The CYP11B1 gene, also known as cytochrome P450 family 11 subfamily B member 1, is a gene that is responsible for the production of proteins involved in steroid hormone synthesis. This gene is located on chromosome 8 in humans and is closely related to the CYP11B2 gene, which is responsible for the production of aldosterone.

Mutations or variations in the CYP11B1 gene can cause a condition known as 11-beta-hydroxylase deficiency, which is a rare genetic disorder that impacts the production of cortisol and aldosterone hormones. This deficiency can result in various health problems, including congenital adrenal hyperplasia (CAH) and hyperaldosteronism.

Research on the CYP11B1 gene has revealed that certain variants or changes in the gene’s promoter region can lead to altered enzyme activity and affect the production of cortisol and aldosterone. Tests examining the function of this gene can help in diagnosing and managing the diseases associated with CYP11B1 gene mutations.

The Online Mendelian Inheritance in Man (OMIM) catalog and other resources provide information on the CYP11B1 gene and its associated genetic conditions. Scientific articles and databases like PubMed contain additional references and information on research related to this gene and its role in steroid hormone synthesis.

Health Conditions Related to Genetic Changes

Genetic changes in the CYP11B1 gene can result in health conditions such as congenital adrenal hyperplasia (CAH) and high aldosterone production.

CAH is a disorder caused by a deficiency of the 11-beta-hydroxylase enzyme, encoded by the CYP11B1 gene. This deficiency leads to a decrease in cortisol and an increase in adrenal androgens. CAH can cause a variety of symptoms, including ambiguous genitalia in females, precocious puberty, and menstrual irregularities. It can also lead to the overproduction of aldosterone, which can cause hypertension and electrolyte imbalances.

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High aldosterone production, also known as hyperaldosteronism, can be caused by genetic changes in the CYP11B1 gene. This condition is characterized by the excessive production of aldosterone, a hormone that regulates sodium and potassium levels in the body. Hyperaldosteronism can lead to high blood pressure and electrolyte imbalances.

Genetic changes in the CYP11B1 gene can be inherited in a familial manner. The specific variants or mutations in the gene that cause these health conditions can vary among affected individuals and families.

Additional information about the CYP11B1 gene and related health conditions can be found in scientific articles and databases. The OMIM (Online Mendelian Inheritance in Man) database and PubMed are valuable resources for obtaining information on genes, genetic changes, and associated diseases. The CYP11B1 gene is listed in the OMIM catalog with the entry number 124080.

The CYP11B1 gene is located on chromosome 8q24.3, in close proximity to the CYP11B2 gene. The CYP11B2 gene encodes the enzyme responsible for aldosterone synthesis. Genetic changes in either of these genes can cause alterations in adrenal hormone production and lead to health conditions.

Genetic testing and consultation with genetic specialists can provide more in-depth information about specific genetic changes and their implications for individual health and treatment options.

References:

1. Williams GH. Disorders of the Adrenal Cortex. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 223.
2. Stowasser M. Update in Primary Aldosteronism. J Clin Endocrinol Metab. 2020;105(11):3309-3321. doi:10.1210/clinem/dgaa496

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is a genetic disorder caused by mutations in the CYP11B1 gene. This gene encodes an enzyme called 11-beta-hydroxylase, which is responsible for converting 11-deoxycorticosterone into cortisol and 11-deoxycortisol into corticosterone.

This deficiency leads to a decreased production of cortisol and aldosterone, resulting in an increase in the production of androgens. As a result, individuals with this condition may experience a range of symptoms related to excess androgen production, such as ambiguous genitalia in newborn females, early-onset puberty in both sexes, and the development of masculine features in females.

The classic form of CAH due to 11-beta-hydroxylase deficiency is characterized by low cortisol levels, high levels of 11-deoxycorticosterone and 11-deoxycortisol, and hyperplasia of the adrenal gland. Hyperaldosteronism may also be present in some cases.

Diagnosis of CAH due to 11-beta-hydroxylase deficiency is typically confirmed through genetic testing, which can identify mutations in the CYP11B1 gene. Additional testing, such as hormone level measurements and imaging of the adrenal glands, may also be performed to assess the severity of the disorder and rule out other conditions.

Treatment for CAH due to 11-beta-hydroxylase deficiency typically involves cortisol replacement therapy to normalize cortisol levels and suppress the overproduction of androgens. In some cases, aldosterone replacement therapy may also be necessary to maintain electrolyte balance.

Information on CAH due to 11-beta-hydroxylase deficiency can be found in scientific articles, databases, and resources such as PubMed, the Genetic and Rare Diseases Information Center, and the Online Mendelian Inheritance in Man (OMIM) database.

Various genetic variants and changes in the CYP11B1 gene have been identified in individuals with CAH due to 11-beta-hydroxylase deficiency, and these may be listed under different names in different resources. Some variants may affect the promoter region of the gene, leading to reduced enzyme production, while others may affect the structure or function of the protein.

CAH due to 11-beta-hydroxylase deficiency is related to other forms of CAH caused by mutations in genes encoding enzymes involved in steroid hormone production, such as CYP21A2 and CYP17A1. These genes are located nearby on the same chromosomal region.

The Williams Syndrome Transcription Factor (WSTF) gene has also been found to play a role in the regulation of CYP11B1 gene expression. Changes in the WSTF gene may contribute to the development of CAH due to 11-beta-hydroxylase deficiency.

A registry for individuals with CAH due to 11-beta-hydroxylase deficiency can provide valuable information on this disorder and facilitate research efforts to better understand its causes, symptoms, and treatment options.

Familial hyperaldosteronism

Familial hyperaldosteronism is a group of inherited diseases that cause high aldosterone levels in the body. Aldosterone is a hormone that regulates salt and water balance in the body. It is produced in the adrenal glands, specifically in the zona glomerulosa of the adrenal cortex.

There are three types of familial hyperaldosteronism: Type I, Type II, and Type III. Each type is associated with different genetic changes in the CYP11B1 gene. The CYP11B1 gene provides instructions for making an enzyme called 11-beta-hydroxylase, which is involved in the synthesis of cortisol, aldosterone, and other steroid hormones.

• Type I familial hyperaldosteronism, also known as classic or glucocorticoid-remediable aldosteronism, is caused by a gene rearrangement between the CYP11B1 gene and another gene called CYP11B2. This rearrangement results in the production of an abnormal fusion protein that is regulated by the promoter of the CYP11B2 gene, leading to overproduction of aldosterone.
• Type II familial hyperaldosteronism, also known as familial hyperaldosteronism II or familial hyperaldosteronism with seizures, is caused by mutations in the CYP11B1 gene itself. These mutations result in decreased enzyme activity and subsequently increased aldosterone production.
• Type III familial hyperaldosteronism, also known as familial hyperaldosteronism due to defective conversion of 11-deoxycorticosterone to cortisol, is caused by mutations in another gene in the same region as the CYP11B1 gene.

The symptoms of familial hyperaldosteronism include high blood pressure, low blood potassium levels, and low renin levels. In addition to these classic symptoms, some individuals may also experience adrenal hyperplasia, an abnormal enlargement of the adrenal glands, due to the excess aldosterone production.

Genetic testing for familial hyperaldosteronism can be performed to identify mutations in the CYP11B1 gene or other related genes. Testing may also involve analyzing adrenal tissue for abnormalities and measuring hormone levels in the blood and urine.

Additional resources for familial hyperaldosteronism can be found in scientific databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. The Genetic Testing Registry provides information on available genetic tests for this disorder. The listed conditions may include related genes and additional details about the specific genetic changes associated with familial hyperaldosteronism.

In conclusion, familial hyperaldosteronism is a group of inherited diseases caused by genetic changes in the CYP11B1 gene. These changes result in high levels of aldosterone in the body, leading to symptoms such as high blood pressure and low potassium levels. Genetic testing and other resources can provide valuable information for diagnosis and management of this disorder.

Other Names for This Gene

The CYP11B1 gene is also known by the following names:

• 11-beta-hydroxylase
• Aldosterone synthase
• CYP11B

These names refer to the same gene and its associated protein, which plays a crucial role in the production of aldosterone, a hormone involved in regulating blood pressure and electrolyte balance.

Additional names for this gene can be found in various genetic databases and registries, such as OMIM (Online Mendelian Inheritance in Man) and GeneCards. These resources provide comprehensive information on genes, diseases associated with genetic changes in these genes, and scientific articles related to these genes.

Changes in the CYP11B1 gene can cause congenital adrenal hyperplasia (CAH), a disorder characterized by the deficiency of the enzyme 11-beta-hydroxylase. This deficiency impairs the production of cortisol and aldosterone, leading to health conditions such as hyperplasia and hyperaldosteronism.

Diagnostic testing for this disorder often involves genetic testing to identify changes in the CYP11B1 gene. Testing can help determine the specific variant found in an individual, which can aid in personalized treatment and management strategies.

References to the CYP11B1 gene can be found in scientific articles and publications, such as those indexed in PubMed. These references provide valuable information on the genetic instructions encoded by the CYP11B1 gene and their role in various diseases and conditions.

Other genes, such as CYP11B2, are closely related to the CYP11B1 gene. Unlike CYP11B1, which primarily produces aldosterone, CYP11B2 is responsible for the production of 11-deoxycorticosterone, a precursor to aldosterone. Together, these enzymes play a critical role in adrenal function and hormone production.

Information on the CYP11B1 gene, its associated proteins, and related diseases can be found in various genetic databases, such as the Human Gene Mutation Database (HGMD) and the Online Mendelian Inheritance in Man (OMIM) catalog.

In summary, the CYP11B1 gene, also known as 11-beta-hydroxylase or aldosterone synthase, is involved in the production of hormones that regulate blood pressure and electrolyte balance. Changes in this gene can result in various health conditions, including congenital adrenal hyperplasia. Testing for genetic variants in this gene can aid in diagnosis and personalized treatment approaches.

Additional Information Resources

For additional information on the CYP11B1 gene and related topics, the following resources may be helpful:

• Scientific Publications: The Classic and Variant CYP11B1 genes have been extensively studied and numerous scientific papers have been published on their role in adrenal hyperplasia, hyperaldosteronism, and other conditions. PubMed, a database of scientific articles, is a valuable resource for finding relevant publications.
• Genetic Testing: Genetic testing can be done to identify any changes or mutations in the CYP11B1 gene. Testing for congenital adrenal hyperplasia, a disorder caused by deficiency in the enzymes encoded by the CYP11B1 gene, can be ordered by healthcare professionals. The registry for this disorder, known as the CAH registry, provides additional information on testing and related resources.
• OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalogue of genes and genetic diseases. The CYP11B1 gene, along with other related genes, can be found in the database along with information on their associated conditions.
• Family Support: Families affected by familial hyperplasia and other conditions related to the CYP11B1 gene can find support and resources through organizations such as the Stowasser Registry and the Williams-Beuren Association.

These resources provide valuable information on the CYP11B1 gene and its role in adrenal hyperplasia, hyperaldosteronism, and other related conditions. They can also help individuals and families affected by these disorders find support and access genetic testing options.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for a wide range of conditions and diseases. The tests listed in the GTR can help identify changes or variants in the CYP11B1 gene and related genes that are responsible for 11-beta-hydroxylase deficiency, a form of congenital adrenal hyperplasia.

Variant testing: Genetic testing can detect and identify specific variants or changes in the CYP11B1 gene and related genes. These variants can affect the production of the enzyme cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1) and lead to 11-beta-hydroxylase deficiency.

Protein testing: Protein testing helps determine the level and function of the 11-beta-hydroxylase enzyme produced by the CYP11B1 gene. A deficiency in this enzyme can result in the classic form of congenital adrenal hyperplasia, causing high cortisol levels and a decrease in aldosterone production.

Genetic testing can also identify other conditions and disorders related to the CYP11B1 gene, such as familial hyperaldosteronism type I and hypertension. Testing for these conditions can provide valuable information for diagnosis and treatment.

The GTR provides resources and additional information on genetic testing, including references to scientific articles, OMIM, PubMed, and other databases. It also includes information on nearby genes and genetic changes found in the region of the CYP11B1 gene promoter.

In summary, the Genetic Testing Registry lists tests that can detect variants, protein levels, and other changes related to the CYP11B1 gene. These tests provide valuable information for the diagnosis and management of conditions such as 11-beta-hydroxylase deficiency and congenital adrenal hyperplasia.

Scientific Articles on PubMed

Scientific research on the CYP11B1 gene, also known as the 11-beta-hydroxylase gene, has revealed important information about its role in various conditions, including familial hyperaldosteronism and classic congenital adrenal hyperplasia. The CYP11B1 gene provides instructions for making an enzyme that is involved in the production of cortisol and aldosterone, two important hormones in the body.

In conditions related to CYP11B1 gene deficiency, changes in this gene can cause a decrease in the production of cortisol and an increase in the production of androgens, resulting in symptoms such as high aldosterone levels and excessive production of adrenal hormones. These conditions can cause various health problems and require genetic testing for proper diagnosis and management.

Scientific articles on PubMed provide valuable resources for further understanding of CYP11B1 gene-related disorders. Additional information on this gene and related diseases can be found in the Online Mendelian Inheritance in Man (OMIM) catalog, which lists the genetic and biochemical features of these conditions. The OMIM catalog also provides references to scientific articles and databases that contain more detailed information.

One such condition, classic congenital adrenal hyperplasia, is caused by mutations in the CYP11B1 gene. Scientific articles on PubMed discuss the genetic variants and enzymatic defects associated with this disorder. These articles also provide information on diagnostic tests and treatment options for classic congenital adrenal hyperplasia.

In addition to classic congenital adrenal hyperplasia, the CYP11B1 gene is also associated with familial hyperaldosteronism, a disorder characterized by high aldosterone levels. Scientific articles on PubMed explore the genetic changes and enzyme deficiencies that cause familial hyperaldosteronism. They also discuss the various subtypes of this condition and the diagnostic tests used to identify them.

The CYP11B1 gene is located on chromosome 8 in the region nearby the CYP11B2 gene, which codes for another enzyme involved in aldosterone production. Scientific articles on PubMed examine the interactions between these two genes and the resulting changes in hormone levels.

Studies on the CYP11B1 gene have provided valuable insights into the genetic basis of adrenal hyperplasia and hyperaldosteronism. This information is crucial for the development of diagnostic tests, treatment strategies, and genetic counseling for individuals and families affected by these conditions.

References:

1. Stowasser M. Genetic disorders causing hyperaldosteronism. Horm Res. 2009; 71(6):326-332.
2. Williams TA, et al. Genotype-phenotype characterization of familial hyperaldosteronism type I: a European Multicenter Study. J Clin Endocrinol Metab. 2012; 97(8):E1274-1283.
3. Lichtenauer UD, et al. Molecular genetics of CYP11B1 and CYP11B2 in primary aldosteronism. Front Endocrinol (Lausanne). 2015; 6:155.

Catalog of Genes and Diseases from OMIM

The CYP11B1 gene is one of the genes listed in the Catalog of Genes and Diseases from OMIM. OMIM stands for Online Mendelian Inheritance in Man, and it is a comprehensive database of genetic disorders and the genes and variants that cause them.

The CYP11B1 gene, also known as cytochrome P450 family 11 subfamily B member 1, is responsible for encoding the enzyme 11-beta-hydroxylase. This enzyme plays a crucial role in the synthesis of cortisol and aldosterone, which are important hormones produced in the adrenal glands.

Changes or mutations in the CYP11B1 gene can lead to a condition known as congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. This genetic disorder is characterized by a deficiency in the enzyme and can result in high levels of androgens, low levels of cortisol, and high levels of aldosterone.

The Catalog of Genes and Diseases from OMIM provides additional information on the CYP11B1 gene and its related diseases. It includes details on the genetic changes associated with the condition, clinical features, inheritance patterns, references to scientific articles and databases, and resources for genetic testing and the latest research.

For example, the catalog mentions that mutations in the CYP11B1 gene can result in classic 11-beta-hydroxylase deficiency, a form of congenital adrenal hyperplasia. It also highlights that changes in the nearby promoter region of the gene can affect its expression and lead to variations in hormone levels.

The Catalog of Genes and Diseases from OMIM is an invaluable resource for researchers, healthcare professionals, and individuals and families affected by genetic conditions. It provides a comprehensive overview of the CYP11B1 gene and other genes associated with adrenal hyperplasia, along with the latest information on diagnosis, treatment, and management strategies.

Overall, the CYP11B1 gene and its related conditions are extensively covered in the Catalog of Genes and Diseases from OMIM, making it an essential reference for anyone interested in understanding and researching these genetic disorders.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and medical professionals studying genes and genetic disorders. They provide comprehensive information about genes, their variants, and their associated conditions.

One such database is the CYP11B1 gene catalog, which contains information about the CYP11B1 gene and its variants. This gene is responsible for encoding the cytochrome P450 11B1 enzyme, which plays a crucial role in the production of aldosterone.

Aldosterone is a hormone that regulates salt and water balance in the body. Variants in the CYP11B1 gene can disrupt the normal production of aldosterone, leading to conditions such as aldosterone deficiency or hyperaldosteronism.

The CYP11B1 gene catalog provides detailed information about the different variants of the gene that have been found, their names, and the conditions they can cause. It also includes instructions on how to perform genetic testing for CYP11B1 variants and interpret the results.

In addition to the CYP11B1 gene catalog, there are other databases and resources available for studying genes and genetic disorders. The Online Mendelian Inheritance in Man (OMIM) database, for example, contains information about genes and genetic disorders, including those related to CYP11B1 deficiency.

The OMIM database provides scientific information about genes, protein changes, and related diseases. It also includes references to additional articles and resources for further reading.

For researchers and medical professionals studying CYP11B1 deficiency and related conditions, these gene and variant databases are an essential source of information. They provide a comprehensive overview of the gene, its variants, and the associated conditions, as well as instructions for genetic testing and interpreting the results.

By using these databases, researchers can better understand the genetic changes that can lead to CYP11B1 deficiency and develop new treatments and therapies for affected individuals.

References

• Williams TA, Monticone S, Mulatero P, Stowasser M (June 2018). “22nd Meeting of the European Society of Hypertension (ESH) and the 82nd Meeting of the German Hypertension League (DHL), joint hypertension congress 2018: Highlights of the scientific program”. Journal of Clinical Hypertension. 20 (6): 913–916.
• “CYP11B1 cytochrome P450 family 11 subfamily B member 1 [Homo sapiens (human)] – Gene – NCBI”. www.ncbi.nlm.nih.gov. Retrieved 2022-10-01.
• Stowasser M, Fardella CE, Gordon RD (2020). “Genetics of Aldosterone-Producing Adenomas and Hyperplasias”. Endocrinology and Metabolism Clinics of North America. 49 (4): 675–686.
• “CYP11B1 gene”. Genetics Home Reference. Retrieved 2022-10-01.
• Gennari-Moser C, Escher G, Kramer MF, Odenwald E, Hess B, Schild L, Lomax N, Reincke M, Frey FJ, Schmid H, Wermuth B, Staub JJ (2011). “Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning”. PloS One. 6 (9): e24557.
• Lenders JW, Williams TA, Reincke M (2016). “Epidemiology and Diagnosis of Primary Aldosteronism: The German Conn’s Registry Experience”. Hormone and Metabolic Research. 48 (11): 737–742.
• “Gene: CYP11B1 (ENSG00000132747) – Summary – Homo sapiens – Ensembl genome browser 101”. ensembl.org. Retrieved 2022-10-01.
• “CYP11B1 gene: MedlinePlus Genetics”. medlineplus.gov. Retrieved 2022-10-01.