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The HSD3B7 gene is related to genetic defects in the synthesis of bile acids, which are fat-soluble acids. Impaired function of this gene can lead to several congenital and acquired diseases. The Variant database OMIM provides information on the genetic changes in the HSD3B7 gene that are associated with these diseases.

Tests and scientific articles related to the HSD3B7 gene can be found in databases such as PubMed and the Online Mendelian Inheritance in Man (OMIM). These resources provide additional information on the function and health implications of this gene.

In patients with defects in the HSD3B7 gene, bile acid synthesis is blocked, leading to elevated levels of 5-c27-steroid in the blood. This can result in impaired release of fat-soluble vitamins and other conditions related to bile acid metabolism. The HSD3B7 gene has been extensively studied in the context of congenital bile acid synthesis defects and related diseases.

References:

1. Catalog of human genes and genetic disorders. National Institutes of Health, n.d. Available at: [link]

2. OMIM (Online Mendelian Inheritance in Man). Johns Hopkins University, n.d. Available at: [link]

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3. PubMed. National Center for Biotechnology Information, n.d. Available at: [link]

Genetic changes in the HSD3B7 gene can lead to various health conditions. Here is some additional information on the diseases and conditions associated with these genetic changes:

  • Impaired bile acid synthesis, congenital, 1: This genetic defect results in the impaired synthesis of bile acids, which are important for fat-soluble vitamin absorption. It can lead to liver dysfunction and other health problems.
  • 5-beta-hydroxysteroid dehydrogenase deficiency: This condition affects the production of a specific type of steroid hormone, leading to hormonal imbalances and various symptoms.

The most common health conditions related to genetic changes in the HSD3B7 gene are listed in the Online Mendelian Inheritance in Man (OMIM) database. This scientific resource provides comprehensive information on genetic disorders and their associated genes.

For more information and references on genetic changes in the HSD3B7 gene and related health conditions, you can refer to scientific articles available on PubMed and other genetic databases.

Genetic testing and diagnostic tests can help identify variants in the HSD3B7 gene and assess their impact on health. These tests are important for the diagnosis and management of individuals with potential genetic changes in this gene.

In summary, genetic changes in the HSD3B7 gene can lead to various health conditions related to impaired bile acid synthesis, congenital defects, and hormonal imbalances. It is essential to utilize the available resources and diagnostic tests to understand and manage these conditions effectively.

Congenital bile acid synthesis defect type 1

Congenital bile acid synthesis defect type 1 is a genetic disorder caused by a variant in the HSD3B7 gene, which is involved in bile acid synthesis. Bile acids are fat-soluble acids that play a crucial role in the digestion and absorption of dietary fat.

In individuals with this defect, the impaired synthesis of bile acids leads to a buildup of toxic metabolites and blocks the normal flow of bile, resulting in various health conditions. These conditions can include liver damage, impaired absorption of fat-soluble vitamins, and other changes in the body’s metabolism.

Diagnosis of congenital bile acid synthesis defect type 1 is typically made through genetic testing. There are several resources available for genetic testing, including databases, such as OMIM and PubMed, which provide additional information on the HSD3B7 gene and related variants. The Genetic Testing Registry also lists testing laboratories and available tests for this condition.

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Treatment for congenital bile acid synthesis defect type 1 focuses on managing the symptoms and complications associated with the condition. This may involve dietary changes, vitamin supplementation, or other medical interventions. It is important for individuals with this condition to work closely with healthcare professionals to ensure optimal management of their health.

Further scientific articles and references on congenital bile acid synthesis defect type 1 can be found in scientific journals and medical databases. These resources provide valuable information for healthcare professionals and researchers studying this condition.

In conclusion, congenital bile acid synthesis defect type 1 is a genetic disorder caused by a variant in the HSD3B7 gene. It leads to impaired bile acid synthesis, resulting in various health conditions. Genetic testing and resources such as databases and scientific articles provide additional information and support for diagnosis and management of this condition.

Other Names for This Gene

This genetic defect is also listed under the following names:

  • BHDCA1
  • 3betaHSD IV
  • HSD3B7-related bile acid synthesis defect

These names are all related to the impaired synthesis of bile acids caused by changes in the HSD3B7 gene.

Additional information about this gene can be found in the HSD3B7 GeneReviews article and the OMIM database.

There are also other scientific articles on this gene in PubMed that provide more detailed information.

Genetic testing for variants in the HSD3B7 gene can help diagnose conditions related to impaired bile acid synthesis.

Genetic testing resources, such as the Genetic Testing Registry and the NCBI’s ClinVar database, provide information on available tests and their clinical significance.

Most of the genetic changes in the HSD3B7 gene are inherited in an autosomal recessive type, meaning that both copies of the gene must be mutated to cause the condition.

Tests for impaired bile acid synthesis can include measurements of specific bile acids or other related metabolites in urine, blood, or other tissues.

In addition, testing may involve sequencing of the HSD3B7 gene or other related genes to identify specific variants.

For more resources and information on diseases associated with the HSD3B7 gene, you can visit the HSD3B7 Catalog of Genes and Diseases or contact your healthcare provider.

Additional Information Resources

Here is a list of additional resources for more information on the HSD3B7 gene:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. The HSD3B7 gene and related diseases can be found in the OMIM database.
  • PubMed: PubMed is a database of scientific articles from various fields. It contains information on the HSD3B7 gene and its role in bile acid synthesis.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) is a centralized database of genetic tests and their associated laboratories. It provides information on available tests for HSD3B7 gene defects.
  • Health and Disease Articles: There are several articles available on various health and disease websites that discuss the HSD3B7 gene and its implications in different conditions.
  • Genetic Variant Databases: Various genetic variant databases contain information on specific gene changes and their associated conditions. These databases can be useful for exploring HSD3B7 gene variants.
  • Fat-soluble Vitamins: Information on fat-soluble vitamins and their metabolism, which can be affected by HSD3B7 gene defects, can be found in nutritional and health resources.

For more detailed and specific information on the HSD3B7 gene and related conditions, it is recommended to refer to the references and resources mentioned above.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry is a catalog of genetic tests and related information. It provides a comprehensive list of tests that are available for the HSD3B7 gene, which is involved in the synthesis of certain fat-soluble vitamins and bile acids.

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Genetic testing helps to identify changes or variants in genes that may be associated with specific diseases or conditions. In the case of the HSD3B7 gene, genetic testing can help diagnose the congenital defect known as 5-c27-steroid synthesis defect. This defect impairs the body’s ability to synthesize certain bile acids and fat-soluble vitamins.

The Genetic Testing Registry lists the following tests related to the HSD3B7 gene:

  • Test 1: This test detects changes or variants in the HSD3B7 gene that are associated with the impaired synthesis of bile acids and fat-soluble vitamins.

Additional tests may be available for other genes that are related to the HSD3B7 gene and its functions. To access more information on these tests, you can refer to the Genetic Testing Registry.

The Genetic Testing Registry is a valuable scientific resource for researchers and healthcare professionals. It provides access to information on genetic tests, including their names, types of tests, testing laboratories, and references to scientific articles and databases such as OMIM and PubMed.

Genetic testing is an important tool in understanding and diagnosing genetic diseases and conditions. It can help healthcare professionals to provide targeted treatment and management options for individuals with genetic variants or changes in the HSD3B7 gene.

If you are interested in genetic testing for HSD3B7 gene-related conditions, it is recommended to consult with a healthcare professional to determine which tests may be most appropriate for you.

Scientific Articles on PubMed

The HSD3B7 gene is associated with congenital diseases and changes in fat-soluble vitamins, 5-c27-steroid acids, and bile acids. The gene is listed on various genetic databases such as OMIM and plays a critical role in the synthesis of beta-hydroxysteroid dehydrogenase, which is impaired in certain diseases.

There are several articles on PubMed related to the HSD3B7 gene and its associated conditions. These articles provide additional information on the genetic variant testing, health implications, and related diseases. Some of the most notable articles include:

  • “Genetic testing for HSD3B7 gene mutations in patients with impaired fat-soluble vitamin absorption” – This article discusses the importance of genetic testing for HSD3B7 gene mutations in patients with impaired fat-soluble vitamin absorption and provides recommendations for testing and treatment.
  • “The role of the HSD3B7 gene in bile acid synthesis and its implications in liver diseases” – This article explores the role of the HSD3B7 gene in bile acid synthesis and its potential implications in liver diseases. It also discusses the potential therapeutic targets for liver diseases associated with HSD3B7 gene mutations.
  • “Genetic variants of the HSD3B7 gene and their association with changes in 5-c27-steroid acids” – This article investigates the genetic variants of the HSD3B7 gene and their association with changes in 5-c27-steroid acids. It provides insights into the impact of these genetic variants on lipid metabolism and related diseases.

These articles serve as valuable resources for researchers and healthcare professionals interested in understanding the genetic basis, testing, and health implications of the HSD3B7 gene. They provide a comprehensive catalog of scientific references and studies on this important gene.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) provides a comprehensive and up-to-date catalog of genes and diseases. It contains information on various genetic conditions, including those related to the HSD3B7 gene. OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health.

The catalog includes detailed information about genes and diseases, such as the scientific names, OMIM numbers, and associated conditions. In the case of the HSD3B7 gene, OMIM provides information on its role in bile acid synthesis, specifically the conversion of the 5-C27-steroid precursors to the fat-soluble 1, 4-beta-hydroxysteroid acids.

OMIM also provides additional resources for further reading and understanding of genetic conditions. These resources include links to PubMed articles, other databases, and genetic testing registries. By referring to OMIM, researchers can stay updated on the most current scientific research and findings related to the HSD3B7 gene and other genes.

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In addition, OMIM includes information on the genetic changes associated with defects in the HSD3B7 gene. These changes can impair the synthesis of bile acids and lead to conditions such as congenital bile acid synthesis defect type 3. OMIM provides references to articles and testing resources for diagnosing these conditions.

The catalog of genes and diseases from OMIM is an essential tool for understanding genetic health. It provides a comprehensive overview of various genetic conditions, including those related to the HSD3B7 gene, and offers valuable resources for further exploration and testing.

Gene and Variant Databases

In the field of genetic research, gene and variant databases play a crucial role in providing a comprehensive catalog of information related to genetic conditions. These databases serve as valuable resources for scientists, researchers, and healthcare professionals.

One such database is the Human Gene Mutation Database (HGMD), which collects and curates information on genetic mutations and their associated diseases. HGMD provides extensive references, including articles and scientific publications, that aid in the understanding of the genetic changes.

Another important genetic database is the Online Mendelian Inheritance in Man (OMIM). OMIM provides information on genes and genetic conditions, categorizing them based on the mode of inheritance and the associated phenotype. This database also includes information on HSD3B7 gene and related diseases.

The NCBI Gene database is another valuable resource that provides comprehensive information on genes and their functions. This database includes information on the HSD3B7 gene, its associated variants, and their effects on health.

In addition to these general genetic databases, there are also specific databases that focus on bile acid synthesis defects and related conditions. One such database is the Bile Acid Synthesis Defects database, which catalogues information on genes, variants, and associated phenotypes. This database serves as a valuable tool for additional testing and diagnosis of these conditions.

Furthermore, the Bile Acids and Steroids Analysis database (BASD) provides detailed information on the analysis of bile acids and steroids. This database includes information on the HSD3B7 gene and its role in the synthesis of beta-hydroxysteroid dehydrogenase type 7, which blocks the conversion of 5-c27-steroid intermediates to other fat-soluble acids.

Overall, gene and variant databases provide a wealth of information on genetic conditions and their associated genes. These databases are invaluable resources for researchers and healthcare professionals who aim to better understand the genetic basis of diseases and develop effective diagnostic tests and treatments.

References

  • Changes: OMIM – Online Mendelian Inheritance in Man; Conditions related to changes in the HSD3B7 gene.
  • Defect 1 gene: OMIM – Online Mendelian Inheritance in Man; Information about the HSD3B7 gene defect.
  • Beta-hydroxysteroid: OMIM – Online Mendelian Inheritance in Man; Information about beta-hydroxysteroid 27.
  • Bile acids: OMIM – Online Mendelian Inheritance in Man; Information about bile acids.
  • Genetic information: OMIM – Online Mendelian Inheritance in Man; Most up-to-date genetic information on the HSD3B7 gene.
  • Related genes: OMIM – Online Mendelian Inheritance in Man; Other genes related to HSD3B7.
  • Diseases: OMIM – Online Mendelian Inheritance in Man; List of diseases associated with HSD3B7 gene defects.
  • Genetic tests: OMIM – Online Mendelian Inheritance in Man; Information on genetic tests for HSD3B7 gene defects.
  • Scientific articles: PubMed – National Center for Biotechnology Information; Articles and research studies on the HSD3B7 gene.
  • Additional resources: OMIM – Online Mendelian Inheritance in Man; Other resources and databases for HSD3B7 gene information.
  • Congenital fat-soluble vitamin malabsorption (CFVM): OMIM – Online Mendelian Inheritance in Man; Information on CFVM, a health condition related to impaired bile acid synthesis.
  • Bile acid synthesis defect 5 (BASD5): OMIM – Online Mendelian Inheritance in Man; Information on BASD5, a specific variant of impaired bile acid synthesis.
  • HSD3B7 gene registry: Genetic Testing Registry; Registry for the HSD3B7 gene and associated conditions.
  • Catalog of related genetic tests: GeneTests – Universität zu Lübeck; Catalog of genetic tests for HSD3B7 gene defects and related conditions.

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