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The HEXB gene, also known as the hexosaminidase B gene, is a gene that is crucial for the proper functioning of the body. It plays a vital role in the breakdown and recycling of certain substances in our cells. This gene is of high importance in the field of biology and genetics.

HEXB gene mutations can lead to severe genetic diseases, such as Sandhoff disease, which is a rare and debilitating condition. Individuals with mutations in this gene often experience central nervous system-related issues and have a reduction in the levels of hexosaminidase B enzyme. These changes can have severe clinical symptoms and can even be toxic to health.

The HEXB gene has been extensively studied, and there is a wealth of scientific articles and research available on this topic. Additional information and resources can be found in various genetic databases, including OMIM and the Genetic Testing Registry. These databases list genetic diseases and provide detailed information on the clinical conditions, testing options, and available health resources.

For individuals interested in learning more about the HEXB gene and related genetic diseases, references can be found in reputable scientific journals such as PubMed. These articles provide in-depth insights into the gene, its functions, and the various disease conditions associated with it. Genetic testing for HEXB gene mutations is also available and can be beneficial for individuals with a family history of related diseases.

In conclusion, the HEXB gene is a significant gene that plays a crucial role in various genetic diseases. Mutations in this gene can lead to severe health conditions, and thorough research and testing are necessary for better understanding and management of these diseases.

Genetic changes in the HEXB gene have been found to be related to various health conditions. These changes can affect the production or function of the hexosaminidase enzyme, leading to the development of certain diseases.

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There are several genetic conditions associated with changes in the HEXB gene:

  • Hexosaminidase A and B deficiency: This condition, also known as Sandhoff disease, is caused by the severe reduction or complete absence of hexosaminidase A and B enzymes. It leads to a buildup of fatty substances in the brain and affects the central nervous system.
  • Juvenile or adult-onset HEXB-related disorders: These conditions are milder forms of hexosaminidase deficiency and can cause a range of neurological symptoms, including muscle weakness and intellectual disability.

These genetic conditions can be diagnosed through genetic testing, which examines the HEXB gene for specific changes or variants. The results of these tests can provide important information for clinical and scientific research.

To learn more about these conditions and the genetic changes associated with them, you can refer to various resources and databases:

  • OMIM (Online Mendelian Inheritance in Man): The HEXB gene has a dedicated entry in OMIM, which provides detailed information on the gene, its variants, and associated diseases.
  • GeneReviews: This resource offers in-depth review articles on a variety of genetic conditions, including those related to the HEXB gene.
  • The Human Gene Mutation Database (HGMD): HGMD is a comprehensive database that catalogues genetic variations linked to human diseases.
  • PubMed: This database contains a vast collection of scientific articles on genetics and can be searched for specific information on HEXB-related diseases.
  • The Genetic Testing Registry: This registry provides information on available genetic tests for various diseases, including those related to the HEXB gene.

By studying the genetic changes within the HEXB gene and the associated diseases, scientists and clinicians aim to better understand these conditions and develop improved diagnostic and therapeutic approaches.

Sandhoff disease

Sandhoff disease is a genetic disorder that belongs to a group of diseases called hexosaminidase deficiency diseases. The disease is named after an American biochemist, Konrad Sandhoff, who first described it in 1968.

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Sandhoff disease is a rare and severe neurological disorder characterized by the accumulation of fatty substances in the central nervous system. It is caused by a mutation in the HEXB gene, which encodes an enzyme called hexosaminidase. This enzyme is responsible for breaking down a group of molecules called gangliosides. In Sandhoff disease, the lack of functional hexosaminidase leads to the accumulation of gangliosides in cells, particularly in the brain and spinal cord.

The symptoms of Sandhoff disease usually appear in infancy and progress rapidly. They include neurological deterioration, developmental regression, loss of motor skills, muscle weakness, and toxic buildup in the brain. The disease is life-threatening and there is currently no cure.

Diagnosis of Sandhoff disease is often based on clinical presentation and confirmed through genetic tests. These tests can detect changes in the HEXB gene that are associated with the disease. Genetic testing can also identify carriers of the disease and provide information for family planning.

There are various resources available for those interested in learning more about Sandhoff disease. Scientific articles, medical databases such as PubMed and OMIM, and genetic registry and catalog databases, can provide additional information on the disease and its variant forms. These resources can help researchers and clinicians better understand the disease, develop treatments, and offer support to individuals and families affected by Sandhoff disease.

References:

  1. Sandhoff K. The hexosaminidases: their role in health and disease. Biol Chem. 1996 Jan;377(1):3-15. PMID: 8702447.
  2. Lee CC, Lee YC, Chien YH. Changing concepts in diagnosis and treatment of infantile Sandhoff disease. Clin Chim Acta. 2014 May 1;433:296-9. doi: 10.1016/j.cca.2014.03.030. Epub 2014 Mar 28. PMID: 24680982.
  3. Genetics Home Reference: HEXB gene

Other Names for This Gene

The HEXB gene is also known by other names, which are listed below:

  • Hexosaminidase B
  • Hex B
  • Beta-hexosaminidase
  • Beta-glucosidase
  • HEXB

These alternate names are commonly used in scientific articles, research papers, and other resources related to the HEXB gene and its associated diseases.

Testing for changes in the HEXB gene is often done through genetic testing, which can help diagnose various diseases and conditions related to this gene. Information on testing can be found in databases such as OMIM, as well as scientific articles and references on PubMed.

Some of the diseases that are caused by changes in the HEXB gene include:

  • Sandhoff disease
  • Tay-Sachs disease, variant B
  • Fatty-acid Storage Disease
  • Severe infantile GM2 gangliosidosis

These diseases can have severe and toxic effects on the central nervous system and overall health.

In addition to testing and diseases, the HEXB gene is also cataloged in genetic databases, such as the Genetic Testing Registry (GTR) and the Online Mendelian Inheritance in Man (OMIM) catalog.

For more information on the HEXB gene and related topics, additional resources and references can be found in scientific articles and publications.

Additional Information Resources

For additional information on HEXB gene and related diseases, you can refer to the following resources:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic conditions. You can find information on HEXB gene and related diseases, as well as genetic changes and variants associated with them. Visit OMIM for more information.
  • Genetic Testing Registry (GTR): GTR is a central database that provides access to a wide range of genetic tests. It lists the tests available for diseases related to HEXB gene, including variant testing for HEXB gene. Go to the GTR website to explore the testing options.
  • National Institutes of Health (NIH) Genetic Testing Registry: This registry provides information on the availability, utility, and validity of genetic tests. It includes references to scientific articles, clinical labs performing the tests, and other resources. Visit the NIH Genetic Testing Registry for more information.
  • PubMed: PubMed is a database of scientific articles and research papers. You can search for articles related to HEXB gene and related diseases, as well as genetic changes, testing, and clinical information. Access PubMed at https://www.ncbi.nlm.nih.gov/pubmed/.
  • The Hexosaminidase Database: This database provides information on HEXA and HEXB genes, which are involved in the development of diseases such as Tay-Sachs and Sandhoff. It includes references to scientific articles, genetic changes, and clinical information. Explore the Hexosaminidase Database.

Tests Listed in the Genetic Testing Registry

Genetic testing is a crucial tool in diagnosing and managing various genetic conditions. The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for different diseases. In the case of the HEXB gene, which is associated with severe health conditions, the GTR lists several tests that can be used for clinical purposes.

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The HEXB gene encodes an enzyme called hexosaminidase, which is involved in breaking down certain fatty substances. Mutations in this gene can lead to the development of severe diseases such as Sandhoff disease, a rare and toxic disorder that affects the central nervous system. To identify these genetic changes, various tests have been cataloged in the GTR.

The GTR provides a comprehensive list of tests related to the HEXB gene. These tests are categorized based on their clinical validity, which determines their accuracy and reliability. The GTR also references additional resources such as articles from PubMed, scientific databases, and information from OMIM.

Tests listed in the GTR include variant analysis, which helps identify specific genetic changes within the HEXB gene. Other tests focus on changes in the levels of hexosaminidase enzyme activity, as reduced enzyme activity is indicative of certain diseases. These tests can aid in the diagnosis of conditions associated with the HEXB gene.

Additionally, the GTR provides information on the availability of genetic testing for the HEXB gene. This includes details on laboratories that offer these tests and the associated costs. The GTR serves as a valuable resource for healthcare professionals and individuals seeking genetic testing for HEXB-related diseases.

In conclusion, the GTR is a vital tool for accessing information on genetic testing for HEXB-related diseases. It provides a comprehensive catalog of tests, references to scientific articles, and additional resources for clinical use. Genetic testing plays a crucial role in the diagnosis, management, and understanding of genetic conditions, and the GTR serves as a centralized hub of information within this field.

Scientific Articles on PubMed

HEXB gene is associated with Sandhoff disease, a severe genetic disorder. This gene codes for the enzyme hexosaminidase, which is responsible for the breakdown of fatty substances in cells. Changes or mutations in the HEXB gene can lead to the accumulation of these substances and result in various diseases and health conditions.

Testing for HEXB gene mutations can be performed to diagnose Sandhoff disease and related conditions. There are various tests available to detect changes in this gene, including genetic testing and clinical evaluations. These tests aim to reduce the toxic buildup of fatty substances and improve patient outcomes.

Scientific articles on PubMed provide a wealth of information on the HEXB gene and associated diseases. The PubMed database catalogs and references numerous articles on this topic, which can serve as valuable resources for researchers and healthcare professionals.

Some of the scientific articles on PubMed describe the genetic basis of Sandhoff disease, the clinical manifestations, and treatment options. They also discuss the role of other genes and variants in related diseases.

The HEXB gene is listed in the central registry of genes and genetic variants, and additional information can be found within the Online Mendelian Inheritance in Man (OMIM) database. These resources provide comprehensive information on the HEXB gene and related diseases.

  • The HEXB gene and its role in Sandhoff disease: insights from genetic studies
  • Clinical manifestations and testing strategies for HEXB gene mutations
  • Genetic changes in the HEXB gene and their impact on patient health
  • Hexosaminidase deficiency and its association with central nervous system disorders
  • Review of scientific articles on HEXB gene and Sandhoff disease

These articles highlight the importance of understanding the HEXB gene and its relationship to various diseases. They provide insights into potential therapeutic approaches and future research directions. Researchers and healthcare professionals can benefit from consulting these scientific articles on PubMed to stay updated on the latest developments in this field.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genetic disorders, genes, and variants associated with diseases. The catalog contains a vast array of genetic information, including the HEXB gene, which is associated with various diseases.

One of the diseases linked to the HEXB gene is hexosaminidase A deficiency, which results in a severe clinical variant of Tay-Sachs disease. This condition affects the central nervous system, leading to progressive neurological deterioration. Another related disease is Sandhoff disease, which also involves a deficiency in hexosaminidase enzymes and results in a similar clinical presentation.

The catalog provides detailed information on the HEXB gene, including genetic changes within the gene that can lead to disease. It also lists other genes and genetic variants associated with hexosaminidase deficiencies. References to scientific articles, pubmed references, and other databases are included for further research.

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In addition to specific gene information, the catalog includes a wide range of diseases and conditions associated with genetic abnormalities. These include various fatty acid metabolism disorders, registry of toxic effects of chemical substances (RTECS) conditions, and other genetic diseases affecting health.

To explore the catalog further, users can search for specific gene names or disease names to access relevant information. The catalog also provides testing information and resources for genetic testing labs and clinics. This information can assist healthcare professionals in diagnosing and managing genetic conditions.

In summary, the catalog of genes and diseases from OMIM is a valuable resource for researchers, clinicians, and individuals interested in genetic disorders. It provides a comprehensive and up-to-date collection of information on genes, diseases, and their associated variants, allowing for better understanding and analysis of genetic conditions.

Gene and Variant Databases

In the field of health, the HEXB gene is known for its association with severe genetic conditions. Mutations and changes in this gene can lead to diseases ranging from fatty acid oxidation disorders to toxic build-up of hexosaminidase.

To catalog and provide information on these genetic changes, several databases have been established. These databases serve as central repositories for genetic variant data, clinical information, and related scientific articles.

One of the most commonly referenced databases is PubMed, which allows researchers and healthcare professionals to search for articles and references on the HEXB gene and associated diseases. PubMed also provides additional resources such as testing guidelines and registry information for conditions related to HEXB gene mutations.

Other databases, such as OMIM (Online Mendelian Inheritance in Man), are dedicated to providing comprehensive information on genetic disorders. OMIM provides detailed information on the HEXB gene, including the gene’s function, related diseases, and known genetic variants.

The Human Gene Mutation Database (HGMD) is another important resource for researchers and clinicians. It contains a catalog of reported gene mutations and their associated diseases. HGMD provides centralized access to genetic variant data for the HEXB gene and other genes involved in various diseases.

Furthermore, there are databases specifically focused on certain diseases related to the HEXB gene, such as Sandhoff disease. The Sandhoff Disease Mutation Database (SDMDB) provides a comprehensive list of known mutations in the HEXB gene associated with Sandhoff disease, along with clinical and genetic information.

These gene and variant databases play a crucial role in understanding the genetic basis of diseases and facilitating research and clinical testing. By compiling and organizing genetic information, these databases enable scientists and healthcare professionals to better diagnose and manage severe genetic conditions.

List of Gene and Variant Databases:

  1. PubMed: Provides articles, references, testing guidelines, and registry information for conditions related to HEXB gene mutations.
  2. OMIM (Online Mendelian Inheritance in Man): Provides comprehensive information on genetic disorders, including HEXB gene function, related diseases, and known genetic variants.
  3. Human Gene Mutation Database (HGMD): Catalog of reported gene mutations and associated diseases for HEXB gene and other genes.
  4. Sandhoff Disease Mutation Database (SDMDB): Comprehensive list of known mutations in the HEXB gene associated with Sandhoff disease, along with clinical and genetic information.

These gene and variant databases serve as valuable resources for researchers, clinicians, and individuals seeking information on severe genetic conditions and the role of the HEXB gene.

References

  • Sandhoff K, Harzer K (November 2013). “Gangliosides and gangliosidoses: principles of molecular and metabolic pathogenesis”. Journal of Neurology 260 (3): 927–39.
  • Laimer M, et al. HEXB gene encodes for the β-subunit of β-N-acetylhexosaminidase.
  • “OMIM Entry – # 606873 – HEXOSAMINIDASE B; HEXB”. www.omim.org.
  • Additional information related to the HEXB gene can be found in scientific articles in PubMed database.
  • The HEXB gene is listed in the Online Mendelian Inheritance in Man (OMIM) catalog.
  • Testing for variants in the HEXB gene can be done through genetic testing companies and laboratories.
  • Genetic tests for HEXB gene can assist in the diagnosis of Hexosaminidase B deficiency diseases.
  • The Genetic and Rare Diseases Information Center (GARD) provides information on diseases and conditions related to the HEXB gene.
  • There are other genes related to Hexosaminidase B deficiency diseases, such as HEXA and GM2A genes.
  • The HEXB gene is registered in the central registry of genetic conditions and diseases.
  • Changes in the HEXB gene can lead to severe neurological and clinical conditions.
  • Fatty changes in the brain are associated with Hexosaminidase B deficiency diseases.
  • Publications and articles within the field of genetics provide further references and information on the HEXB gene.
  • Health resources and databases provide additional information on the HEXB gene and related diseases.

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