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The SRD5A2 gene is a key player in the development of various conditions and disorders. It is involved in the production of enzymes that play a crucial role in the metabolism of steroid hormones.

Scientific studies have shown that changes or mutations in the SRD5A2 gene can lead to a variety of health issues. One such condition is Wilson disease, a genetic disorder characterized by abnormal copper metabolism in the body. Another significant finding is the link between SRD5A2 gene mutations and certain types of cancer, such as prostate and ovary cancer.

The SRD5A2 gene is listed in the OMIM (Online Mendelian Inheritance in Man) catalog, which provides comprehensive information on genetic conditions and related genes. It is also mentioned in various scientific articles and references, making it a subject of interest for researchers and healthcare professionals.

Genetic testing for SRD5A2 gene variants can be crucial in diagnosing and managing certain disorders. For instance, testing for SRD5A2 gene mutations is often performed in cases of 5-alpha-reductase deficiency, a condition that affects the development of male genitalia during fetal growth. Testing for SRD5A2 gene variants can also help in assessing the risk of developing prostate cancer and other related diseases.

Studies have clearly shown that the SRD5A2 gene plays a significant role in the growth and development of various organs and tissues, including the prostate, urethra, and ovaries in women. Inhibition of the 5-alpha-reductase enzymes encoded by this gene can alter the normal metabolism of steroid hormones and lead to conditions such as hirsutism in women.

Additional resources related to the SRD5A2 gene can be found in various scientific databases, such as PubMed and the Genetic Testing Registry. These resources provide access to further research and information on the role of the SRD5A2 gene in different diseases and conditions.

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The SRD5A2 gene, also known as the 5-alpha-reductase gene, plays a crucial role in the metabolism of steroid hormones. Genetic changes in this gene can lead to various health conditions. Here are some of the health conditions related to genetic changes in the SRD5A2 gene:

  • Hirsutism: Genetic changes in the SRD5A2 gene can cause hirsutism, which is excessive hair growth in women. The excessive production of androgens due to genetic variations in this gene can lead to the development of this condition.
  • Cancer: Certain genetic changes in the SRD5A2 gene have been associated with an increased risk of prostate cancer. Studies have shown that specific variants of this gene may contribute to the development of prostate cancer.
  • Development of female genitalia: Genetic changes in the SRD5A2 gene can result in the development of female external genitalia in individuals with a 5-alpha-reductase deficiency. This condition is also known as male pseudohermaphroditism.
  • Puberty disorders: Genetic changes in the SRD5A2 gene may cause disruptions in the normal hormonal patterns during puberty, leading to delayed or precocious puberty.
  • Polycystic ovary syndrome: Some studies suggest that genetic variations in the SRD5A2 gene may influence the risk of developing polycystic ovary syndrome (PCOS), a common endocrine disorder in women. However, the exact role of these genetic changes in PCOS development is not yet fully understood.

For more information on these and other health conditions related to genetic changes in the SRD5A2 gene, refer to resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, scientific articles in PubMed, and genetic testing databases.

5-alpha reductase deficiency

5-alpha reductase deficiency is a genetic condition caused by mutations in the SRD5A2 gene. The SRD5A2 gene provides instructions for making an enzyme called 5-alpha reductase. This enzyme plays a key role in the metabolism of steroid hormones.

Individuals with 5-alpha reductase deficiency have a reduced ability to convert testosterone to dihydrotestosterone (DHT), which is a more potent androgen. This results in incomplete masculinization of the external genitalia in males. It can also lead to other symptoms, such as delayed growth and puberty, ambiguous genitalia, and fertility problems in both males and females.

Diagnosis of 5-alpha reductase deficiency typically involves genetic testing to identify changes or mutations in the SRD5A2 gene. Additional tests, such as hormone analysis and imaging studies, may also be performed to assess the levels of hormones and the anatomy of the genitalia.

The International 5-alpha Reductase Deficiency Registry provides resources and information for individuals and families affected by this condition. It lists scientific articles, databases, and references related to 5-alpha reductase deficiency, as well as other genetic conditions and genes associated with disorders of sex development.

See also  Celiac disease

There is ongoing research on developing tests for other genes involved in the metabolism of steroid hormones. These tests could help identify individuals at risk for 5-alpha reductase deficiency and other related disorders.

It is important to note that 5-alpha reductase deficiency is a rare condition, and its associations with other diseases and conditions are not clearly defined. Further studies and scientific investigations are needed to better understand the role of SRD5A2 gene changes and their impact on health.

For more information on 5-alpha reductase deficiency, you can refer to the following resources:

  • The International 5-alpha Reductase Deficiency Registry
  • PubMed – a database of scientific articles
  • OMIM – Online Mendelian Inheritance in Man, a catalog of human genes and genetic disorders

These resources can provide additional information on the genetic and metabolic aspects of 5-alpha reductase deficiency, as well as related conditions and research on this topic.

Prostate cancer

Prostate cancer is a common type of cancer that affects the prostate, a small gland in the male reproductive system. It is one of the most common cancers in men and is typically diagnosed through testing for prostate-specific antigen (PSA) levels.

There is clearly a link between the SRD5A2 gene and prostate cancer. The SRD5A2 gene codes for the enzyme 5-alpha reductase, which plays a role in the normal growth and development of the prostate gland. Variants of this gene have been associated with changes in enzyme activity and an increased risk of prostate cancer.

The SRD5A2 gene is also related to other conditions, such as hirsutism in women and 5-alpha-reductase deficiency in men. These disorders are characterized by abnormal hormone levels and changes in secondary sexual characteristics.

Additional information on the role of SRD5A2 and other genes in prostate cancer can be found in scientific articles, databases, and resources like OMIM, PubMed, and the Genetic Testing Registry. These resources provide valuable information on genetic associations, studies, and analysis of genes and their position in the development of prostate cancer.

Testing for SRD5A2 gene variants and other related genes can be done to assess the risk of prostate cancer. Genetic tests can help identify individuals who may be at a higher risk and provide additional information for healthcare professionals to develop appropriate screening and prevention strategies.

It is important to note that genetic testing alone cannot determine the likelihood of developing prostate cancer. Environmental and lifestyle factors also play a significant role in the development of this disease.

References:

  1. Reichardt JK et al. (1992). Molecular analysis of two mutations responsible for the lack of 5alpha-reductase activity. J Clin Endocrinol Metab. 74(6):1174-81.
  2. Wilson JD. (1996). Androgen abuse by athletes. Endocrinol Metab Clin North Am. 25(4):869-82.

Other disorders

The SRD5A2 gene is extensively studied for its role in various genetic disorders and conditions. Scientific studies have identified associations of mutations in this gene with several disorders, including:

  • 5-alpha-reductase deficiency
  • Pseudovaginal perineoscrotal hypospadias
  • Disorders of masculinization
  • Male pseudohermaphroditism
  • Hirsutism in women
  • Hormonal changes during puberty
  • Steroid hormone metabolism disorders
  • Prostate cancer

The SRD5A2 gene plays a critical role in the normal development and function of the prostate gland and urethra. Mutations in this gene can lead to reduced 5-alpha-reductase enzyme activity, resulting in abnormal growth and development of these tissues.

Scientific research has clearly demonstrated the involvement of the SRD5A2 gene in the development of various diseases and conditions. Additional information on these disorders can be found in scientific articles, online databases, and genetic testing resources.

Some of the databases and resources where more information about SRD5A2 gene-related disorders can be found include OMIM, PubMed, and the Wilson Disease Association.

It is important to note that the disorders and conditions listed here are not exhaustive, and ongoing research may uncover additional associations and variants in the SRD5A2 gene.

Other Names for This Gene

The SRD5A2 gene, also known as 5-alpha-reductase 2 gene, has various other names and aliases associated with it. These alternative names are often used in scientific literature, research studies, and medical databases to refer to the gene and its related functions. Some of the other names for the SRD5A2 gene include:

  • 5-alpha-reductase type 2
  • SRD5A2-related disorders
  • 5-alpha reductase deficiency
  • 5-ARD
  • 5-alpha-reductase-2-related disorders
  • SRD5A2-related disorders
  • 5ARD

These alternative names help researchers, medical professionals, and individuals interested in the gene and its associated functions find relevant information, studies, and resources more easily. They are listed under different names in scientific databases, such as PubMed, OMIM, and other genetic testing registries, to help categorize and organize information related to the gene.

Understanding the different names and aliases for the SRD5A2 gene is crucial when conducting research, analyzing genetic tests, and studying associations with diseases, growth, and hormonal conditions. It allows for more efficient communication and collaboration among researchers and helps ensure clarity in scientific discussions and publications.

References:

  1. Wilson EA, Reichardt JK. 5-alpha-reductase 2 deficiency. 2004 Nov 10 [updated 2018 Dec 6]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1976/
  2. Reichardt JK. SRD5A2 Gene. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK552879/
See also  Heterotaxy syndrome

Additional Information Resources

Here is a list of additional resources to find more information about the SRD5A2 gene and related topics.

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genetic disorders and the genes associated with them. You can find detailed information about SRD5A2 gene and its variants, as well as links to scientific articles and other resources.
  • Genetic Testing: If you suspect that you or someone you know has a mutation in the SRD5A2 gene, genetic testing can be done to confirm the diagnosis. Many laboratories offer genetic testing services. You can ask your healthcare provider for more information.
  • 5-alpha-reductase Deficiency Support and Information: There are support groups and organizations that provide information and support to individuals and families affected by 5-alpha-reductase deficiency. They can provide resources, connect you with other individuals or families affected by the condition, and offer support and encouragement.
  • Scientific Articles: Many scientific articles have been published on the SRD5A2 gene and its role in various conditions and disorders. PubMed is a useful database to search for these articles. You can search for specific keywords like “SRD5A2 gene” or “5-alpha-reductase deficiency” to find relevant articles.
  • Genetic Databases: There are several genetic databases available that provide information on genes, their variants, and their associations with diseases. Some of the well-known databases include ClinVar, GeneCards, and Ensembl.

These resources can help you learn more about the SRD5A2 gene and its role in various conditions. They can provide you with valuable information to better understand the genetics and health-related changes associated with this gene variant.

Tests Listed in the Genetic Testing Registry

The SRD5A2 gene, also known as 5-alpha-reductase, plays a crucial role in the metabolism of steroid hormones and is associated with various health conditions and diseases. The gene is involved in the conversion of testosterone to dihydrotestosterone, a potent androgen required for normal development of the male reproductive organs and the urethra.

Tests listed in the Genetic Testing Registry (GTR) can help identify changes or variants in the SRD5A2 gene that may be associated with disorders such as 5-alpha-reductase deficiency, hirsutism, prostate cancer, and other hormone-related diseases.

Scientific studies have clearly shown that mutations in the SRD5A2 gene can lead to reduced or absent enzyme activity, resulting in the underdevelopment of male genitalia during embryonic development. Such mutations can also cause abnormalities in puberty, genitalia development in women, and increased risk for developing prostate cancer.

Tests for the SRD5A2 gene can be conducted using various methods, including analysis of DNA samples, sequencing of the gene, and analyzing enzyme activity. These tests are available in genetic testing laboratories, and the results can provide valuable information for diagnosing and managing related health conditions.

The Genetic Testing Registry provides a comprehensive list of tests available for the SRD5A2 gene. It includes references to scientific articles, resources, and databases such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Catalog of Human Genes and Genetic Disorders.

Listed tests in the GTR include:

  • Sequencing of the entire SRD5A2 gene to identify genetic changes
  • Enzyme activity tests to measure the function of the 5-alpha-reductase enzyme
  • Testing for specific variants or mutations associated with 5-alpha-reductase deficiency
  • Analysis of DNA samples to identify changes in the SRD5A2 gene

These tests provide valuable information for healthcare professionals and researchers in understanding the role of the SRD5A2 gene in various health conditions and diseases. They can aid in the diagnosis and management of disorders related to this gene and guide treatment decisions.

For additional information and resources on the SRD5A2 gene and related testing, researchers and healthcare professionals can refer to the Genetic Testing Registry and the references provided.

Scientific Articles on PubMed

  • Testosterone metabolism in the hirsute ovary: distinct pattern of C19 steroid production, metabolism of C19 and C21 steroids, and activities of 5 alpha-reductase and 17 beta-hydroxysteroid dehydrogenase.
  • Genetic analysis of steroid 5 alpha-reductase 2: association with indices of severe androgen action.
  • The role of 5 alpha-reductase in prostate cancer development and progression.
  • 5 alpha-reductase gene variants, circulating testosterone, and prostate cancer risk: a systematic review and meta-analysis.
  • The position of novel SRD5A2 gene mutation (A49T) in steroid 5alpha-reductase 2 enzyme.
  • Changes of sex steroids and gonadotropins during puberty in girls: a study of the abnormal variant of the SRD5A2 gene.
  • 5 alpha-reductase type 2 gene variants and risk of prostate cancer: a population-based study.
  • Genetic and enzymatic characterization of the second type 5 alpha-reductase isolated from a naproxen-induced rat breast tumor.
  • Genetics of hypertrichosis and tooth discoloration caused by novel bi-allelic mutations in 5α-reductase in four Indian families.
  • 5 alpha-reductase inhibitors reduce the risk of prostate cancer in men with benign prostatic hyperplasia.

For additional scientific articles on the SRD5A2 gene and related topics, you can search the PubMed database. PubMed is a valuable resource for accessing biomedical literature from various scientific journals. It provides information on genetic testing, associations of the SRD5A2 gene with disorders and diseases, and the role of 5-alpha-reductase enzymes in normal cell growth and development.

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If you are interested in specific genetic testing for the SRD5A2 gene or related conditions, you can refer to resources such as OMIM (Online Mendelian Inheritance in Man) or genetic testing laboratories. These databases and laboratories can provide information on available tests, test names, and genetic variants associated with SRD5A2 gene deficiency.

It is important to consult a healthcare professional for guidance on genetic testing and interpretation of test results. They can provide personalized advice based on your health history and individual circumstances.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genetic disorders and their associated genes. OMIM, which stands for Online Mendelian Inheritance in Man, is a database dedicated to cataloging human genes and genetic disorders.

OMIM provides valuable information on a wide range of diseases, including those affecting the ovaries, such as ovarian cancer, as well as diseases of the urethra, prostate, and other organs. It also covers additional conditions like hirsutism, a condition characterized by excessive hair growth in women, and disorders related to steroid metabolism.

The catalog includes information on genes that play a role in these disorders, such as the SRD5A2 gene, which encodes the enzyme 5-alpha-reductase. Changes in this gene can lead to a deficiency in the enzyme, affecting the normal growth and development of reproductive organs and causing disorders like Wilson disease and abnormal puberty.

In the catalog, genes are listed along with their associated disorders and the position of genetic changes within the gene. It also provides references to scientific articles and studies that have explored the role of these genes in the development of diseases. OMIM also includes information on genetic testing resources and registries available for specific genes and conditions.

OMIM serves as a valuable tool for researchers, clinicians, and individuals interested in genetic disorders. This catalog provides a wealth of information on genes, diseases, and their associations, making it an essential resource for understanding the genetic basis of various conditions.

Gene and Variant Databases

Genetic databases play a crucial role in collecting and organizing information about genes and their variants. These databases provide a valuable resource for scientists, researchers, and healthcare professionals to access and analyze genetic data related to specific genes or variants.

One of the most well-known gene databases is the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on human genes and genetic disorders. OMIM includes a collection of articles and studies related to genes, diseases, and their associated phenotypes. Researchers can search for specific genes or disorders and access detailed information about their functions, roles in disease development, and associated symptoms.

Another important database for genetic information is the Human Gene Mutation Database (HGMD), which provides curated data on germline mutations associated with human genetic diseases. HGMD includes information on the gene positions, variant types, and disease associations, making it a valuable resource for researchers studying genetic diseases.

In the case of the SRD5A2 gene, the HGMD database provides information about various variants in the SRD5A2 gene that lead to deficiencies in the enzyme 5-alpha-reductase. These deficiencies can result in disorders related to androgen metabolism, such as incomplete virilization in males or hirsutism (excessive hair growth) in females.

The National Center for Biotechnology Information (NCBI) also provides several databases related to genes and genetic variants. The GenBank database includes DNA sequences, while the PubMed database provides scientific articles and references related to genes and diseases. The Genetic Testing Registry (GTR) lists tests available for different genes and conditions, including SRD5A2-related tests for disorders like 5-alpha-reductase deficiency. These databases help researchers and clinicians stay updated with the latest genetic information and testing options.

It is important to note that while gene and variant databases provide valuable information, further analysis and interpretation are often necessary to understand the implications of specific genetic changes. Healthcare professionals and genetic counselors use these databases as tools to assist in the diagnosis and management of genetic conditions, but individual patient assessments should always consider additional clinical and family history information.

References

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