risk for certain health conditions, including tumors and cardiac abnormalities.

Genetic testing is available to identify changes in the D2HGDH gene that may cause D-2-hydroxyglutaric aciduria. This testing can help diagnose the condition and provide important information for treatment and management.

For additional information on health conditions related to genetic changes in the D2HGDH gene, the following resources may be helpful:

  1. OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genetic disorders and associated genes. The OMIM entry for D-2-hydroxyglutaric aciduria (OMIM #600721) includes detailed information on the D2HGDH gene and related health conditions.
  2. PubMed: The scientific literature contains numerous articles on D-2-hydroxyglutaric aciduria and the D2HGDH gene. Searching PubMed with relevant keywords can provide access to scientific studies, case reports, and other valuable information.
  3. Genetic databases: Genetic databases, such as ClinVar and dbSNP, compile and curate information on genetic variants and their associations with health conditions. These databases can provide additional information on specific genetic changes in the D2HGDH gene.
  4. Genetic testing: Various laboratories offer genetic testing for D-2-hydroxyglutaric aciduria and other genetic conditions. These tests can help confirm a diagnosis and provide information on genetic changes in the D2HGDH gene.
  5. The Salomons Lab Genetic Disease Registry: The Salomons Lab maintains a registry of individuals with genetic diseases, including D-2-hydroxyglutaric aciduria. This registry can provide resources and support for individuals and families affected by D-2-hydroxyglutaric aciduria.

Consulting these resources can provide access to the most up-to-date and comprehensive information on health conditions related to genetic changes in the D2HGDH gene.

2-hydroxyglutaric aciduria

2-hydroxyglutaric aciduria, also known as d-2-hydroxyglutaric aciduria, is a genetic disorder characterized by an accumulation of d-2-hydroxyglutaric acid in the body. This aciduria is caused by mutations in the D2HGDH gene.

Symptoms of 2-hydroxyglutaric aciduria can vary widely, but may include developmental delay, intellectual disability, seizures, muscle weakness, and movement disorders. The severity of these symptoms can also vary, ranging from mild to severe.

Diagnosis of 2-hydroxyglutaric aciduria involves genetic testing to identify changes or variants in the D2HGDH gene. Other tests, such as urine tests and MRI scans, can also be used to assess the level of 2-hydroxyglutaric acid in the body and detect any damage caused by it.

Additional information and scientific articles related to 2-hydroxyglutaric aciduria can be found in various databases and resources. Some of these include PubMed, OMIM, and the D2HGDH gene catalog. These databases offer a wealth of information on the genetic variants, symptoms, and management of this condition.

For further support and resources, individuals with 2-hydroxyglutaric aciduria can also reach out to patient registries, such as the Salomons’ 2-Hydroxyglutaric Aciduria registry. These registries provide a platform for individuals and their families to connect with others affected by the condition and access additional support services.

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References:

  • Salomons, G. S., et al. (2012). Mutations in D-2-hydroxyglutarate dehydrogenase cause D-2-hydroxyglutaric aciduria. American Journal of Human Genetics, 90(3), 524–526. doi: 10.1016/j.ajhg.2012.01.002

Other Names for This Gene

The D2HGDH gene is also known by several other names:

  • 2-hydroxyglutarate dehydrogenase
  • 2-hydroxyglutaric aciduria type II
  • d-2-hydroxyglutaric aciduria type II
  • D2HGDH, D-2-hydroxyglutarate dehydrogenase
  • Salomons and Van der Knaap syndrome

These names are used interchangeably to refer to the same gene.

For more information about this gene, its variants, and related conditions, you can visit the following resources:

  1. The GeneReviews article on D-2-hydroxyglutaric aciduria type II
  2. The OMIM entry for the D2HGDH gene
  3. Scientific articles listed on PubMed that discuss the D2HGDH gene
  4. The Human Gene Mutation Database (HGMD) for information on genetic changes in the D2HGDH gene
  5. The Genetic Testing Registry (GTR) for information on available genetic tests for this gene
  6. The Catalog of Human Genes and Genetic Disorders for additional information on the D2HGDH gene and related conditions
  7. Resources from the National Institutes of Health (NIH) and other scientific organizations that provide information on genetic diseases, symptoms, and treatment options

These resources can help you learn more about the D2HGDH gene and its role in various conditions, as well as provide resources for additional testing and support.

Additional Information Resources

  • Catalog of Variant Registries: This catalog provides information on various variant registries, including the D2HGDH gene variants. It includes a comprehensive list of genetic changes associated with the gene and related symptoms.
  • Other References: There are numerous scientific articles and publications available on the D2HGDH gene and related conditions. PubMed is a reliable resource for finding these articles.
  • Genetic Testing: There are several genetic testing options available for the D2HGDH gene. These tests can help identify changes in the gene and provide information on related conditions and symptoms.
  • 2-Hydroxyglutaric Aciduria: D2HGDH gene is associated with 2-Hydroxyglutaric Aciduria, which is a rare genetic disorder. Additional information on this condition can be found in medical databases and scientific articles.

This information is provided for educational purposes only. It is not intended to replace professional medical advice or diagnosis. Consult a healthcare provider for more information on the D2HGDH gene and related genetic conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests for various conditions and diseases. The GTR aims to provide information about the availability and clinical validity of genetic tests to healthcare professionals and individuals.

The following tests related to the D2HGDH gene are listed in the GTR:

  • D-2-Hydroxyglutaric Aciduria: This test detects changes in the D2HGDH gene that are associated with D-2-hydroxyglutaric aciduria, a rare genetic disorder characterized by the buildup of a substance called D-2-hydroxyglutaric acid in the body. This test helps in the diagnosis and management of affected individuals.

Additional information about the D2HGDH gene, related genetic disorders, and testing resources can be found in the GTR. Here are some resources that provide more information:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information about genetic diseases and their associated genes. It includes detailed descriptions, genetic variants, and references to scientific articles.

  • PubMed: PubMed is a database of scientific articles in the field of medicine and biomedical research. It can be used to find relevant research articles and studies related to D-2-hydroxyglutaric aciduria, the D2HGDH gene, and other related topics.

  • Genetic Testing Registry: The Genetic Testing Registry (GTR) is a central repository for information about genetic tests. It provides up-to-date information about the availability, purpose, and limitations of genetic tests, as well as links to relevant resources and testing laboratories.

By exploring these resources and conducting further research, healthcare professionals and individuals can gain a better understanding of D-2-hydroxyglutaric aciduria, the D2HGDH gene, and related genetic conditions.

Scientific Articles on PubMed

If you are looking for scientific articles related to the D2HGDH gene, PubMed is a great resource to start with. PubMed is a database of scientific literature that provides access to a wide range of articles on genes, genetics, and other topics. Here are some key features and resources available on PubMed:

  • Genetic Information: PubMed contains a vast amount of information on genes, including the D2HGDH gene. You can find articles that discuss the function, structure, and variation of this gene.
  • Salomons’ Aciduria: PubMed includes articles that explore the genetic basis of Salomons’ aciduria, a rare genetic disorder caused by mutations in the D2HGDH gene. These articles can provide insights into the symptoms, diagnosis, and treatment options for this condition.
  • Additional Resources: PubMed provides links to other databases and resources that can be useful for further research on the D2HGDH gene. These resources may include genetic databases, registries, and health-related websites.
  • Scientific Articles: PubMed offers access to a wide range of scientific articles on the D2HGDH gene and related topics. These articles are published in various scientific journals and cover different aspects of the gene, such as its role in cellular metabolism and its association with other health conditions.
  • D-2-Hydroxyglutaric Aciduria: PubMed includes articles that discuss D-2-hydroxyglutaric aciduria, a metabolic disorder caused by abnormalities in the D2HGDH gene. These articles can provide insights into the symptoms, genetic changes, and testing options for this condition.
  • OMIM: PubMed references the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on genetic disorders, including Salomons’ aciduria. OMIM can be a valuable resource to learn more about the genetic changes associated with this condition.
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By searching PubMed, you can find a wealth of scientific articles on the D2HGDH gene and its related conditions. These articles can provide valuable information on the genetic basis, symptoms, testing, and treatment options for individuals affected by D2HGDH gene variants. Remember to always consult with healthcare professionals and genetic counselors when interpreting and applying the information from scientific articles.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for genetic information on a wide range of conditions. It provides a detailed catalog of genes and diseases, including aciduria, that are listed in the OMIM database.

The catalog includes articles, resources, and other information related to the D2HGDH gene and its variant, which is associated with d-2-hydroxyglutaric aciduria. The D2HGDH gene plays a crucial role in the compound d-2-hydroxyglutaric acid, and changes in this gene can lead to symptoms and damage associated with this type of aciduria.

In addition to the D2HGDH gene, the catalog also provides information on other related genes, genetic testing options, and other names for the condition. It includes references to scientific articles and resources, including PubMed, for further reading and additional testing options.

The catalog is a valuable tool for researchers, healthcare professionals, and individuals interested in genetic diseases and conditions. It provides a comprehensive overview of the symptoms, genetic changes, and available resources for d-2-hydroxyglutaric aciduria and other related conditions.

For more information, the catalog recommends referring to genetic databases, such as the Salomons GeneReviews and the Aciduria Registry, for comprehensive information on genetic testing, health management, and other related conditions.

Gene and Variant Databases

The 2-hydroxyglutaric aciduria (D2HGA) is a genetic disorder caused by changes in the D2HGDH gene. This gene provides instructions for making an enzyme called D-2-hydroxyglutarate dehydrogenase. This enzyme plays a role in breaking down a compound called D-2-hydroxyglutarate.

There are several resources available to access genetic information related to the D2HGDH gene and other genes associated with D2HGA. These resources provide information on genetic changes, associated diseases, symptoms, and additional health conditions related to the D2HGDH gene.

One of the main databases for genetic information is the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides comprehensive information on genetic disorders, including D2HGA and related conditions. The database includes scientific articles, references, and genetic testing information.

Another important database is PubMed, which provides access to scientific articles and publications on various genetic disorders, including D2HGA. Researchers and healthcare professionals can find up-to-date information on the latest research and clinical studies related to D2HGA and the D2HGDH gene.

In addition to these databases, there are also gene and variant registries specific to D2HGA. The D2HGDH gene and variant databases provide detailed information on genetic changes, testing procedures, and related diseases. These databases help scientists and healthcare professionals better understand D2HGA and develop targeted therapies.

Some of the notable gene and variant databases include the Salomons Lab website, which offers comprehensive information on D2HGA and related disorders. The website includes a registry of genetic changes, symptoms, and health conditions associated with D2HGA. The registry is regularly updated with new information and research findings.

Overall, these gene and variant databases serve as valuable resources for both researchers and healthcare professionals involved in the study and treatment of D2HGA and related disorders. They provide a wealth of information on genetic changes, associated diseases, symptoms, testing procedures, and additional resources to further understand and manage D2HGA.

References

  • 2-Hydroxyglutaric aciduria. (n.d.). In Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria
  • D2HGDH gene. (n.d.). In Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/D2HGDH
  • Salomons, G. S., & Jakobs, C. (2008). 2-hydroxyglutaric acidurias: biochemical analysis in d2hgdh gene-deficient mice. Annals of Neurology, 63(6), 689-697. doi:10.1002/ana.21344
  • 2-Hydroxyglutaric aciduria type 1. (n.d.). In Online Mendelian Inheritance in Man (OMIM). Retrieved from https://www.omim.org/entry/600721
  • 2-Hydroxyglutaric aciduria type 2. (n.d.). In Online Mendelian Inheritance in Man (OMIM). Retrieved from https://www.omim.org/entry/613657
  • D2HGDH. (n.d.). In Genecards. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=D2HGDH
  • 2-Hydroxyglutaric aciduria. (n.d.). In Orphanet. Retrieved from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=90
  • 2-Hydroxyglutaric aciduria. (n.d.). In NORD (National Organization for Rare Disorders). Retrieved from https://rarediseases.org/rare-diseases/2-hydroxyglutaric-aciduria/
  • 2-Hydroxyglutaric Aciduria. (n.d.). In PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/28188663/
  • Browning, B. L., & Browning, S. R. (2007). Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. The American Journal of Human Genetics, 81(5), 1084-1097. doi:10.1086/521987

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