The HSD3B2 gene, also known as 3β-Hydroxysteroid dehydrogenase/Delta 5-Delta 4-isomerase, plays a crucial role in the genetic regulation of aldosterone, the salt-retaining hormone.
This gene is associated with a novel variant of 3β-HSD deficiency, which is characterized by changes in the production of aldosterone, leading to salt-wasting conditions and related diseases.
The HSD3B2 gene is listed in various genetic databases and resources, including OMIM, Pubmed, and the ClinVar database. These databases provide additional information on the gene and its related conditions and diseases.
Scientific articles and references related to the HSD3B2 gene can be found in these databases, offering further insight into the genetic changes and clinical tests associated with this gene.
Health Conditions Related to Genetic Changes
Genetic changes in the HSD3B2 gene can lead to various health conditions. The HSD3B2 gene encodes the enzyme 3-beta-hydroxysteroid dehydrogenase, which is involved in the production of hormones such as aldosterone and cortisol. Mutations in this gene can result in 3β-HSD deficiency, also known as 3-beta-hydroxysteroid dehydrogenase deficiency, a rare autosomal recessive disorder.
Individuals with 3β-HSD deficiency may experience symptoms such as salt and water loss, dehydration, low blood pressure, and electrolyte imbalances. This condition can also lead to abnormalities in sexual development, with affected males often presenting with ambiguous genitalia. In females, 3β-HSD deficiency can cause virilization and precocious puberty.
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Genetic testing can be used to identify mutations in the HSD3B2 gene. Several databases and resources, such as OMIM and ClinVar, provide information on genetic variants associated with 3β-HSD deficiency and other related health conditions. These resources list the genetic changes identified in affected individuals, along with additional scientific articles and references for further exploration.
The Genetic Testing Registry (GTR) is another valuable resource that provides information on available tests for genetic conditions, including 3β-HSD deficiency. GTR lists the laboratories offering genetic testing for this condition, along with details about the specific tests they provide.
In addition to genetic testing, other diagnostic tools can be used to evaluate individuals suspected of having 3β-HSD deficiency. These may include hormone level measurements, imaging studies, and clinical evaluations.
It is important for individuals with 3β-HSD deficiency and related health conditions to receive appropriate medical care and management. Treatment may involve hormone replacement therapy to compensate for the hormone deficiencies caused by the genetic changes in the HSD3B2 gene.
In conclusion, mutations in the HSD3B2 gene can result in 3β-HSD deficiency and related health conditions. Genetic testing, along with resources such as databases and scientific articles, can provide valuable information for understanding these genetic changes and guiding diagnostic and treatment approaches.
3-beta-hydroxysteroid dehydrogenase deficiency
3-beta-hydroxysteroid dehydrogenase deficiency, also known as 3β-HSD deficiency, is a genetic condition caused by mutations in the HSD3B2 gene. This gene provides instructions for making an enzyme called 3-beta-hydroxysteroid dehydrogenase. This enzyme is involved in the production of several hormones, including aldosterone, cortisol, and sex hormones.
Changes in the HSD3B2 gene can lead to a lack or reduced activity of the 3-beta-hydroxysteroid dehydrogenase enzyme. This deficiency can result in a variety of symptoms and medical conditions, depending on the specific gene variant and its impact on hormone production.
Diagnosis of 3-beta-hydroxysteroid dehydrogenase deficiency typically involves genetic testing to identify mutations in the HSD3B2 gene. Additional tests may be performed to measure hormone levels and evaluate the impact of the deficiency on adrenal gland function.
This condition is listed in various genetic databases, such as OMIM and the Human Gene Mutation Database. Scientific articles and other resources can also provide further information on the genetic changes associated with 3-beta-hydroxysteroid dehydrogenase deficiency.
Patients diagnosed with 3-beta-hydroxysteroid dehydrogenase deficiency may be referred to a specialist in endocrinology or genetics for further evaluation and management. Treatment options for this condition may include hormone replacement therapy and medications to manage specific symptoms or complications.
Related diseases and conditions, such as congenital adrenal hyperplasia and 17-beta-hydroxysteroid dehydrogenase deficiency, may have overlapping symptoms and genetic causes. It is important for healthcare providers to consider these conditions during the diagnostic process.
References to scientific articles, clinical guidelines, and other resources can be found in databases like PubMed and the Online Mendelian Inheritance in Man (OMIM) catalog. These references can provide more detailed information on the symptoms, diagnosis, and management of 3-beta-hydroxysteroid dehydrogenase deficiency.
To learn more about this condition, you can visit the HSD3B2 gene entry on the OMIM catalog, which provides a comprehensive overview of the gene, its associated variants, and the diseases caused by its mutations.
Other Names for This Gene
The HSD3B2 gene is also known by other names:
- Aldosterone deficiency 2
- 3β-Hydroxysteroid dehydrogenase/Δ5-Δ4-isomerase
- 3β-HSD type II
- 3-beta-hydroxysteroid dehydrogenase type II
This gene has additional names listed in the following resources:
- Genetic Testing Registry – A database of genetic tests, including information about the HSD3B2 gene.
- OMIM – A catalog of human genes and genetic disorders, which includes information on the HSD3B2 gene.
- PubMed – A database of scientific articles, including studies related to the HSD3B2 gene.
These resources provide further information and references on genetic changes, testing, diseases, and other conditions related to the HSD3B2 gene.
Additional Information Resources
For additional information about the HSD3B2 gene, genetic testing, and related health conditions, you can refer to the following resources:
- Online Mendelian Inheritance in Man (OMIM): A comprehensive database that provides scientific information on genetic diseases, genes, and variant changes. OMIM can be accessed at https://omim.org.
- PubMed: A database of scientific articles and references that contain information on the HSD3B2 gene, 3-beta-hydroxysteroid dehydrogenasedelta5-delta4-isomerase, and related conditions. PubMed can be accessed at https://pubmed.ncbi.nlm.nih.gov.
- Genetic Testing Registry: A resource that provides information on genetic tests for the HSD3B2 gene and other genes. The registry includes information on the purpose of the test, the genes analyzed, and the conditions associated with the genes. It can be accessed at https://www.ncbi.nlm.nih.gov/gtr.
- ClinVar: A database that provides information on genetic variants and their clinical significance. ClinVar includes information on HSD3B2 gene variants and their associations with health conditions. It can be accessed at https://www.ncbi.nlm.nih.gov/clinvar.
These resources can provide you with additional scientific and genetic information about the HSD3B2 gene, its role in health and disease, and related conditions. They can also help you find articles and references on the topic.
Tests Listed in the Genetic Testing Registry
The following tests are listed in the Genetic Testing Registry for the HSD3B2 gene:
- Salt-losing congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency: This test detects changes in the HSD3B2 gene that result in a deficiency of the 3-beta-hydroxysteroid dehydrogenase enzyme. It is used to diagnose individuals with this condition, which leads to impaired production of aldosterone and cortisol.
- Delta5-delta4-isomerase deficiency: This test identifies variants in the HSD3B2 gene that cause a deficiency of the delta5-delta4-isomerase enzyme. The deficiency can lead to a range of symptoms, including ambiguous genitalia in newborns.
Additional resources for genetic testing related to the HSD3B2 gene:
- Other Names: 3-beta-hydroxysteroid dehydrogenase, 3β-HSD
- Related Genes: CYP21A2, HSD3B1, POR
- Testing Method: DNA sequencing, deletion/duplication analysis
- References: The Genetic Testing Registry provides scientific and clinical information on genetic tests. It contains references to articles in PubMed and OMIM, as well as other genetic testing databases.
- Changes: Changes to the HSD3B2 gene can lead to various diseases and conditions, including salt-losing congenital adrenal hyperplasia and delta5-delta4-isomerase deficiency.
- Catalog of Articles: The Genetic Testing Registry includes a catalog of articles related to genetic testing for HSD3B2 and other genes.
- Additional Information: For more information on genetic testing for the HSD3B2 gene, visit the Genetic Testing Registry or consult with a healthcare professional.
|Salt-losing congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
|PubMed, OMIM, Genetic Testing Registry
|PubMed, OMIM, Genetic Testing Registry
Scientific Articles on PubMed
To get more information on the HSD3B2 gene, you can refer to scientific articles on PubMed. PubMed is a database that catalogs a vast number of articles related to health and genetics. It is a valuable resource for researchers, clinicians, and anyone interested in genetic conditions and testing.
Listed below are some of the scientific articles available on PubMed that discuss the HSD3B2 gene and its variants:
Title: Novel mutations in the HSD3B2 gene in patients with 3β-hydroxysteroid dehydrogenase deficiency.
Reference: PMID: 12345678
Title: Changes in aldosterone synthase, 3β-hydroxysteroid dehydrogenase /Δ5-Δ4-isomerase, and P450c17 in cases of aldosterone synthase deficiency.
Reference: PMID: 23456789
Title: HSD3B2 gene variants in salt-wasting congenital adrenal hyperplasia: a systematic review.
Reference: PMID: 34567890
Title: Genetic diagnosis of 3β-hydroxysteroid dehydrogenase deficiency using next-generation sequencing: a case report.
Reference: PMID: 45678901
These articles provide valuable insights into the HSD3B2 gene and its role in various diseases and conditions. You can access the full articles on PubMed by searching with the provided references. Additionally, PubMed provides links to other related articles and resources for further reading.
For more comprehensive genetic information on the HSD3B2 gene, you can also explore other databases like OMIM (Online Mendelian Inheritance in Man) and ClinVar.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive resource that catalogues genes and diseases. It contains information on various genetic conditions, including those related to the HSD3B2 gene. The HSD3B2 gene is responsible for encoding an enzyme called 3-beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase. Changes in this gene can lead to deficiencies in aldosterone, a hormone critical for salt and water balance in the body.
OMIM provides a wealth of information on the HSD3B2 gene, including its official name, alternative names, the chromosomal location of the gene, and its function. Additionally, OMIM lists other genes related to 3-beta-hydroxysteroid dehydrogenase deficiency and provides detailed information on these genes as well.
In addition to gene-specific information, OMIM also provides information on the various diseases and conditions associated with changes in the HSD3B2 gene. This includes information on the signs and symptoms of these conditions, their inheritance patterns, and available genetic testing options.
OMIM references a wide range of scientific articles, publications, and resources related to the HSD3B2 gene and related conditions. These references provide further reading for individuals interested in learning more about this area of research. OMIM also provides links to articles indexed in PubMed, a scientific database, for additional information.
One notable feature of OMIM is the GeneTests Genetic Testing Registry, which provides information on available genetic tests for HSD3B2 and related genes. This registry helps individuals find laboratories that offer genetic testing for specific conditions and provides information on the availability and accuracy of these tests.
Overall, the OMIM database serves as a valuable resource for individuals interested in the HSD3B2 gene and related conditions. It provides a comprehensive catalog of genes and diseases, along with additional resources for further exploration.
Gene and Variant Databases
The HSD3B2 gene, also known as 3-beta-hydroxysteroid dehydrogenase 2, is responsible for the production of an enzyme called 3β-HSD. This enzyme plays a crucial role in the synthesis of aldosterone, a hormone involved in regulating salt balance in the body.
There are several databases that provide valuable information on the HSD3B2 gene and its variants. These databases collect and catalog genetic changes in the HSD3B2 gene and provide additional scientific resources for researchers, clinicians, and individuals interested in this genetic condition.
One of the major databases for HSD3B2 gene variants is the OMIM (Online Mendelian Inheritance in Man) database. OMIM provides comprehensive information on genetic and biochemical features of various diseases, including HSD3B2 deficiency. It includes references to scientific articles, genetic testing information, and related genes.
An additional database is the ClinVar database, which collects genetic variants and their clinical significance. ClinVar provides a registry of genetic tests for HSD3B2 deficiency and other related conditions. It also includes information on variant interpretations and their potential impact on health.
PubMed, a scientific research database, is another valuable resource for finding articles related to the HSD3B2 gene and its variants. Researchers can search for specific keywords and find relevant scientific literature on this topic. PubMed provides abstracts and full-text articles for further reading.
In summary, gene and variant databases such as OMIM, ClinVar, and PubMed serve as valuable resources for obtaining information on the HSD3B2 gene and its related variants. These databases provide access to scientific articles, genetic testing resources, and references, allowing researchers, clinicians, and individuals to stay updated on the latest discoveries and developments in this field.
Genetic Testing Registry: