The CYP21A2 gene plays a crucial role in the production of hormones such as cortisol and aldosterone. Variants in this gene can cause deficiencies in these hormones, leading to a range of health disorders. Scientific research and clinical testing have identified numerous changes in the CYP21A2 gene that can result in functional or nonfunctional enzymes. These enzymes are involved in the synthesis of cortisol, and their deficiency can cause a condition called 21-hydroxylase deficiency.

Testing for variants in the CYP21A2 gene is essential for diagnosing and managing this disorder. Various databases and resources, such as OMIM, PubMed, and related scientific articles, provide additional information and references on the genetic basis of this condition. The CYP21A2 gene is also listed in genetic testing catalogs and disease registries, ensuring that individuals with 21-hydroxylase deficiency can receive proper clinical care.

CYP21A2 is part of a family of cytochrome P450 genes that are involved in the metabolism of hormones and drugs in the body. Other genes in this family can also cause congenital adrenal hyperplasia, a group of conditions related to hormonal imbalances. The CYP21A2 gene, in particular, is one of the primary genes known to cause this disorder, and its variants and nonfunctional enzymes can significantly impact the health of affected individuals.

Understanding the genetic basis of 21-hydroxylase deficiency and other related conditions is crucial for providing accurate diagnoses and developing effective treatment strategies. Research into the CYP21A2 gene and other associated genes continues to uncover new insights into the underlying mechanisms of these disorders. This knowledge serves as a foundation for the development of genetic tests and the improvement of clinical management for people with 21-hydroxylase deficiency and other related conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the CYP21A2 gene can result in various health conditions. The CYP21A2 gene provides instructions for making an enzyme called 21-hydroxylase, which is involved in the production of hormones called cortisol and aldosterone. Changes in this gene can lead to 21-hydroxylase deficiency, a disorder that affects the production of these hormones.

There are several genetic changes or variants in the CYP21A2 gene that can cause 21-hydroxylase deficiency. These changes can range from nonfunctional genes to genes that produce enzymes with reduced or altered function. The severity of the deficiency varies depending on the specific genetic change.

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Individuals with 21-hydroxylase deficiency may experience symptoms related to the lack of cortisol and aldosterone. These symptoms can include salt wasting, dehydration, adrenal crisis, and abnormalities in sexual development.

Testing for genetic changes in the CYP21A2 gene can be done to diagnose 21-hydroxylase deficiency. Genetic testing can identify the specific genetic change causing the deficiency and provide additional information for healthcare professionals to manage the condition.

Healthcare professionals and individuals affected by 21-hydroxylase deficiency can find additional information and resources on this condition from various scientific databases and references. These resources may include articles, databases, registries, and other sources of information on genetic changes and related health conditions.

The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for information on genetic conditions. OMIM provides a catalog of genes and genetic disorders, including 21-hydroxylase deficiency. The OMIM entry for the CYP21A2 gene provides detailed information on the genetic changes, clinical features, testing methods, and management of this condition.

PubMed is another useful resource for finding scientific articles on 21-hydroxylase deficiency and related conditions. PubMed is a database of scientific literature that can provide more in-depth information and research on this topic.

Healthcare professionals may also consult guidelines and recommendations from professional organizations such as the Clinical and Functional Genomics Society (ClinGen) for guidance on testing and management of genetic conditions.

It is important for individuals with 21-hydroxylase deficiency and their families to work closely with healthcare professionals to understand the implications of genetic changes and manage the condition effectively. Genetic testing can provide valuable information for personalized healthcare and treatment plans.

21-hydroxylase deficiency

21-hydroxylase deficiency is a genetic disorder caused by changes in the CYP21A2 gene. This gene provides instructions for making an enzyme called 21-hydroxylase, which is involved in the production of cortisol and aldosterone hormones. The deficiency of this enzyme can result in a nonfunctional or partially functional 21-hydroxylase enzyme, leading to a variety of related conditions.

One of the related conditions is congenital adrenal hyperplasia (CAH), which is characterized by an impaired ability to produce cortisol and aldosterone. CAH can lead to a variety of symptoms and health issues in affected individuals.

Testing for 21-hydroxylase deficiency can be done through genetic testing, and the variant specific to this deficiency can be identified. There are several resources available for more information on this genetic disorder, including scientific databases, articles, and registries.

In addition, other related conditions and diseases are listed in the catalog of the CYP21A2 gene. These conditions may be caused by changes or mutations in other genes or enzymes that interact with the CYP21A2 gene.

For additional information on testing and changes related to 21-hydroxylase deficiency, references can be found in scientific databases such as PubMed and OMIM. These resources provide a wealth of information on the disorder and its impact on the individual’s health.

Clinicians can utilize these resources to stay up-to-date on the latest developments in the field and to guide testing and treatment decisions for people with 21-hydroxylase deficiency and related conditions.

Other Names for This Gene

The CYP21A2 gene, also known as the 21-hydroxylase gene, is associated with a number of health conditions and disorders related to hormonal changes. This gene encodes an enzyme called cytochrome P450 21A2 which is involved in the production of cortisol and aldosterone hormones.

Due to mutations in this gene, individuals may experience deficiency or nonfunctional variants of the CYP21A2 enzyme, resulting in a disorder known as 21-hydroxylase deficiency. This condition can lead to a range of symptoms and health problems.

Other names for the CYP21A2 gene include:

• 21-hydroxylase gene
• CYP21
• Cytochrome P450 21A2
• 21-monooxygenase gene

Medical databases and resources such as OMIM and PubMed list additional names for this gene, as well as references to scientific studies and testing related to CYP21A2. These databases provide valuable information on the genetic changes and functional effects of this gene, as well as its role in various diseases and conditions.

In summary, the CYP21A2 gene, also known by other names such as 21-hydroxylase gene and Cytochrome P450 21A2, is involved in the production of cortisol and aldosterone hormones. Mutations in this gene can lead to 21-hydroxylase deficiency and its associated health problems. Various databases and resources provide comprehensive information on this gene and its role in related disorders.

Additional Information Resources

For more information on the CYP21A2 gene and related genetic diseases:

Resources:

• Online Mendelian Inheritance in Man (OMIM) – provides a catalog of human genes and genetic disorders. The OMIM entry for CYP21A2 gene includes information on diseases associated with mutations in this gene, such as 21-hydroxylase deficiency, hyperplasia, and nonfunctional alleles.
• The Human Gene Mutation Database (HGMD) – a comprehensive database of gene mutations and their effects on human health. It includes information on CYP21A2 variants and their association with different conditions.
• Genetics Home Reference – a resource from the National Library of Medicine that provides consumer-friendly information on genetic conditions and the genes that are associated with them. The CYP21A2 gene page includes information on related disorders and changes in this gene that can cause them.
• ClinVar – a public database that collects information on genetic variants and their clinical significance. It includes information on CYP21A2 gene mutations and their association with various conditions.
• Scientific articles – numerous scientific articles have been published on the CYP21A2 gene and its role in different disorders. These articles provide in-depth information on the functional and nonfunctional variants of this gene and their effects on cortisol and aldosterone hormones.
• Genetic testing laboratories – several laboratories offer genetic testing services for the CYP21A2 gene. These tests can identify mutations in this gene that may be associated with specific conditions.

It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis and appropriate management of genetic disorders related to the CYP21A2 gene.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry is a catalog of genetic tests and related information, such as genes and conditions. It provides a comprehensive list of tests available for various genetic disorders and can be a valuable resource for healthcare professionals and individuals seeking more information about specific genes or conditions.

One of the genes listed in the Genetic Testing Registry is the CYP21A2 gene, which encodes the enzyme 21-hydroxylase. This enzyme plays a crucial role in the production of cortisol and aldosterone hormones. Changes to this gene can cause 21-hydroxylase deficiency, a condition characterized by the impaired production of these hormones.

Testing for CYP21A2 gene variants can help diagnose 21-hydroxylase deficiency and other related conditions. The Genetic Testing Registry provides information on the specific tests available for this gene and the associated genes and enzymes involved in the disorder. It also lists references to scientific articles and databases where additional information can be found.

Individuals with 21-hydroxylase deficiency may experience symptoms such as cortisol and aldosterone deficiencies, resulting in hormonal imbalances and potentially leading to conditions like adrenal hyperplasia. Genetic testing can help identify these individuals and guide appropriate treatment and management strategies.

In addition to the CYP21A2 gene, the Genetic Testing Registry includes information on other genes and variants related to hormonal disorders and other conditions. It serves as a valuable resource for healthcare professionals and researchers looking for up-to-date and comprehensive information on genetic testing for these conditions.

References to scientific articles from databases such as PubMed and resources like OMIM provide functional and clinically relevant information on the CYP21A2 gene and related genes. These references can help healthcare professionals and individuals understand the genetic basis of the disorders, the functional changes that may result from gene variants, and the implications for the health of affected individuals.

In summary, the Genetic Testing Registry provides a catalog of tests and related information on genes and conditions. It is a valuable resource for healthcare professionals, researchers, and individuals seeking information on genetic testing for disorders related to the CYP21A2 gene and other genes involved in hormonal imbalances and related conditions.

Scientific Articles on PubMed

PubMed is a widely used database for accessing scientific articles related to health and genetics. It provides a comprehensive collection of research papers and other literature on various topics, including the CYP21A2 gene and its associated conditions.

The CYP21A2 gene, also known as the 21-hydroxylase gene, is responsible for the production of an important enzyme called cytochrome P450 21-hydroxylase. This enzyme plays a crucial role in the synthesis of hormones such as cortisol and aldosterone.

Deficiency in the CYP21A2 gene can cause changes in the production of these hormones, leading to disorders such as congenital adrenal hyperplasia (CAH). CAH is a group of genetic conditions characterized by cortisol deficiency, aldosterone deficiency, and changes in the production of other hormones.

PubMed provides a valuable resource for researchers and individuals interested in learning more about the CYP21A2 gene and its associated conditions. Through PubMed, one can access scientific articles, clinical reports, genetic testing information, and additional resources related to this gene.

Some of the scientific articles listed on PubMed include:

• “Functional analysis of CYP21A2 variants identified in patients with congenital adrenal hyperplasia” – This article discusses the functional consequences of different CYP21A2 gene variants found in individuals with CAH.
• “CYP21A2 gene mutations in congenital adrenal hyperplasia: clinical and genetic characteristics of affected individuals” – This study explores the clinical and genetic characteristics of individuals with CAH caused by mutations in the CYP21A2 gene.

In addition to scientific articles, PubMed also provides references to other databases and resources that contain information about the CYP21A2 gene and related conditions. These resources can be useful for further research and testing.

By using PubMed, researchers and healthcare professionals can access a wide range of information on the CYP21A2 gene and its role in health and disease. This knowledge can be critical in understanding and managing conditions associated with CYP21A2 gene abnormalities.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides detailed information on genes, their functional changes, and the diseases they cause. One of the genes listed in OMIM is the CYP21A2 gene.

The CYP21A2 gene encodes for the enzyme 21-hydroxylase, which is involved in the production of cortisol and aldosterone hormones. Mutations in this gene can result in a deficiency of the 21-hydroxylase enzyme, leading to conditions such as congenital adrenal hyperplasia (CAH).

In OMIM, the CYP21A2 gene is also known as the cytochrome P450 family 21 subfamily A member 2 gene. It is associated with the disorder 21-hydroxylase deficiency.

OMIM provides additional resources and references for individuals interested in learning more about the CYP21A2 gene and related conditions. These resources include scientific articles, databases, and the OMIM registry.

Information on the CYP21A2 gene can be found in OMIM using its gene symbol or alternate names. OMIM provides a detailed summary of the gene, including its structure, function, and genetic changes associated with the disorder.

To diagnose a 21-hydroxylase deficiency, individuals may undergo genetic tests to identify changes in the CYP21A2 gene. These tests can determine if the gene is functional or nonfunctional, providing important information for diagnosing and managing the condition.

OMIM catalog of genes and diseases is a valuable resource for researchers, healthcare professionals, and individuals interested in understanding genetic disorders like 21-hydroxylase deficiency and its associated conditions.

References to scientific articles and other related resources can be found in OMIM, as well as in PubMed, a comprehensive database of scientific publications.

Gene and Variant Databases

There are several gene and variant databases that provide information about the CYP21A2 gene and its related variants. These databases are listed below:

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information about the CYP21A2 gene and the different variants associated with it.
• ClinVar: ClinVar is a freely accessible database that provides information about genetic variations and their relationship to human health. It includes information about the CYP21A2 gene variants and their clinical significance.
• PubMed: PubMed is a database of scientific articles and references. It includes articles that discuss the CYP21A2 gene and its variants, as well as related conditions and diseases.
• GeneTests: GeneTests is a comprehensive resource for genetic testing information. It provides information about genetic tests for the CYP21A2 gene and related enzymes, as well as the diseases and conditions they can cause.
• 21-Hydroxylase Deficiency Registry: The 21-Hydroxylase Deficiency Registry is a database that collects information about individuals with 21-hydroxylase deficiency, a condition caused by genetic changes in the CYP21A2 gene. It provides valuable information for research and clinical studies.

These databases contain valuable resources for researchers, clinicians, and individuals interested in the CYP21A2 gene and its associated variants. They provide information about the functional and nonfunctional changes in the gene, as well as the resulting changes in cortisol and aldosterone hormones. Additionally, they offer information on related conditions and diseases and the genetic testing options available for these genes.

References

• OMIM (Online Mendelian Inheritance in Man). CYP21A1 cytochrome P450 family 21 subfamily A member 2 [Internet]. Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine; [updated YYYY Mon DD; cited YYYY Mon DD]. Available from: https://omim.org/entry/613815

• GeneCards. CYP21A2 Gene [Internet]. Weizmann Institute of Science; [updated YYYY Mon DD; cited YYYY Mon DD]. Available from: https://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP21A2

• PubMed [Internet]. Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine; [cited YYYY Mon DD]. Available from: https://pubmed.ncbi.nlm.nih.gov/

• Human Gene Mutation Database (HGMD) [Internet]. Cardiff (UK): Cardiff University; [updated YYYY Mon DD; cited YYYY Mon DD]. Available from: http://www.hgmd.cf.ac.uk/

• Online Mendelian Inheritance in Man (OMIM) [Internet]. Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine; [updated YYYY Mon DD; cited YYYY Mon DD]. Available from: https://omim.org/

• ClinVar [Internet]. Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine; [updated YYYY Mon DD; cited YYYY Mon DD]. Available from: https://www.ncbi.nlm.nih.gov/clinvar/

• Genetic Testing Registry (GTR) [Internet]. Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine; [updated YYYY Mon DD; cited YYYY Mon DD]. Available from: https://www.ncbi.nlm.nih.gov/gtr/

• The Hormone Foundation. Congenital Adrenal Hyperplasia [Internet]. Washington, D.C.: The Endocrine Society; [updated YYYY Mon DD; cited YYYY Mon DD]. Available from: https://www.hormone.org/diseases-and-conditions/childhood-and-teen-health/congenital-adrenal-hyperplasia