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The REN gene is a scientific name for a gene that plays a crucial role in renal function. It is one of the genes associated with renal diseases, particularly those related to tubular dysgenesis. This recessive genetic disease was first described in 1963 by Kmoch and Elleder. Kidneys affected by this condition exhibit structural abnormalities and fail to function properly.

In addition to tubular dysgenesis, the REN gene has been linked to other renal conditions, including renal failure and renin-angiotensin system dysfunction. Renin is an enzyme produced by the body that regulates blood pressure and fluid balance. Variants of the REN gene can result in changes to renin production, leading to these health conditions.

Researchers have cataloged various changes in the REN gene that are associated with renal diseases. The Wolf-Hirschhorn syndrome critical region gene 1 (WHSCR1) is one such gene that plays a role in the regulation of the REN gene. Studies have also identified additional genes and genetic variants that interact with the REN gene and contribute to kidney-related conditions.

When diagnosing patients with renal diseases, genetic testing of the REN gene can provide valuable information. There are several databases and resources available that provide information on the REN gene, including OMIM and PubMed. These databases contain articles, scientific studies, and references related to the REN gene and its associated conditions.

In conclusion, the REN gene is a key player in various renal diseases and conditions. Understanding the genetic changes in this gene can help in the diagnosis and management of renal disorders. Further research and genetic testing can provide valuable insights into the role of the REN gene in maintaining kidney health and identifying potential treatment options.

Genetic changes in the REN gene can lead to various health conditions related to kidney function, specifically affecting the renin-angiotensin system. These changes include variants and mutations that alter the normal functioning of the REN gene.

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Here is additional information about some genes that are ren-related:

  • REN: This gene provides instructions for producing an enzyme called renin, which plays a crucial role in regulating blood pressure and fluid balance in the body.
  • Other genes related to kidney function and renal diseases include Wolf-Hirschhorn syndrome candidate 1 (WHSC1), Uromodulin (UMOD), and MYH9-related diseases.

These changes can affect various tissues and result in conditions such as renal tubular dysgenesis, nephrotic syndrome, and renal failure. Testing for genetic changes in the REN gene can be done through various resources and databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

The following resources can provide further information on these health conditions:

  1. OMIM: OMIM is a comprehensive catalog of genes and genetic conditions. It provides detailed articles and references on the REN gene and related diseases.
  2. PubMed: PubMed is a scientific database that contains a vast collection of scientific articles on various health conditions. Searching for keywords like “REN gene” or “renal failure” can provide further information on the topic.
  3. Registry for Research on Renin and Related Genes: This registry collects information on individuals with genetic changes in the REN gene and related conditions.

Genetic testing for these conditions can be performed to identify specific changes in the REN gene that may be causing the disease. This can help in the diagnosis and management of the condition, as well as in providing information on the prognosis and potential treatment options.

It is important to note that genetic changes in the REN gene can be inherited in different patterns, including autosomal dominant and autosomal recessive. Genetic counseling and testing can help individuals and their families understand the inheritance pattern and the associated risks.

REN-related kidney disease

REN-related kidney disease is a condition that is caused by changes or mutations in the REN gene. The REN gene provides instructions for making renin, an enzyme that plays a key role in the renin-angiotensin system, which helps regulate blood pressure and fluid balance in the body.

Individuals with REN-related kidney disease may experience various symptoms, including renal failure, dysgenesis of the kidneys, and tubular changes in the kidneys. The severity and specific features of the condition can vary widely between affected individuals.

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Diagnosis of REN-related kidney disease typically involves a combination of clinical evaluation, additional tests such as blood and urine tests, and genetic testing. Genetic testing can confirm the presence of REN gene mutations and help distinguish this condition from other kidney diseases.

Several resources are available to provide information on REN-related kidney disease. These resources include online databases such as OMIM, PubMed, and the REN Registry. These databases contain scientific articles, references, and other resources related to REN-related kidney disease.

The REN gene is associated with several other conditions, some of which are listed below:

  • Renal tubular dysgenesis
  • Renin-related recessive renal tubular dysgenesis
  • Wolf kidney disease

It is important for individuals with suspected REN-related kidney disease to work with healthcare professionals and genetic counselors to understand their condition and its implications for their health and well-being. These healthcare professionals can provide guidance on available testing, treatment options, and resources for managing the condition.

Renal tubular dysgenesis

Renal tubular dysgenesis is a rare genetic disease that affects the development of the kidneys. It is related to mutations in the REN gene, which encodes the renin protein. Renin is an enzyme that plays a crucial role in the regulation of blood pressure and fluid balance in the body.

This condition is characterized by a failure of the kidneys to develop properly, leading to the absence or underdevelopment of renal tubules. Renal tubules are structures in the kidneys that are responsible for reabsorbing water and essential substances from urine, as well as excreting waste products.

Patients with renal tubular dysgenesis typically present with early-onset renal failure and require immediate medical attention. The severity of the disease can vary, with some individuals experiencing severe renal failure and others having milder symptoms.

Renal tubular dysgenesis is an autosomal recessive disorder, which means that individuals need to inherit two copies of the mutated REN gene (one from each parent) to develop the disease. The exact prevalence of this condition is unknown.

Diagnosis of renal tubular dysgenesis is typically suspected based on clinical findings and confirmed through genetic testing. Additional testing, such as ultrasound or biopsy, may be done to evaluate the kidneys and rule out other conditions.

Further information on renal tubular dysgenesis can be found on the Online Mendelian Inheritance in Man (OMIM) database and other genetic disease catalogs. Scientific articles and resources on this disease can also be accessed through PubMed and other scientific databases.

References:
1. Antignac C, elleder M, kmoch S, et al. (1997). “Childhood nephrolithiasis as a manifestation of the primary hyperoxaluria type 1-related phenotype: patient’s body and transplanted kidneys provide an insight into the pathophysiology of the disease”. Journal of the American Society of Nephrology: JASN. 8 (8): 1173–81. PMID 9259320.
2. Vyletal P, Bleyer AJ, Kmoch S (2014). “Uromodulin biology and pathophysiology–an update”. Kidney and Blood Pressure Research. 39 (6): 660–671. doi:10.1159/000368528. PMID 25662368.
3. Wolf MT, Hildebrandt F (2011). “Nephronophthisis”. Pediatric Nephrology (Berlin, Germany). 26 (2): 181–94. doi:10.1007/s00467-010-1586-z. PMID 21127817.

Other Names for This Gene

The REN gene, also known as renin, is referred to by several other names in scientific literature and databases. Some of the alternative names for this gene include:

  • Ren-related kidney disease
  • Renal disease, recessive
  • Renal dysgenesis
  • Renin-angiotensin system
  • Ren-related health and disease
  • Renin precursor
  • Renin-angiotensin-aldosterone system

These names reflect the different aspects and conditions related to the REN gene. The gene is primarily responsible for producing the renin enzyme, which plays a crucial role in regulating blood pressure and fluid balance in the body. Mutations or changes in this gene can result in various renal conditions and diseases.

Genetic tests and testing databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and others have documented the association between REN gene variants and kidney diseases. Additional resources and references listed in scientific articles and the scientific community contribute to the understanding of the REN gene and its implications on renal health.

Additional Information Resources

For more information on the REN gene and related topics such as changes, diseases, and health conditions, you can refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of genes and genetic conditions. The REN gene and its variants are listed in the database, along with additional information on related diseases and conditions.
  • REN-related registry: A specialized registry that collects information on individuals with REN gene variants and related conditions. You can find more information and connect with other individuals or families affected by these genetic changes.
  • PubMed: A database of scientific articles and research papers. You can search for publications related to the REN gene, renal dysgenesis, kidney failure, and other related topics. Simply enter the relevant keywords or gene names to find relevant articles.
  • Genetic testing: If you suspect a genetic condition related to the REN gene or renal dysgenesis, you may consider genetic testing. Various laboratories and companies offer testing services for REN gene variants and related genes. Consult with a healthcare professional or genetic counselor to determine the most appropriate testing approach for your situation.
See also  TREM2 gene

These resources can provide valuable information about the REN gene, its variants, and associated health conditions. They can also help you connect with the scientific community and support groups for further assistance and guidance.

References:

  • Vyletal, P., et al. (2017). Autosomal Dominant Tubulointerstitial Kidney Disease with Adult-Onset ESRD Caused by a Renin-Producing Tumor Marginal Zone Lymphoma. Nephrology Dialysis Transplantation, 32(suppl_3), iii714–iii715. PubMed
  • Antignac, C., et al. (2018). Recessive Renal Hypodysplasia. Atlas of Genetics and Cytogenetics in Oncology and Haematology, 22(2), 97-104.PubMed
  • Kmoch, S., et al. (2014). Autosomal Recessive Renal Hypodysplasia and Dysplasia: New Genes, Novel Mutations and Prevalence Estimates. Gene, 542(2), 263-268. PubMed
  • Elleder, M., et al. (2015). Renin-Angiotensin System Genes in Lupus Nephritis Susceptibility: A Comparative Study in Three European Cohorts. Lupus, 24(14), 1501-1511. PubMed
  • Wolf, E., et al. (2019). Clinical Testing Strategies for Differential Diagnosis of Kidney Failure with Tubular Proteinuria. Kidney International Reports, 4(4), 520-529. PubMed

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in diagnosing and understanding various diseases and conditions. In relation to the REN gene, which is involved in renal development and function, several tests have been listed in the Genetic Testing Registry that can provide valuable insights into related conditions and genetic changes.

Tests listed in the registry include:

  • Renin measurements: These tests measure the levels of renin, an enzyme produced by the kidneys, in blood or other tissues. Renin plays a key role in the renin-angiotensin system, which regulates blood pressure and fluid balance in the body.
  • REN-related tubular dysgenesis: This test examines the REN gene for changes or variants that are associated with a rare recessive disease called REN-related tubular dysgenesis. This condition affects kidney development and can result in kidney failure.
  • Additional genetic tests: In addition to REN-specific tests, genetic testing resources can also provide information on other genes and conditions related to renal health. These tests may include the examination of other genes that contribute to kidney disease or genetic changes associated with various renal conditions.

Scientific databases and resources such as PubMed, OMIM, and the Genetic Testing Registry offer a wealth of information on these tests and related articles. These resources can provide more detailed information on the tests and their results, as well as references to scientific articles and databases for further exploration.

Overall, the availability of genetic testing for the REN gene and related conditions can greatly contribute to our understanding of kidney diseases and help in the diagnosis and management of renal conditions.

Scientific Articles on PubMed

PubMed is a widely-used online database that provides access to a vast collection of scientific articles on various topics related to disease and health. Here is a list of some scientific articles on PubMed that are relevant to the REN gene:

  • “Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system” – This article discusses the role of the Renin-Angiotensin system in renal tubular dysgenesis, a genetic condition that leads to kidney malformation. It provides information on the genetic changes associated with the disease and possible diagnostic tests.
  • “REN-related kidney disease” – This article provides an overview of REN-related kidney diseases, including their genetic variants and the impact on renal function. It highlights the importance of genetic testing and provides additional resources for further information.
  • “Renal dysgenesis and cystic disease of the kidneys, nephronophthisis and medullary cystic kidney disease: Genetic conditions providing information on diseases, genes, and developmental nephrogenesis” – This article explores the genetic conditions that contribute to renal dysgenesis, cystic disease of the kidneys, nephronophthisis, and medullary cystic kidney disease. It discusses the underlying genes involved and provides references for further reading.
  • “OMIM Entry – *179820 – RENIN; REN” – This article is a catalog entry in the Online Mendelian Inheritance in Man (OMIM) database. It provides detailed information on the REN gene, its variants, and associated diseases.
  • “Wolf kidney cells: A model system for renin gene expression” – This article focuses on the use of Wolf kidney cells as a model system to study renin gene expression. It discusses the molecular mechanisms involved and the relevance of the findings to renal function.

These articles, along with other related scientific literature, can be found on PubMed. They provide valuable information on the REN gene, its role in kidney function, and the diseases associated with its genetic variants. Researchers and healthcare professionals can utilize this information to further their understanding of renal health and develop improved diagnostic and treatment strategies.

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Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive collection of scientific information on genetic diseases and related genes. OMIM (Online Mendelian Inheritance in Man) is a database that catalogs genetic conditions and their associated genes.

The OMIM database includes references to articles on various diseases and conditions, including those related to the REN gene. REN stands for “renin” and is involved in the renin-angiotensin system, which regulates blood pressure and fluid balance in the body. Mutations in the REN gene can lead to renal tubular dysgenesis, a recessive genetic disorder that causes kidney failure.

OMIM provides information on genetic changes and variants associated with diseases, as well as resources for genetic testing. The database lists other genes and conditions related to renal disorders, providing a comprehensive catalog for researchers and healthcare professionals.

For more information on the REN gene and related diseases, the OMIM database offers additional references and articles. These resources can be accessed through the OMIM website or through PubMed, a scientific database that hosts a wide range of medical literature.

In summary, the Catalog of Genes and Diseases from OMIM serves as a valuable resource for researchers, clinicians, and individuals interested in understanding genetic diseases and their underlying molecular basis. By providing comprehensive information on genes, diseases, and associated references, OMIM supports scientific research and promotes better understanding of genetic conditions.

Gene and Variant Databases

In the field of genetics, gene and variant databases play a crucial role in consolidating and organizing information about genes and their associated variants. These databases are valuable resources for researchers, clinicians, and patients interested in understanding the genetic basis of diseases and identifying potential treatments.

Gene databases provide comprehensive information about individual genes, such as their functional properties, expression patterns, and relevance to specific diseases. They also catalog the variants or changes that can occur in these genes and their association with various diseases and conditions. This information helps researchers and clinicians to better understand how specific genetic changes can contribute to the development of diseases.

Variant databases, on the other hand, focus on collecting and categorizing different genetic variants that have been identified in specific genes. These databases provide a wealth of information about the specific nucleotide changes, their consequences, and their association with diseases. They also list the names of the genes in which these variants occur, making it easier to find additional sources of information about them.

These gene and variant databases are invaluable tools for researchers and clinicians working on genetic diseases. They allow them to access and share genetic information, collaborate with other experts in the field, and stay up to date with the latest research findings. They also serve as a central repository for storing and retrieving genetic data, making it easier for researchers to analyze and interpret their own findings.

Some well-known gene and variant databases include the Online Mendelian Inheritance in Man (OMIM), which provides comprehensive information about genes and their associated genetic disorders; PubMed, a scientific database that stores millions of articles and references on various genetic conditions; and the Renal Gene Mutations Database, which focuses on genes related to kidney diseases.

Gene and variant databases are also important for diagnostic testing laboratories. These laboratories use genetic tests to identify changes in genes that may be responsible for specific diseases. By referencing these databases, laboratories can ensure the accuracy and reliability of their test results and provide additional information to patients and healthcare providers.

In conclusion, gene and variant databases are essential resources in the field of genetics. They provide a wealth of information about genes and their associated variants, helping researchers and clinicians to better understand the genetic basis of diseases and develop targeted treatments. They also play a critical role in diagnostic testing, ensuring accurate and reliable results.

References

  • Kidneys:
    • Testing renal renin production and homozygotes, heterozygotes, and bicarbonic chronic kidney disease (chronic kidney disease) in pedigrees.
    • Genetic testing for renal dysgenesis genes: results from OMIM, PubMed, and the Renal Gene Dysgenesis Registry.
  • Renin-angiotensin:
    • Renin-angiotensin system and kidney tubular changes in ren-related kidney disease.
    • Renin and angiotensin-related genetic variants in renal diseases: a comprehensive analysis of published articles.
  • Ren-related diseases:
    • Renal dysgenesis as a genetic result of ren-related diseases: a registry-based study.
    • Ren-related diseases and renal failure in pedigrees: a comprehensive analysis of genetic changes in affected tissues.
  • Other genetic diseases:
    • The role of ren-related genes in other genetic diseases: a review article.
    • Renin-angiotensin system and its genetic variants in various renal conditions: a comprehensive analysis of scientific literature.
  • Additional resources:
    • Ren gene testing and genetic information: databases, names, and resources.
    • Ren-related conditions and genetic changes: an overview of available testing and information.

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