The UMOD gene, also known as uromodulin-associated kidney disease gene, is a gene that is associated with various kidney-related health conditions and diseases. This gene is responsible for producing a protein called uromodulin, which is primarily found in the kidneys.

Changes or variants in the UMOD gene can lead to a range of kidney diseases and conditions, including uromodulin-associated kidney disease, cystic kidney disease, and nephropathy. These diseases can cause significant health problems and may require additional testing or medical intervention.

Information on the UMOD gene, its associated diseases, and related research can be found in various resources such as scientific articles, databases, and registries. PubMed, a widely used database, is a valuable source for finding articles and references on the UMOD gene and related conditions. The Online Mendelian Inheritance in Man (OMIM) database also provides comprehensive information on genes and genetic disorders, including those related to the kidney.

The UMOD gene is dominant, meaning that only one copy of the variant gene is needed to cause the associated diseases or conditions. Genetic testing can be used to identify variants in the UMOD gene and help diagnose or determine the risk of developing related kidney diseases.

Health Conditions Related to Genetic Changes

Genetic changes in the UMOD gene can lead to various health conditions. To understand these conditions, it is important to gather information from various resources and references such as OMIM, PubMed, and genetic testing catalogs.

One of the health conditions related to changes in the UMOD gene is Uromodulin-Associated Kidney Disease. Uromodulin, also known as Tamm-Horsfall glycoprotein, is a protein produced by the kidneys. Genetic changes in the UMOD gene can affect the production or function of uromodulin, leading to kidney-related diseases.

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Uromodulin-Associated Kidney Disease includes several conditions, such as Uromodulin-Associated Dominant Interstitial Nephropathy and Uromodulin-Associated Autosomal Dominant Tubulointerstitial Kidney Disease. These conditions are listed in genetic databases and registries, providing additional information and scientific articles for further study.

Testing for genetic changes in the UMOD gene can be done through genetic testing labs and clinics. These tests can help diagnose Uromodulin-Associated Kidney Disease and provide insights into the specific variant or mutation present in an individual’s UMOD gene.

Cystic kidney diseases, which involve the formation of fluid-filled cysts in the kidneys, can also be associated with changes in the UMOD gene. These diseases may have different genetic causes, and UMOD gene variants can contribute to the development of cystic kidney diseases in certain cases.

Overall, the study of the UMOD gene and its associated health conditions is an ongoing field of research. Scientific articles, genetic databases, and genetic testing provide valuable information for understanding the role of the UMOD gene in kidney diseases and related conditions.

Uromodulin-associated kidney disease

Uromodulin-associated kidney disease refers to a group of genetic diseases that affect the kidneys. Uromodulin, also known as Tamm-Horsfall protein, is a protein that is produced by the cells of the kidneys and is found in the urine.

This disease is also known as uromodulin-associated nephropathy or uromodulin-associated kidney diseases (UAKDs). Uromodulin-associated kidney disease is caused by mutations in the UMOD gene, which provides instructions for making uromodulin.

Uromodulin-associated kidney disease can have different patterns of inheritance, including autosomal dominant and autosomal recessive inheritance. Autosomal dominant uromodulin-associated kidney disease is the most common form. It means that an affected person has one altered copy of the UMOD gene in each cell. Autosomal recessive uromodulin-associated kidney disease occurs when an affected person has two copies of the altered gene.

Uromodulin-associated kidney disease can lead to various conditions, including medullary cystic kidney disease, familial juvenile hyperuricemic nephropathy, glomerulocystic kidney disease, and idiopathic hypercalciuria.

Testing for uromodulin-associated kidney disease involves genetic testing to look for changes (mutations) in the UMOD gene. This can be done through a variety of methods, such as targeted mutation analysis, sequence analysis, and deletion/duplication analysis.

For additional information on uromodulin-associated kidney disease, the scientific community has developed various resources. The OMIM database (Online Mendelian Inheritance in Man) provides a catalog of genes and genetic conditions, including uromodulin-associated kidney disease. PubMed is another valuable resource for finding scientific articles related to uromodulin-associated kidney disease and its genetic causes.

The Registry of Uromodulin-Associated Kidney Disease (UMOD Mutation Database) is a comprehensive registry of UMOD gene mutations and associated kidney diseases. It provides information on the specific genetic changes associated with uromodulin-associated kidney disease and additional information on related diseases and conditions.

In summary, uromodulin-associated kidney disease is a group of genetic diseases that affect the kidneys. It is caused by mutations in the UMOD gene and can lead to various conditions. Genetic testing and resources such as OMIM and PubMed can provide information on the genetic causes of uromodulin-associated kidney disease.

Other Names for This Gene

• UMOD gene
• uromodulin gene
• rampoldi gene

The UMOD gene is also known by other names, including:

• Uromodulin gene
• Rampoldi gene

This gene is associated with various kidney conditions, such as:

• Uromodulin-associated kidney disease
• Cystic kidney disease

Testing this gene can provide additional information about the health of the kidneys and can help in the diagnosis of uromodulin-associated diseases. Additional tests and genetic changes in this gene can be identified through scientific articles and references listed on databases such as OMIM, PubMed, and the Genet Testing Registry.

For more information on this gene and related conditions, resources such as PubMed and OMIM can be helpful. These resources contain articles, references, and scientific studies that provide more details about the UMOD gene and its role in kidney health.

In summary, the UMOD gene, also known as uromodulin gene or rampoldi gene, is associated with uromodulin-associated kidney disease and other kidney conditions. Testing this gene can provide valuable information about kidney health and can help in the diagnosis of these diseases. Additional resources such as PubMed and OMIM can provide more information and references on the UMOD gene and related conditions.

Additional Information Resources

For additional information on the UMOD gene, its associated diseases, genetic testing, and related conditions, the following resources may be helpful:

• Registry: The UMOD Gene Variant Catalog, available at – https://rarediseases.org/genes/umod/, provides a comprehensive collection of genetic variants identified in the UMOD gene.
• Genes and Genetic Testing: The UMOD gene, also known as Uromodulin, is responsible for encoding the Uromodulin protein. To learn more about the gene and its functions, visit https://www.ncbi.nlm.nih.gov/gene/7369. Genetic testing for UMOD gene mutations can be performed to identify individuals at risk for uromodulin-associated kidney disease.
• Publications and Articles: PubMed is a reliable source for scientific articles and publications related to the UMOD gene. Search for “UMOD gene” or “uromodulin-associated kidney disease” on https://pubmed.ncbi.nlm.nih.gov/ to access a wide range of research pertaining to this topic.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic disorders, including uromodulin-associated kidney disease. Visit https://omim.org/ and search for “uromodulin-associated kidney disease” or “UMOD gene” to access relevant entries and annotations.
• Health Organizations: Health organizations such as the National Institutes of Health (NIH) and the World Health Organization (WHO) may also provide information on uromodulin-associated kidney disease and related conditions. Visit their official websites for reliable and up-to-date information.

These resources can help you find further information, references, and scientific studies on the UMOD gene, its associated diseases, and genetic testing related to uromodulin-associated kidney disease.

Tests Listed in the Genetic Testing Registry

The UMOD gene, also known as Uromodulin, is associated with various conditions related to kidney health. The Genetic Testing Registry (GTR) provides information on genetic tests for these uromodulin-associated conditions.

In the GTR, you can find scientific articles and other resources related to genetic testing for uromodulin-associated conditions. PubMed, a database of scientific articles, is a valuable resource for finding publications on uromodulin-associated conditions and related genes.

Testing for uromodulin-associated conditions can provide important information about kidney health and the risk of developing certain diseases. Uromodulin-associated conditions include uromodulin-associated kidney disease and cystic kidney diseases.

The GTR catalog lists the genetic tests available for uromodulin-associated conditions, including tests for changes in the UMOD gene. This gene is associated with uromodulin-associated kidney disease, a dominant genetic variant that leads to kidney dysfunction.

In addition to UMOD gene testing, the GTR also provides information on genetic testing for other kidney diseases and genes. These additional tests can help diagnose various nephropathy conditions.

The GTR provides a comprehensive catalog of genetic tests and changes in the UMOD gene. The catalog includes test names, genetic variants, and references to scientific articles. This information can aid healthcare professionals and researchers in understanding and managing uromodulin-associated conditions.

By utilizing the resources provided by the GTR, healthcare professionals and researchers can access valuable information on uromodulin-associated conditions and genetic testing for the UMOD gene. This knowledge is essential for the diagnosis, management, and treatment of kidney diseases associated with uromodulin.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the UMOD gene and its associated diseases. It is a registry of publications from various genetic databases, providing essential information on the dominant gene and its impact on certain health conditions.

The UMOD gene, also known as the uromodulin gene, is primarily expressed in the kidneys and plays a crucial role in urine concentration and kidney function. Mutations in this gene can lead to various diseases, including uromodulin-associated kidney disease.

PubMed provides a comprehensive catalog of scientific articles related to the UMOD gene. These articles range from genetic studies and disease characterization to diagnostic tests and treatment options. The articles listed on PubMed serve as essential references for researchers and healthcare professionals working in this field.

Some of the key topics covered in the scientific articles on PubMed related to the UMOD gene include:

• Genetic changes and variants associated with uromodulin-associated kidney disease
• Cystic kidney diseases and their relationship with UMOD gene mutations
• Diagnostic tests for uromodulin-associated kidney diseases
• Scientific research on uromodulin-associated kidney diseases
• Other genes and conditions linked to UMOD gene mutations

Dr. Rampoldi and his team have contributed extensively to the scientific literature on uromodulin-associated kidney diseases. Their research has shed light on the genetic variations and disease mechanisms associated with UMOD gene mutations.

Overall, PubMed is a valuable resource for accessing scientific articles that provide in-depth information on the UMOD gene and its associated diseases. Researchers and healthcare professionals can rely on these articles to stay up-to-date with the latest advancements in this field and to guide their diagnostic and treatment decisions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) provides a comprehensive catalog of genes and diseases. It serves as a valuable resource for scientific research and clinical diagnosis. This article focuses on the genetic disease uromodulin-associated kidney disease and its related genes.

Uromodulin-Associated Kidney Disease

Uromodulin-associated kidney disease is a dominantly inherited condition that affects the kidneys. It is caused by changes in the UMOD gene, which provides instructions for making the protein uromodulin. Uromodulin is primarily produced in the kidneys and is involved in regulating urine concentration and preventing kidney stone formation.

Genetic Changes

Various genetic changes in the UMOD gene can lead to uromodulin-associated kidney disease. These changes may include mutations, deletions, or duplications of the gene. The exact genetic variant determines the severity and progression of the disease.

Diagnostic Tests

To diagnose uromodulin-associated kidney disease, genetic testing of the UMOD gene can be performed. This testing can identify specific genetic variants responsible for the disease. Additionally, urine tests may also be conducted to evaluate kidney function.

Other Genes and Diseases

OMIM lists additional genes and diseases related to uromodulin-associated kidney disease. These include genes involved in cystic kidney diseases, nephropathy, and other conditions affecting kidney health. The catalog provides references to scientific articles, databases, and resources for further information.

OMIM and PubMed

OMIM integrates information from various sources, including PubMed, a database of scientific articles. Users can find relevant articles about uromodulin-associated kidney disease and other related conditions by searching the OMIM catalog and accessing the associated PubMed references.

Registry and Health Resources

For individuals affected by uromodulin-associated kidney disease and their families, OMIM provides a registry of genetic testing options and resources for further support. This registry can help individuals and healthcare providers access appropriate diagnostic and management resources.

Conclusion

The catalog of genes and diseases from OMIM is a valuable tool for understanding uromodulin-associated kidney disease and related conditions. It provides information on genetic variants, diagnostic tests, and additional genes involved in kidney health. Researchers, healthcare professionals, and individuals can utilize this catalog to expand their knowledge and improve patient care.

Gene and Variant Databases

When studying uromodulin-associated kidney diseases, it is crucial to have access to reliable and up-to-date genetic information. Several databases provide valuable resources for researchers and healthcare professionals to refer to when seeking information on gene and variant associations.

One widely used database is the Online Mendelian Inheritance in Man (OMIM). OMIM is a comprehensive catalog of human genes and genetic disorders. It lists the UMOD gene as a contributor to uromodulin-associated kidney diseases, including cystic kidney diseases. OMIM provides references to scientific articles, PubMed links, and additional resources for further exploration.

PubMed is another valuable database that hosts a vast collection of scientific articles related to different diseases and conditions. Searching for “UMOD gene” or “uromodulin-associated kidney diseases” on PubMed can provide a plethora of articles discussing the genetic variants and their association with kidney diseases. It is a helpful resource for staying updated on the latest research in the field.

Genetic testing companies also maintain databases that offer information on genetic variants and their impact on health. These databases are primarily used for clinical testing purposes and can provide insights into the specific UMOD variants associated with uromodulin-related kidney diseases.

One example is the UMOD gene page on the GeneTests website. GeneTests is a comprehensive registry of genetic tests and related services. The UMOD gene page provides information about the gene, its related diseases, testing resources, and other useful links for further exploration.

Overall, these databases offer a wealth of information on the UMOD gene and its variants. Researchers and healthcare professionals can rely on these resources to stay informed about the latest developments in uromodulin-associated kidney diseases. The availability of these databases ensures that accurate and relevant information is readily accessible for diagnostic and research purposes.

References

• Catalog of kidney diseases:

  • Cystic kidney diseases
  • Uromodulin-associated kidney diseases

• Databases and resources:

  • OMIM – Online Mendelian Inheritance in Man
  • PubMed – online database of scientific articles
  • Genetic testing registry

• Gene and variant information:

  • UMOD gene
  • Rampoldi L et al. – Uromodulin-associated kidney diseases
  • Genes related to UMOD gene

• Additional information:

  • Nephropathy
  • Other uromodulin-associated kidney diseases
  • Changes in kidney