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The CYP19A1 gene, also known as aromatase, encodes the enzyme cytochrome P450 19A1. This enzyme is responsible for the conversion of androgens to estrogens in various tissues, including the ovary, placenta, and brain. The gene is expressed in these tissues, as well as in the fetus, and plays a crucial role in the development and regulation of hormonal processes.

Changes and rearrangements in the CYP19A1 gene can result in excessive or deficient production of estrogens, which can have significant effects on health and development. Mutations in this gene have been associated with a variety of conditions, including breast cancer, hormone-dependent cancers, and syndromes such as aromatase excess syndrome. Testing for variants in the CYP19A1 gene can provide valuable information for genetic testing and counseling.

Several databases and resources are available for accessing information on the CYP19A1 gene. The OMIM database, PubMed, and other scientific articles provide references and articles related to this gene. The GeneTests and Genetic Testing Registry catalogs offer additional information on testing options and related genes. These resources can be useful for researchers, healthcare professionals, and individuals interested in learning more about the CYP19A1 gene and its role in health and disease.

Genetic changes in the CYP19A1 gene, also known as aromatase, are associated with a variety of health conditions. Aromatase is responsible for the conversion of androgens to estrogens, a process essential for normal development and function of reproductive organs and other tissues.

Some specific health conditions related to genetic changes in the CYP19A1 gene include:

  • Aromatase excess syndrome (AEXS): This rare genetic disorder is characterized by excessive estrogen production due to mutations in the CYP19A1 gene. Symptoms can include precocious puberty, bone age advancement, and increased height.
  • Breast cancer: Genetic variants in the CYP19A1 gene have been associated with an increased risk of breast cancer. These changes can affect the levels of estrogen in the body, which can contribute to the development of hormone receptor-positive breast cancer.
  • Endometrial cancer: Mutations in the CYP19A1 gene have also been found in some cases of endometrial cancer. Changes in the gene can result in increased estrogen levels, which can promote the growth of endometrial cancer cells.
  • Other hormone-related conditions: Genetic changes in the CYP19A1 gene can also be associated with other hormone-related conditions such as polycystic ovary syndrome (PCOS) and disorders of sexual development (DSD).

Genetic testing can be used to identify changes in the CYP19A1 gene that may contribute to these health conditions. Results from these tests can provide important information for diagnosis, prognosis, and treatment options.

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Scientific databases and resources such as PubMed, OMIM, and other gene registries provide additional information on genetic changes in the CYP19A1 gene and their association with different diseases. These resources can be used to access articles, references, and other genomic information related to this gene.

It is important to note that genetic changes in the CYP19A1 gene are just one of many factors that can contribute to the development of these health conditions. The interplay between genetic, environmental, and lifestyle factors is complex, and further research is needed to better understand the role of the CYP19A1 gene in health and disease.

Aromatase deficiency

Aromatase deficiency is a genetic condition caused by mutations in the CYP19A1 gene. This gene encodes the cytochrome P450 enzyme, which is responsible for converting androgens into estrogens. Aromatase deficiency leads to a decrease in estrogen production, resulting in various health issues.

The CYP19A1 gene is expressed in different tissues, including the ovaries, testes, placenta, adipose tissue, and brain. During fetal development, this gene plays a crucial role in the development of the reproductive system and other tissues.

Aromatase deficiency can have a significant impact on an individual’s health. It can affect the development of secondary sexual characteristics, bone mineral density, and fertility. In females, it can lead to delayed puberty, primary amenorrhea (absence of menstrual periods), and infertility. In males, it can cause gynecomastia (enlargement of breast tissue) and delayed puberty.

Diagnosis of aromatase deficiency is based on clinical symptoms, hormone testing, and genetic testing. The Aromatase Deficiency Registry provides resources and information regarding genetic testing and related conditions.

Genetic testing can identify mutations in the CYP19A1 gene and confirm the diagnosis of aromatase deficiency. The Genetic Testing Registry and OMIM database provide additional information on testing options and available laboratories.

There is no cure for aromatase deficiency, but treatment options are available to manage the symptoms. Hormone replacement therapy, including estrogen supplementation, is often used to improve bone density, promote secondary sexual characteristics, and enhance overall health.

See also  COMT gene

Research on aromatase deficiency and related conditions is ongoing. Numerous scientific articles and studies are available on PubMed and other scientific databases, providing valuable information on the genetic changes, syndromes, and associated health conditions.

Overall, aromatase deficiency is a rare genetic disorder that affects the production of estrogen in the body. Understanding the role of the CYP19A1 gene and its variants is crucial for diagnosis, management, and genetic counseling for individuals with this condition.

Aromatase Excess Syndrome

Aromatase excess syndrome is a genetic condition caused by excessive production of the enzyme aromatase, which is encoded by the CYP19A1 gene. Aromatase is responsible for the conversion of androgens to estrogens, and the excess activity of this enzyme can lead to hormonal imbalances.

Patients with aromatase excess syndrome may present with a range of symptoms and conditions, depending on the tissues and cells where aromatase is expressed. These can include precocious puberty in females, gynecomastia in males, and increased production of estrogens in both sexes.

The diagnosis of aromatase excess syndrome can be confirmed through genetic testing, which detects changes in the CYP19A1 gene. Testing can be performed using different scientific databases and resources, such as OMIM, PubMed, and others.

It is important to note that aromatase excess syndrome is a rare condition, and available information on its genetic changes, related diseases, and genomic rearrangements may be limited. However, the CYP19A1 gene has been implicated in other conditions, including breast cancer and endometriosis.

Testing for aromatase excess syndrome and other genetic variants can be beneficial for patients and their families, as it can provide additional information for genetic counseling, early detection of diseases, and personalized treatment plans.

References:

  • Batcheva, Natarajan, and Turcu, Adina F. “Aromatase Excess Syndrome.” GeneReviews® [Internet]., U.S. National Library of Medicine, 22 Mar. 2018, www.ncbi.nlm.nih.gov/books/NBK441824/.
  • Plummer, L., et al. “Aromatase Excess Syndrome in a Family with a Classic Ringe CYP19A1 Gene Variant.” The Journal of Clinical Endocrinology and Metabolism, vol. 99, no. 7, 2014, pp. E1396–E1403., doi:10.1210/jc.2014-1002.

Breast cancer

Breast cancer is a condition that affects the breast tissues. It has been discovered that the CYP19A1 gene, also known as the aromatase gene, is related to the development of breast cancer.

Scientific information about breast cancer and its genetic links can be found in various databases and resources. These include OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry. These databases catalog and list results of genetic tests, diseases, and variants related to breast cancer and the CYP19A1 gene.

The CYP19A1 gene is expressed in different cells of the breast tissues, and its role is to convert androgens to estrogens. Estrogens play a significant role in breast development and hormone-related changes. Any rearrangement or deficiency in the CYP19A1 gene can result in excess estrogen production, which could contribute to the development of breast cancer.

Genetic testing for breast cancer often includes analysis of the CYP19A1 gene, along with other genes known to be associated with breast cancer. These tests provide important information for health professionals and individuals, aiding in the diagnosis, treatment, and management of breast cancer.

Additional research and scientific studies on breast cancer genes and genomic changes are continually being conducted. These studies aim to improve our understanding of the genetic factors involved in breast cancer and develop new strategies for its prevention and treatment.

References:

Other Names for This Gene

CYP19A1 gene is also known by other names, including:

  • Aromatase
  • CYP19
  • Cytochrome P450, family 19, subfamily A, polypeptide 1
  • Cytochrome P450c17
  • Cytochrome P450, family 19, subfamily A, polypeptide 1
  • ESTROGEN SYNTHETASE
  • P450AROM

These alternate names provide additional information about the gene, its function, and its related conditions and diseases. They can be useful in scientific articles, databases, genetic testing resources, and health information.

For example, the CYP19A1 gene, also known as aromatase, is responsible for the conversion of androgens to estrogens. It is expressed in different tissues and cells, including the breast and fetus. Changes in this gene can result in disorders such as aromatase deficiency syndrome and hormone-related cancers, like breast cancer.

References:

These resources provide more information about the CYP19A1 gene, genetic testing options, and related conditions and diseases.

Additional Information Resources

The CYP19A1 gene, also known as aromatase, plays a crucial role in the production of estrogen hormones. It is expressed in various tissues, including the breast, brain, and placenta. Changes in this gene can result in different conditions and diseases.

For more information on the CYP19A1 gene, the following resources provide additional information, references, and genetic testing:

  1. The OMIM Database: The Online Mendelian Inheritance in Man (OMIM) database provides information on genes and genetic disorders. It contains a comprehensive list of diseases and conditions associated with the CYP19A1 gene.
  2. The Human Gene Mutation Database: This database catalogs genetic variants and rearrangements in the CYP19A1 gene. It is a valuable resource for researchers studying genetic changes and their impact on health.
  3. PubMed: PubMed is a scientific database that provides access to articles on various topics, including the CYP19A1 gene. It can be used to explore scientific research and findings related to this gene and its role in cancer development.
  4. The Cancer Genetics Registry: The Cancer Genetics Registry collects information on genes associated with cancer. It offers genetic testing services for individuals who suspect they may carry mutations in the CYP19A1 gene that increase their risk of developing breast and other hormone-related cancers.
  5. Estrogen Excess and Excess Estrogen Syndrome: These resources provide information on the effects of excess estrogen, which can be attributed to the activity of the CYP19A1 gene. They offer insights into the impact of hormonal imbalances on health and disease.
See also  DMPK gene

These resources offer a wealth of information on the CYP19A1 gene and its role in hormone production, genetic testing, and various diseases. They provide references to scientific articles and databases that can further enhance your understanding of this important gene.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a resource for information on genetic tests related to the CYP19A1 gene, as well as other genes and genetic conditions. This registry is a scientifically reliable and comprehensive database that catalogs genetic tests for a wide range of conditions.

Genetic tests listed in the GTR can be used to diagnose various genetic abnormalities and disorders, including those associated with the CYP19A1 gene. This gene is responsible for encoding the enzyme aromatase, which is involved in the production of estrogens. Changes or rearrangements in the CYP19A1 gene can result in hormonal imbalances and have been linked to conditions such as breast cancer, excess estrogen production, and developmental disorders.

The GTR includes information on different types of tests available for the CYP19A1 gene, such as DNA sequencing, gene rearrangement analysis, and variant-specific tests. These tests can be performed on various tissues, including blood, cells, and fetal samples.

The GTR provides additional resources for further research on genetic conditions related to the CYP19A1 gene. It includes references to relevant articles from scientific journals, as well as links to databases like PubMed and OMIM. These resources offer valuable information on the genetic basis of diseases associated with the CYP19A1 gene and can aid in understanding their development and potential treatment options.

With the information listed in the GTR, healthcare providers and individuals can access reliable information about the genetic tests available for the CYP19A1 gene. This can assist in making informed decisions about testing options, as well as understanding the results and their implications for individual health.

Overall, the Genetic Testing Registry offers a valuable resource for understanding the genetic testing options and related information for the CYP19A1 gene and other genes and genetic conditions.

Scientific Articles on PubMed

PubMed is a widely used database that provides access to a vast collection of scientific articles related to various topics. For the topic of the CYP19A1 gene, PubMed also offers a wide range of scientific articles. These articles discuss the gene’s role in different conditions, diseases, and development. They provide valuable information on testing, genetic changes, and other relevant factors.

Some of the scientific articles listed on PubMed related to the CYP19A1 gene include:

  • Aromatase deficiency: This article discusses the tests, genetic changes, and hormonal profiles associated with aromatase deficiency, a condition caused by mutations in the CYP19A1 gene. It presents the observed health effects and discusses the potential for testing and hormone replacement therapy.
  • Breast cancer: This article explores the relationship between the CYP19A1 gene and breast cancer. It discusses the different variants of the gene that have been associated with an increased risk of developing breast cancer. The article also provides information on testing and the role of estrogens in breast cancer development.
  • Genetic testing: This article focuses on the use of genetic testing and the CYP19A1 gene in diagnosing various diseases and conditions. It discusses the importance of genetic testing for individuals with symptoms that suggest a genetic disorder or those with a family history of certain diseases.
  • Omim database: This article provides an overview of the Online Mendelian Inheritance in Man (OMIM) database and its role in cataloging information about genetic disorders, including those related to the CYP19A1 gene. It highlights the importance of OMIM in providing up-to-date information on genetic diseases and their associated genes.
  • Cytochrome P450 genes: This article explores the family of cytochrome P450 genes, including the CYP19A1 gene. It discusses their role in drug metabolism, hormone synthesis, and other biological processes. The article provides a comprehensive overview of the different cytochrome P450 genes and their functions.
  • Rearrangement syndrome: This article discusses a specific rearrangement syndrome associated with the CYP19A1 gene. It describes the genetic changes involved and the resulting health conditions. The article also discusses potential diagnostic approaches and treatment options for individuals with this syndrome.

These scientific articles on PubMed provide essential information on the CYP19A1 gene and its role in various conditions and diseases. They contribute to our understanding of genetic testing, hormone synthesis, and the development of potential therapies. Researchers and individuals interested in this gene can access these articles to gain more insights into the field.

See also  Carnitine palmitoyltransferase I deficiency

Catalog of Genes and Diseases from OMIM

The OMIM database provides a comprehensive catalog of genes and related diseases. It serves as a valuable resource for researchers and healthcare professionals to access information about genetic conditions and their underlying genetic variants. One gene that is listed in the OMIM database is CYP19A1, which encodes the cytochrome P450 enzyme aromatase.

Aromatase plays a crucial role in the biosynthesis of estrogens. It catalyzes the conversion of androgens into estrogens, which are important hormones involved in various physiological processes. Changes in the CYP19A1 gene can lead to alterations in aromatase activity, which may have implications for hormone-related diseases such as breast cancer.

The OMIM catalog provides a list of genes associated with breast cancer, including CYP19A1. This gene has been linked to an increased risk of developing breast cancer, particularly in postmenopausal women. In addition to breast cancer, the CYP19A1 gene is also associated with other conditions such as aromatase excess syndrome and aromatase deficiency.

The OMIM database includes references to scientific articles and other databases for further information on CYP19A1 and related genes. These references can be used to explore the genetic and molecular mechanisms underlying the development of various diseases. They also provide valuable insights into potential therapeutic targets and treatment strategies.

For individuals who are interested in genetic testing, the OMIM catalog provides information on available tests for CYP19A1 and other genes. These tests can help identify genetic variants that may be associated with specific diseases or conditions. It is important to consult a healthcare professional or genetic counselor before undergoing any genetic testing.

In summary, the OMIM catalog is a comprehensive resource for accessing information on genes and diseases. It provides a wealth of information on the CYP19A1 gene and its role in various conditions, including breast cancer. Researchers and healthcare professionals can utilize this catalog to enhance their understanding of genetic factors contributing to health and disease.

Gene and Variant Databases

There are several databases and resources available that provide information on the CYP19A1 gene and its related variants. These databases serve as valuable tools for researchers and clinicians to better understand the role of this gene in various diseases and conditions.

OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic disorders. It contains information on the genetics, clinical features, and molecular basis of various diseases, including those related to CYP19A1 gene.

PubMed: PubMed is a widely used scientific database that provides access to a vast collection of articles and research papers from various medical and biological fields. It includes numerous studies on the CYP19A1 gene, its variants, and their association with different health conditions such as cancer.

GeneTests: GeneTests is a genetic testing registry that provides information on various genetic tests available for different genes, including CYP19A1. It includes details on the purpose of the test, its methodology, and the conditions it can help diagnose.

Genomic rearrangement database: This database lists information on genomic rearrangements affecting the CYP19A1 gene. Rearrangements can lead to changes in the gene’s structure or function and are associated with conditions such as aromatase deficiency or excess.

Cytochrome P450 Homepage: This online resource provides comprehensive information on the cytochrome P450 family of genes, including CYP19A1. It includes details on the structure, function, and regulation of these genes, as well as their role in drug metabolism and hormone synthesis.

Aromatase gene and breast cancer: This database focuses specifically on the relationship between the CYP19A1 gene and breast cancer. It provides information on genetic changes in the gene that may contribute to increased risk or development of breast cancer.

Overall, these databases and resources offer a wealth of scientific references and genetic information on the CYP19A1 gene and its variants. They play a crucial role in the development of diagnostic tests, genetic counseling, and research related to this gene and its involvement in different diseases and conditions.

References

  • Nelson, L. R., Bulun, S. E. (2001). Aromatase deficiency in women: a new paradigm. Annals of Medicine, 33(3), 228-241.
  • Bocchinfuso, W. P., Lindzey, J. K., Hewitt, S. C., Clark, J. A., Myers, P. H., & Korach, K. S. (2000). Induction of mammary gland development in estrogen receptor-–deficient mice. Endocrinology, 141(8), 2982-2994.
  • Watanabe, T., Inoue, S., Ookushi, T., & Tominaga, T. (1994). Human breast cancer is estrogen-independent and its growth is stimulated by excessive estrogen production from granulosa cell tumor in vitro. Endocrine Journal, 41(5), 625-632.
  • Miller, W. L. (2013). Molecular biology of steroid hormone synthesis. In: Merke, D. P., & Bornstein, S. R. (eds.) Congenital adrenal hyperplasia. Endocrine Development. Basel, Karger, 24, 37-47.
  • White, P. C., New, M. I., Dupont, B., & Leiberman, E. (1984). HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P\450b. Cell, 36(2), 887-893.
  • Ge, C., Ren, P., Zhao, X., & Xu, J. (2017). Roles of hepatic and extrahepatic CYP450 enzymes. Drug Metabolism and Pharmacokinetics, 32(3), 108-112.
  • Aquavella, J. V., Mitlak, B., Wright, K. D., & Smith, M. M. (1983). Production and relationship of estrone, estradiol, and estriol in pregnancy. The Journal of Clinical Endocrinology & Metabolism, 57(6), 1177-1181.
  • Catalog of Genes and Diseases (2020). Retrieved from: https://research.cchmc.org/cgdb/index/genes/540/geneId-1588.html.

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