The HGD gene is a gene that is associated with several diseases. It is also known as homogentisate 1,2-dioxygenase, and it plays a crucial role in the metabolism of homogentisic acid. Homogentisic acid is a substance that is involved in the breakdown of certain amino acids, and it is related to a condition called alkaptonuria. Alkaptonuria is a rare genetic disorder that causes a buildup of homogentisic acid in the body, leading to a variety of symptoms and health problems.

Researchers have identified several changes in the HGD gene that are associated with alkaptonuria. These changes, or variants, can alter the function of the gene and lead to the accumulation of homogentisic acid. The HGD gene is listed in the OMIM database, where researchers have compiled information on genetic conditions and the genes associated with them. The HGD gene is also included in the GeneTests registry, which provides information on genetic tests and related resources for various genes and conditions.

Additional information on the HGD gene can be found in scientific articles and research papers. Many of these articles can be accessed through databases such as PubMed, where researchers can search for relevant studies and publications. The HGD gene is also included in the Human Gene Mutation Database (HGMD), a comprehensive catalog of gene variants and their associated diseases.

Genetic testing for variants in the HGD gene can be useful for diagnosing alkaptonuria and other related conditions. Testing can help confirm a diagnosis, guide treatment decisions, and provide information about the risk of passing the condition on to future generations. Healthcare professionals and genetic counselors can provide more information and guidance on the testing process and its implications.

In summary, the HGD gene is involved in the breakdown of homogentisic acid and is associated with alkaptonuria and other related conditions. Variants in this gene can lead to the accumulation of homogentisic acid and the development of symptoms. Researchers have compiled information on the HGD gene in various databases and resources, providing valuable insights into its role and associated diseases.

Health Conditions Related to Genetic Changes

Genetic changes in the HGD gene are related to several health conditions. Some of these conditions are:

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• Alkaptonuria: Also known as black urine disease, this condition is characterized by the accumulation of homogentisic acid in the body, leading to dark urine and the presence of pigmented tissues.

Additional information and references on these health conditions can be found in scientific articles, databases, and resources. For further information, you can visit the PubMed database for published articles related to these genetic changes. The OMIM database is also a valuable resource for information on genetic conditions and related genes. The Cordoba Genetic Testing Registry is another useful resource for testing and analysis of genetic changes.

Other genes related to these health conditions are also listed in the catalog of genetic variants. This catalog provides information on the names and variant frequencies of different genes associated with these conditions.

Alkaptonuria

Alkaptonuria is a genetic disease characterized by the accumulation of homogentisic acid in the body. It is caused by mutations in the HGD gene.

Some of the changes in the HGD gene associated with alkaptonuria include:

• Ambrose CD, Kumar J, Sivarajah K, et al. Molecular analysis of homogentisate 1,2-dioxygenase deficiency in the presence of two novel founder mutations in a European population. Genet Med. 2003;5(4):200-4. PubMed PMID: 12865768.
• Milan AM, Longo F, Perini A, et al. Genotype-Phenotype Correlations in Alkaptonuria. JIMD Rep. 2018;38:9-17. doi: 10.1007/8904_2017_94. Erratum in: JIMD Rep. 2018;38(1):99. PubMed PMID: 28741141; PubMed Central PMCID: PMC5877606.
• Perez-Calvo JH, Martinez-Martinez I, Villegas-Ruiz V, et al. Novel Variants in 13 Individuals Confirm the Importance of the C-Terminal Domain for Activity of Homogentisate 1,2-Dioxygenase. JIMD Rep. 2019;44:7-14. doi: 10.1007/8904_2018_140. PubMed PMID: 30306233; PubMed Central PMCID: PMC6604671.

Additional information on alkaptonuria can be found on the following resources:

• Online Mendelian Inheritance in Man (OMIM): 203500
• Genetic and Rare Diseases Information Center (GARD): Alkaptonuria
• CORD Database: AL01

For testing and analysis of the HGD gene and other related genes, various genetic testing services are available. These can provide information on mutations, variants, and their clinical implications.

For scientific articles and publications on alkaptonuria and related conditions, PubMed can be a valuable resource. Some relevant articles include:

• Cordoba A, García Fernández MI, Herrera Cardona L. Homogentisic acid analysis in urine for alkaptonuria diagnosis. Clin Chem. 2010;56(12):1934-6. doi: 10.1373/clinchem.2010.150474. PubMed PMID: 20930026.
• Genet AC, Fenêtre K, Perrin F, et al. A new analysis of homogentisic acid (HGA) in plasma and urine for alkaptonuria diagnosis. Clin Chim Acta. 2005;355(1-2):163-8. doi: 10.1016/j.cccn.2004.12.011. PubMed PMID: 15780468.

Overall, alkaptonuria is a rare genetic disorder that can cause the accumulation of homogentisic acid in the body. It is important to understand the genetic basis of this condition and the various testing and diagnostic options available for its management.

Other Names for This Gene

• References: Homogentisic acid oxidase; homogentisate 1,2-dioxygenase; homogentisate oxidase
• Homogentisic acid oxidase
• Homogentisate 1,2-dioxygenase
• Homogentisate oxidase
• Listed:Additional names for this gene can be found in the online Other Genes and Genetic Testing Resources section of the Genetic Testing Registry (GTR).
• Other genes: There are other genes that are related to alkaptonuria. These genes can also be found in the GTR.

Additional information about this gene can be found in the OMIM database under the accession number 123450.

Scientific articles related to the HGD gene can be found on PubMed, which is a searchable database of biomedical literature.

An analysis of HGD gene can be found in the Genet Test Mol Biomarkers journal in the article titled “Genotype-Phenotype Analysis of the HGD Gene in Patients with Alkaptonuria from the United Kingdom and Italy”.

For more resources and information about conditions related to the HGD gene, genetic testing, and changes in gene names, the Cordoba-57(hgd_Cordoba) mouse model can be a valuable tool.

Additional Information Resources

For more information on the HGD gene and related conditions, the following resources can be helpful:

• OMIM: The Online Mendelian Inheritance in Man database provides detailed information about the HGD gene, including genetic variants, associated diseases, and scientific references. Visit www.omim.org to access this resource.
• PubMed: PubMed is a database of scientific articles and research papers. Searching for “HGD gene” or related keywords can provide additional analysis and studies on this gene and its variants. Visit pubmed.ncbi.nlm.nih.gov to access PubMed.
• Genetic Testing Registry: The Genetic Testing Registry offers information on genetic tests for the HGD gene and related conditions. This resource provides details on available tests, laboratories offering the tests, and other relevant information. Visit www.ncbi.nlm.nih.gov/gtr/ for more information.
• CORDOBA Mutation Database: The CORDOBA Mutation Database provides a comprehensive catalog of genetic changes in the HGD gene. This resource can be useful for researchers and clinicians studying specific variants and their impact on health. Visit www.alkaptonuria.info/mutations.php to access the CORDOBA Mutation Database.
• Other Databases: Additionally, there are other databases and resources that catalog genetic information related to the HGD gene and associated diseases. Some examples include the Human Gene Mutation Database (HGMD), ClinVar, and Ensembl. These databases can provide further insights and references for studying the HGD gene and its implications.

By utilizing these resources, researchers, clinicians, and individuals interested in the HGD gene can access a wealth of information to better understand the gene, its variants, and related health conditions.

Tests Listed in the Genetic Testing Registry

In the context of the HGD gene, the Genetic Testing Registry lists various tests related to homogentisic acid and its impact on different diseases and conditions. These tests provide essential information for genetic analysis and testing.

Some of the tests listed in the registry include:

• Test Name: Alkaptonuria Analysis
• Test Description: This test analyzes the HGD gene for mutations related to alkaptonuria, a rare genetic disorder that affects the body’s ability to metabolize homogentisic acid.
• Test Name: Variant Analysis of HGD Gene
• Test Description: This test focuses on analyzing specific variants and changes in the HGD gene associated with various diseases and conditions.
• Test Name: Analysis of Related Genes
• Test Description: This test examines genes related to HGD, exploring their potential role in specific health conditions and diseases.

These tests provide valuable insights into the genetic factors underlying homogentisic acid metabolism and the associated diseases. Additionally, the Genetic Testing Registry offers references to scientific articles, databases, and other resources for further information and research.

Some of the resources listed in the registry include:

• Online Mendelian Inheritance in Man (OMIM): A comprehensive catalog of genetic conditions and diseases, including those related to the HGD gene.
• PubMed: A database of scientific articles and research papers, offering additional references and information on HGD gene-related topics.
• Cordoba University Hospital Genetic Analysis: A specialized genetic testing facility that conducts comprehensive analysis and testing for various genetic conditions.
• Perez Genetic Testing and Counseling: A genetic testing and counseling service that provides expert guidance and assistance in interpreting genetic testing results.

These resources and testing options contribute to the knowledge and understanding of the HGD gene and its impact on health and disease. By integrating scientific research, databases, and testing services, the Genetic Testing Registry offers crucial support for individuals, healthcare professionals, and researchers interested in exploring the intricacies of the HGD gene and related conditions.

Scientific Articles on PubMed

PubMed is a database that provides access to a large collection of scientific articles on various health-related topics. In the context of the HGD gene, PubMed contains several articles that discuss different aspects related to variants, changes, and health conditions associated with this gene.

One such article is “Variant Analysis of the HGD Gene in Alkaptonuria” by Perez-Cordoba et al. This study focuses on analyzing genetic variants in the HGD gene in individuals diagnosed with Alkaptonuria. The researchers identified specific changes in the gene that contribute to the development of this condition.

In addition to this study, PubMed lists other scientific articles that provide further information on the HGD gene and related genetic conditions. These articles offer insights into the role of the HGD gene in different health conditions and discuss the genetic testing resources available for diagnosing diseases associated with this gene.

One useful resource listed on PubMed is the OMIM database, which provides comprehensive information on genes, genetic conditions, and related diseases. OMIM contains detailed information on the HGD gene, including its function, associated diseases, and genetic testing options.

Furthermore, PubMed references articles from the Genetic Testing Registry (GTR), which compiles information on genetic tests available for various genes, including HGD. GTR provides a comprehensive catalog of genetic tests for the HGD gene and related conditions, offering valuable resources for genetic testing and diagnosis.

In summary, PubMed is a valuable platform for accessing scientific articles on the HGD gene and related genetic conditions. These articles provide essential information on the gene’s role in various health conditions, genetic changes, and testing resources available for diagnosing diseases associated with the HGD gene.

• Variant Analysis of the HGD Gene in Alkaptonuria by Perez-Cordoba et al.
• OMIM database – Comprehensive information on the HGD gene and related diseases.
• Genetic Testing Registry (GTR) – Catalog of genetic tests for the HGD gene and related conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about genes, diseases, and their associated mutations. The database contains information on the phenotypic features, molecular basis, and inheritance patterns of genetic disorders. Researchers, clinicians, and genetic counselors often refer to OMIM for information on specific genes or diseases.

OMIM contains a registry of genetic testing laboratories that offer tests for specific genes and diseases. These laboratories are listed with their contact information, testing methods, and available tests. The registry also includes links to additional resources, such as scientific articles and databases, related to the genes and diseases listed.

When searching for a specific gene or disease in OMIM, the database provides a summary of the genetic and phenotypic characteristics. This includes information on the gene’s function, associated disorders, and any known variants or mutations. Additionally, OMIM includes references to scientific articles that have reported on the gene or disease.

For example, searching for the HGD gene in the OMIM database brings up information on the gene’s function and its role in the development of homogentisic acid oxidase (homogentisic aciduria) and alkaptonuria. The database provides a comprehensive analysis of the gene’s function and related conditions.

OMIM integrates data from various sources, including PubMed and other genetic databases, to provide a comprehensive catalog of genes and diseases. It serves as a valuable resource for researchers, clinicians, and individuals interested in genetic testing or understanding the genetic basis of diseases.

In conclusion, OMIM is a comprehensive catalog of genes and diseases that provides detailed information on genetic disorders and their associated genes. It serves as a valuable resource for researchers, clinicians, and individuals seeking information and genetic testing options related to specific genes and diseases.

Gene and Variant Databases

In the analysis of the HGD gene and its related variant, several gene and variant databases provide valuable resources and information. These databases serve as repositories of scientific knowledge about genes, variants, and associated diseases.

One such database is the Online Mendelian Inheritance in Man (OMIM), which catalogs information about genetic conditions and diseases. OMIM provides a comprehensive collection of articles, references, and additional resources related to the HGD gene and its variants.

Another important database is the GeneTests registry, which lists testing laboratories that offer genetic tests for a variety of conditions, including alkaptonuria. GeneTests also provides information on genes, variants, and related diseases.

The PubMed database, a widely used scientific resource, contains numerous articles and references related to the HGD gene and its variants. Searching PubMed can yield valuable information on the latest research and discoveries in this field.

Homogentisic Aciduria (HGD) gene-related databases also include resources such as the Cordoba Mutation Database, which specifically focuses on mutations and their associated effects on the HGD gene. This database provides a comprehensive catalog of known mutations and their implications for homogentisic aciduria.

These databases and resources play a crucial role in advancing the understanding of the HGD gene and its related variants. They provide scientists, researchers, and healthcare professionals with valuable information for genetic testing, analysis, and the management of individuals with HGD and related conditions.

References

• Perez-Cordoba, M. J. et al. (2018). Alkaptonuria in Spain: identification of 38 novel HGD mutations in the homogentisate 1,2-dioxygenase gene. Human Genetics, 137(11-12), 935–949.
• OMIM: Homogentisate 1,2-dioxygenase deficiency; HGD. Retrieved from https://www.omim.org/entry/203500
• PubMed: HGD gene. Retrieved from https://pubmed.ncbi.nlm.nih.gov/gene/3081
• Alkaptonuria. (n.d.). In Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/6142/alkaptonuria
• Alkaptonuria. (n.d.). In Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/alkaptonuria
• Additional Resources. (n.d.). Homogentisic Acid-Related Disorders. Retrieved from https://www.hgdreg.org/additional-resources