The HOGA1 gene, also known as 4-hydroxy-2-oxoglutarate aldolase 1, plays a significant role in the development and progression of hyperoxaluria. Hyperoxaluria is a condition characterized by an excessive accumulation and excretion of oxalate in the urine, which can lead to the formation of kidney stones and other related health issues.
Research has shown that mutations in the HOGA1 gene can result in the impaired function of enzymes involved in the breakdown of hydroxyproline and pyruvate, two amino acids that are vital for normal metabolism. These genetic changes can lead to an abnormal buildup of oxalate in the body, contributing to the development of primary hyperoxaluria, a rare genetic disorder.
Understanding the role of the HOGA1 gene in hyperoxaluria has paved the way for advancements in diagnosis and treatment. Individuals with suspected hyperoxaluria can undergo genetic testing to identify mutations in the HOGA1 gene, which can be informative for clinical management and genetic counseling. Additionally, further research on the HOGA1 gene has led to the development of databases and registries that list additional information and resources related to this gene and its associated conditions.
Scientific articles and references on the HOGA1 gene can be found in various databases, such as PubMed and OMIM. These resources provide detailed information on the genetic changes, clinical manifestations, and treatment options for individuals with HOGA1-related diseases. The abstracts and full-text articles available in these databases offer valuable insights into the underlying mechanisms and potential therapeutic strategies for managing hyperoxaluria.
In conclusion, the HOGA1 gene holds significant importance in understanding and managing hyperoxaluria. Its role in the metabolism of hydroxyproline and pyruvate, along with its genetic changes, can have a direct impact on the development of primary hyperoxaluria. Ongoing research and advancements in genetic testing have allowed healthcare professionals to better diagnose and treat individuals with HOGA1-related diseases.
Health Conditions Related to Genetic Changes
Genes are the units of information in cells that contain the instructions for making proteins, the building blocks of the body. Changes in genes, also known as genetic changes, can lead to a variety of health conditions. One such health condition is hyperoxaluria, a primary hyperoxaluria caused by genetic changes in the HOGA1 gene.
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Hyperoxaluria is a disease where there is an increased level of oxalate in the urine. Oxalate is a compound that is normally produced by the body and excreted in the urine. However, in individuals with hyperoxaluria, the enzyme produced by the HOGA1 gene, which is responsible for converting the compound pyruvate to hydroxyproline, is not functioning properly. As a result, the excess oxalate can form crystals in the kidneys and other parts of the urinary tract, leading to kidney stones, kidney damage, and other related health problems.
For additional information on genetic changes related to hyperoxaluria, resources such as scientific articles, genetic testing databases, and registries can be helpful. One such resource is PubMed, a database of scientific articles. By searching for keywords such as “HOGA1 gene” and “hyperoxaluria,” relevant articles can be found. The Online Mendelian Inheritance in Man (OMIM) database is another useful resource that provides detailed information on genes, genetic conditions, and the associated clinical features.
Genetic testing can be done to identify specific genetic changes in individuals suspected of having hyperoxaluria. This testing can involve sequencing the HOGA1 gene to look for variants or changes in its DNA sequence. If a genetic change is identified, it can help confirm a diagnosis and provide important information for treatment and management. In some cases, genetic testing may also be performed on family members of affected individuals to determine if they are at risk of developing the condition.
It is important to note that the genetic changes related to hyperoxaluria are not the only genetic changes that can lead to health conditions. There are many other genes and genetic conditions that have been identified, and the scientific understanding of these conditions is constantly evolving. The information provided here is just a starting point, and further research and consultation with healthcare professionals are necessary to fully understand and address genetic changes and their impact on health.
- Online Mendelian Inheritance in Man (OMIM) database. Retrieved from https://www.omim.org/
- PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/
Primary hyperoxaluria is a rare genetic disorder characterized by the overproduction of oxalate, a substance that can form crystals in the kidneys and other organs. This condition is caused by mutations in the HOGA1 gene, which provides instructions for making an enzyme called hydroxyproline oxidase.
Genes and related conditions:
- Primary hyperoxaluria is primarily caused by mutations in the HOGA1 gene, but other genes such as AGXT and GRHPR are also associated with this condition.
- Changes in these genes can disrupt the normal function of enzymes involved in the conversion of hydroxyproline to pyruvate, leading to an excessive production of oxalate.
- Primary hyperoxaluria is also listed in the Online Mendelian Inheritance in Man (OMIM) catalog under different names such as “Hyperoxaluria primary 1” and “Hyperoxaluria type 1”.
Testing and diagnosis:
- Genetic testing can be performed to identify mutations in the HOGA1 gene or other genes associated with primary hyperoxaluria.
- Additional tests, such as urine and blood tests, may be conducted to measure oxalate levels and determine the severity of the condition.
Treatment and management:
- Treatment options for primary hyperoxaluria include dietary changes, medications, and in severe cases, liver or kidney transplantation.
- Regular monitoring of oxalate levels and kidney function is essential to prevent complications and manage the condition effectively.
- “Primary hyperoxaluria”. Genetics Home Reference. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/condition/primary-hyperoxaluria.
- “Primary Hyperoxaluria Overview”. National Kidney Foundation. https://www.kidney.org/atoz/content/primary-hyperoxaluria.
- “Primary Hyperoxaluria Type 1”. NORD (National Organization for Rare Disorders). https://rarediseases.org/rare-diseases/primary-hyperoxaluria-type-1/.
Other Names for This Gene
The HOGA1 gene is also known by the following names:
- 4-pyridoxic acid oxidase
- 4-pyridoxate oxidase
- hydroxyproline dehydrogenase
- hyperoxaluria, primary, type I
- oxamate amidohydrolase
- pyridoxic acid oxidase
Additional Information Resources
For additional information on the HOGA1 gene, individuals can refer to the following resources:
– Primary scientific literature, including abstracts and full-text articles, can be found on the PubMed database. These articles provide detailed information on the genetic changes and variant conditions related to the HOGA1 gene.
– The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic diseases. The HOGA1 gene is listed in the OMIM database, along with references to relevant scientific articles.
– Genetic testing laboratories can provide further information on testing options for HOGA1 gene variants. These labs offer various tests, including hydroxyproline testing, to determine the presence of hyperoxaluria and other related conditions.
– Databases and registries, such as the HOGA1 Variant Database, compile information on gene variants and associated diseases. These resources help in understanding the impact of specific genetic changes on an individual’s health.
– Conversion tools, such as the Pyruvate Kinase Deficiency Gene and Enzyme Variant Database, can be used to convert gene names and variant changes between different databases and naming conventions.
It is important to consult these resources and other reliable sources for accurate and up-to-date information on the HOGA1 gene and related conditions.
Tests Listed in the Genetic Testing Registry
Genes associated with the HOGA1 gene:
Genetic testing involves examining an individual’s DNA to identify changes or mutations in specific genes. In the case of HOGA1 gene, the primary purpose of genetic testing is to diagnose hyperoxaluria, a condition characterized by high levels of a substance called oxalate in the urine.
Genetic testing can be conducted for various reasons, including confirming a diagnosis, predicting disease risk, informing reproductive decisions, and guiding treatment choices.
The Genetic Testing Registry (GTR), a scientific resource provided by the National Institutes of Health, is a comprehensive catalog of genetic tests for various diseases and conditions. It includes information on the purpose of the test, the genes being tested, the associated diseases or conditions, and references to scientific articles and databases.
In the case of the HOGA1 gene, the GTR lists the following tests:
- HOGA1 Gene Sequencing – This test examines the DNA sequence of the HOGA1 gene to identify any changes or mutations.
- HOGA1 Gene Deletion/Duplication Analysis – This test detects large-scale deletions or duplications of the HOGA1 gene.
Additional information related to the HOGA1 gene and hyperoxaluria can be found in scientific databases such as PubMed and OMIM. These resources provide abstracts and references to articles that further explore the genetics, enzymes, and cellular changes associated with hyperoxaluria.
In summary, genetic testing for the HOGA1 gene is primarily used to diagnose hyperoxaluria. The GTR provides a catalog of tests, including gene sequencing and deletion/duplication analysis, while PubMed and OMIM offer additional information and references for those seeking more in-depth knowledge about this gene and its associated conditions.
Scientific Articles on PubMed
Scientific articles on PubMed provide a valuable source of information for researchers and healthcare professionals. PubMed is a database of scientific literature that contains millions of articles from various fields of study, including genetics. Using PubMed, researchers can access primary research on the HOGA1 gene and its role in health and disease.
- One of the primary articles on PubMed related to the HOGA1 gene is titled “HOGA1 gene variants in primary hyperoxaluria type 3: Genotype-phenotype correlation and impact on the severity of the disease.”
- This article explores the genetic changes in the HOGA1 gene and how they are related to the development and progression of primary hyperoxaluria type 3, a rare genetic condition.
- Other articles on PubMed discuss the role of the HOGA1 gene in conditions such as kidney stones and kidney transplant outcomes.
PubMed provides additional resources for researchers and healthcare professionals. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of genes and genetic conditions. OMIM lists the HOGA1 gene and provides information about its role in primary hyperoxaluria and other related diseases.
Researchers can also find references to scientific articles on PubMed that discuss the HOGA1 gene. These references can be used to gather additional information and cite relevant studies in research papers.
To convert the genetic information obtained from PubMed articles into practical applications, further tests and studies may be required. These tests can include genetic testing to identify specific changes in the HOGA1 gene and other related genes. Additionally, laboratory tests can measure the levels of enzymes such as pyruvate and hydroxyproline, which are affected by HOGA1 gene variants.
Overall, PubMed is a valuable resource for researchers and healthcare professionals seeking scientific articles and information about the HOGA1 gene. Through PubMed, individuals can access abstracts, full-text articles, and additional resources to further understand the genetic variants and their implications in health and disease.
Catalog of Genes and Diseases from OMIM
Welcome to the Catalog of Genes and Diseases from OMIM. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive and regularly updated registry of human genes and genetic diseases. It provides valuable information on the genetic causes, clinical features, and inheritance patterns of various diseases.
In this catalog, you can find detailed information on gene-disease associations, including the HOGA1 gene. The HOGA1 gene’s role in human health is still unclear, as described in the abstract of the corresponding OMIM entry.
The catalog lists genes and diseases alphabetically, making it easy to search for specific information. It provides links to additional resources, such as scientific articles and related databases, to further explore the genetic basis of diseases and potential treatment options.
If you are interested in a specific gene or disease, you can perform a quick search using the provided search bar. The search results will include relevant OMIM entries and related articles from PubMed, a widely recognized database of scientific literature.
The catalog also includes a section on genetic testing. It provides information on genetic tests available for specific genes or conditions, helping individuals and healthcare professionals make informed decisions about genetic testing.
In addition, the catalog highlights primary and secondary references, allowing readers to follow the scientific trail and validate the information presented. The references include citations from PubMed articles and other reputable sources.
Whether you are a researcher, healthcare professional, or an individual seeking information on genetic diseases, the Catalog of Genes and Diseases from OMIM is a valuable resource. It helps bridge the gap between scientific research and real-world applications, promoting better understanding and management of genetic conditions.
|Hydroxyproline Metabolic Defect
|Hypoglycemia with Deficiency of Pyruvate Carboxylase or Pyruvate Dehydrogenase
- Genes listed in the catalog:
- Other genes
- Genes of interest
We encourage you to explore the catalog and benefit from the wealth of information it provides. Stay up to date with the latest discoveries and advancements in the field of genetic medicine.
Gene and Variant Databases
Gene and variant databases serve as valuable resources for scientists and clinicians in understanding the genetic basis of diseases and identifying genetic variants associated with specific conditions. These databases compile information on genes, their variants, and associated phenotypes, allowing researchers and healthcare professionals to access comprehensive and up-to-date information for diagnostic testing, research, and clinical management.
There are several gene and variant databases available, including:
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of genes and genetic disorders that provides detailed information on genes, genetic variants, and associated phenotypes. It includes scientific articles, references, and additional resources related to specific genes and conditions.
- PubMed: PubMed is a repository of scientific articles and references from various biomedical journals. It can be used to search for publications related to specific genes or variants, providing additional information on their functions, roles in disease, and potential therapeutic targets.
- HGMD (Human Gene Mutation Database): HGMD is a database focused on disease-causing mutations in human genes. It contains information on genetic variants associated with various diseases and their clinical significance.
- Ensembl: Ensembl is a genome browser and database that provides comprehensive annotations of genes, genetic variants, and associated regulatory elements. It offers tools for genomic data analysis and visualization.
- ClinVar: ClinVar is a database that collects information on genetic variations and their clinical significance. It aggregates data from multiple sources, including research laboratories and clinical testing providers.
These databases offer various features and resources to support gene and variant analysis, including variant classification, variant frequency in populations, gene-disease associations, genetic testing laboratories, and more. They are regularly updated with new findings and research studies to keep the information current.
It is important to note that while these databases provide valuable information, interpretations of genetic variants should be made in the context of clinical assessment and follow-up testing. Genetic testing should be performed by qualified healthcare professionals using validated testing methods and interpreted in conjunction with the individual’s health history and clinical presentation.
- Changes ClinicalTrials.gov Identifier: NCT04203428; Pubmed ID: 32075889
- Genes and Diseases: HOGA1 gene, hyperoxaluria, primary hyperoxaluria, pyruvate, genetic testing, liver transplant
- Genetic Resources: OMIM, PubMed
- Registry: OMIM, PubMed
- Variant Nomenclature: HOGA1, HOGA1 gene, hyperoxaluria
- Catalog of genetic tests and laboratories: HOGA1 gene testing
- Additional Information: Primary hyperoxaluria, pyruvate and hydroxyproline metabolism, genetic variant information, health conditions associated with HOGA1 gene
- Primary Databases: OMIM, PubMed
- Primary Scientific Articles: Pubmed ID: 32075889, Pubmed ID: 28974485
- Convert and Abstracts to PubMed: HOGA1 gene, hyperoxaluria, primary hyperoxaluria
- Databases: OMIM, PubMed
- Related Genes: genes involved in pyruvate and hydroxyproline metabolism, genes associated with hyperoxaluria
- Testing Scopes: Primary hyperoxaluria, testing for HOGA1 gene variants