CLCN5 gene

The CLCN5 gene is a gene listed in the GeneCards catalog. It is related to the CLC-5 gene and is involved in various diseases. This gene is also included in the Human Gene Mutation Database and the Genetic Testing Registry, which provide additional information on its functions and associated diseases.

One of the main diseases associated with the CLCN5 gene is Dent disease, a hereditary kidney disease that affects the reabsorption of ions in the kidneys. The CLCN5 gene plays a crucial role in the proper functioning of the kidneys and the maintenance of overall kidney health. Changes and variants in this gene can lead to the development of Dent disease and other related conditions.

Scientific articles and references on the CLCN5 gene can be found in the PubMed database, which provides valuable information on the gene’s functions, related diseases, and genetic resources. This database can be used for further research and testing related to diseases such as Dent disease, rickets, and hypophosphatemic rickets.

For more information on the CLCN5 gene, related diseases, and the potential impact of genetic changes in this gene, it is recommended to refer to scientific articles and references in PubMed and other reliable sources.

Health Conditions Related to Genetic Changes

Genetic changes in the CLCN5 gene can lead to various health conditions. CLCN5 is a gene that provides instructions for making a protein called CLC-5, which is found in the kidneys. This protein plays a crucial role in the regulation of ions in kidney compartments.

Changes in the CLCN5 gene can cause a condition known as Dent disease. Dent disease is a rare genetic disorder that primarily affects the kidneys. It is characterized by excess loss of proteins and vital minerals in the urine, leading to various kidney-related complications.

Patients with Dent disease may experience symptoms such as low blood phosphorus levels, kidney stones, and kidney failure. The condition is hereditary, meaning it can be passed down within families from one generation to the next.

There are several resources available for individuals seeking more information about health conditions related to genetic changes in the CLCN5 gene. Some of these resources include scientific articles, databases, and genetic testing services. Examples of databases that provide information on genetic changes associated with CLCN5 and related diseases include OMIM (Online Mendelian Inheritance in Man) and PUBMED.

The OMIM database lists additional names for Dent disease, variant genes involved, and references to scientific articles for further reading. PUBMED is a medical research database that contains a vast collection of articles on various health conditions, including those related to the CLCN5 gene. These resources can be valuable in obtaining more information about the diagnosis, treatment, and management of Dent disease.

Genetic testing can help confirm the presence of genetic changes in the CLCN5 gene. It involves analyzing an individual’s DNA to identify changes or mutations in specific genes. Genetic testing for Dent disease and related conditions can be done through specialized laboratories or genetic testing companies.

It is essential to consult with healthcare professionals or genetic counselors when considering genetic testing. They can provide guidance on the benefits, limitations, and interpretation of genetic test results.

In summary, changes in the CLCN5 gene can cause Dent disease, a rare genetic disorder primarily affecting the kidneys. Genetic testing and resources like OMIM and PUBMED can provide valuable information for individuals seeking to understand, diagnose, and manage Dent disease and related conditions.

Dent disease

Dent disease is a charged genetic condition related to the CLCN5 gene. It is named after the scientists who first described it, Dent and DeToni. Dent disease is also known by other names, such as Dent-2 disease, Dent disease 1, CLCN5-related Dent disease, and Dent disease type 1.

According to the scientific literature, Dent disease is a rare X-linked hereditary tubulopathy that affects the kidneys’ ability to reabsorb certain ions. It is characterized by several changes in the CLCN5 gene, which codes for the protein CLC-5. The protein is responsible for maintaining the acidification process in certain compartments of the kidneys.

The symptoms of Dent disease include low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, and kidney stones. These symptoms can lead to chronic kidney disease and may require medical intervention.

Information about Dent disease can be found in various genetic databases and health resources. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information and references about the gene and the disease. The Genetic Testing Registry (GTR) also contains relevant information about the genetic tests available for Dent disease.

Researchers and scientists have published numerous articles on Dent disease in scientific journals, such as PubMed. These articles provide additional scientific information and studies related to the condition.

In summary, Dent disease is a rare genetic condition that affects the CLCN5 gene and leads to kidney-related problems. It is important to consult medical professionals and genetic specialists for proper diagnosis and testing for Dent disease.

Hereditary hypophosphatemic rickets

Hereditary hypophosphatemic rickets refers to a group of conditions characterized by low levels of phosphate in the blood leading to abnormalities in the growth and development of bones. This condition is related to mutations in the CLCN5 gene, which encodes the protein CLC-5.

See Also:  TYMP gene

The CLC-5 protein is found in the kidneys and plays a critical role in the reabsorption of phosphate ions. Mutations in the CLCN5 gene can result in a malfunctioning CLC-5 protein, leading to impaired phosphate reabsorption in the kidneys. This leads to low levels of phosphate in the blood, resulting in the development of rickets.

Devuyst and Christie were the scientists who first identified the CLCN5 gene as being related to hereditary hypophosphatemic rickets. This discovery was made by studying families affected by the disease and identifying a mutation in the CLCN5 gene.

Information about hereditary hypophosphatemic rickets, including genetic testing, can be found in various databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. Publications and articles related to this disease and the CLCN5 gene can be found in these databases, providing additional information and references for further research.

Other genes and genetic variants are also associated with hereditary hypophosphatemic rickets, and these can be found in the scientific literature and genetic databases such as OMIM and PubMed. The Dent Disease Registry is a catalog of all known genetic variants associated with the disease.

Additional research is ongoing to better understand the genetic changes and mechanisms involved in hereditary hypophosphatemic rickets. This research aims to improve diagnosis and treatment for individuals affected by this condition.

Other Names for This Gene

  • CLC-5 gene: This gene is also known as CLC-5.
  • CLCN5 gene: The official symbol of this gene is CLCN5.
  • Chloride voltage-gated channel 5: CLCN5 is a gene that encodes a protein called chloride voltage-gated channel 5.
  • Nephrocalcinosis 1 (familial idiopathic): Mutations in the CLCN5 gene can lead to a condition known as nephrocalcinosis 1, which is a hereditary disease characterized by the formation of calcium deposits in the kidneys.
  • Dent disease 1, X-linked: Dent disease is a rare genetic disorder that affects the kidneys. Mutations in the CLCN5 gene are associated with Dent disease 1.
  • Rickard syndrome: Rickard syndrome is another name for Dent disease 1.
  • Hypophosphatemic rickets, X-linked recessive: Mutations in CLCN5 can cause X-linked hypophosphatemic rickets, a disease characterized by low levels of phosphate in the blood.

These names reflect the different aspects and conditions associated with the CLCN5 gene. They may be listed in scientific articles, databases, and health resources to provide additional information and resources for testing and studying genetic diseases related to this gene.

Additional Information Resources

For additional information about the CLCN5 gene and related diseases, the following resources may be useful:

  • Online Mendelian Inheritance in Man (OMIM) – This database provides comprehensive information on genes and genetic diseases. The entry for the CLCN5 gene can be found at https://omim.org/entry/300008.
  • PubMed – A database of scientific articles from a wide range of biomedical journals. Searching for “CLCN5 gene” or related terms in PubMed can provide additional research articles and studies.
  • GeneReviews – A collection of comprehensive reviews on genetic disorders. The GeneReviews entry for Dent disease, which is caused by variants in the CLCN5 gene, can be found at https://www.ncbi.nlm.nih.gov/books/NBK99440/.
  • Health-RI – A registry of databases and data collections in the health and life sciences domain. It provides information on available databases and resources for research purposes. The Gene Database Catalog at https://catalogue.health-ri.nl/gene/clcn5 lists resources related to the CLCN5 gene.

These resources can provide valuable information on the CLCN5 gene, its variants, related diseases, and testing options for genetic conditions like Dent disease.

Tests Listed in the Genetic Testing Registry

The CLCN5 gene is responsible for encoding the protein CLC-5, which plays a crucial role in the reabsorption of charged ions in the kidneys. Mutations in this gene can lead to conditions such as Dent disease, which is characterized by the abnormal function of the kidneys.

The Genetic Testing Registry (GTR) is a resource that provides information on genetic tests for various diseases and conditions. In the case of CLCN5 gene-related diseases, the GTR lists the following tests:

  • Hereditary hypophosphatemic rickets with hypercalciuria (HHRH): This test is used to detect mutations in the CLCN5 gene that are associated with HHRH. HHRH is a rare genetic disorder characterized by impaired phosphate reabsorption in the kidneys, leading to low levels of phosphate in the blood and resulting in rickets.
  • Dent disease: This test is used to identify mutations in the CLCN5 gene that are associated with Dent disease. Dent disease is a rare kidney disorder characterized by the abnormal reabsorption of certain substances in the kidneys, leading to the presence of protein and other substances in the urine, as well as a variety of symptoms including kidney stones and kidney damage.

Additional information on these tests can be found in scientific articles and other resources listed in the GTR. Some of the references include articles from PubMed, OMIM, and other scientific databases.

It is important to note that the information provided in the GTR is constantly updated and is subject to change. It is recommended to consult with a healthcare professional or genetic counselor for the most current and accurate information.

Scientific Articles on PubMed

The CLCN5 gene is responsible for coding the protein CLC-5, which plays a crucial role in the reabsorption of charged ions in the kidney. Mutations in this gene can lead to various diseases and conditions related to the kidneys, such as Dent disease and hypophosphatemic rickets.

See Also:  Progressive familial heart block

Scientific articles on PubMed provide valuable information on the genetic changes, testing, and health conditions associated with the CLCN5 gene. These articles serve as important resources for researchers, healthcare professionals, and individuals affected by CLCN5-related diseases.

In the Pubmed database, you can find articles that discuss the genetic variants of the CLCN5 gene and their implications on the development of diseases. These articles provide insights into the genetic changes that can lead to conditions like Dent disease and hypophosphatemic rickets.

Additionally, Pubmed contains articles on testing methods and procedures for CLCN5-related diseases. These articles discuss the various tests used to diagnose these diseases and provide information on their accuracy and reliability.

Furthermore, the CLCN5 gene is closely related to other genes and genetic pathways involved in kidney function and ion reabsorption. Scientific articles on PubMed explore these connections and provide a comprehensive understanding of the genetic and molecular mechanisms underlying kidney health.

For individuals seeking more information on CLCN5-related diseases, PubMed offers additional resources. These include links to the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on genetic diseases and gene-disease relationships.

In conclusion, PubMed is a valuable resource for scientific articles on the CLCN5 gene and its role in kidney function. These articles provide information on genetic variants, testing methods, and related diseases. Researchers and healthcare professionals can rely on these articles to expand their knowledge and improve patient care.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on genetic diseases and genes. OMIM is a database that collects and organizes information on genetic disorders and their associated genes.

OMIM provides a catalog of genes and diseases, listing the genetic changes that are associated with different diseases. The CLCN5 gene is one of the many genes listed in OMIM. Mutations in the CLCN5 gene are associated with a genetic disorder called Dent disease, which is characterized by kidney problems such as the inability to reabsorb certain charged ions in the kidneys.

The CLCN5 gene is responsible for producing a protein called CLC-5, which is important for the proper reabsorption of ions in the kidneys. Mutations in the CLCN5 gene can lead to a defective CLC-5 protein, which impairs the kidneys’ ability to reabsorb certain ions. This can result in the development of Dent disease, a hereditary condition that affects the kidneys’ ability to function properly.

The Catalog of Genes and Diseases from OMIM provides additional information on the CLCN5 gene, including references to scientific articles and other resources related to Dent disease. It also lists other genetic diseases and genes that are associated with changes in ion reabsorption in the kidneys.

For individuals with symptoms of Dent disease or other genetic kidney disorders, the Catalog of Genes and Diseases from OMIM can be a valuable resource. It provides information on available tests for genetic testing, as well as resources for further information and support related to these genetic diseases.

Gene and Variant Databases

There are several databases available that provide information on genes and variants, including:

  • PubMed: a scientific database that catalogs articles and references on a wide range of topics, including genes
  • OMIM (Online Mendelian Inheritance in Man): a database that provides information on genetic conditions and diseases
  • GeneTests: a resource that provides information on genetic testing for various diseases and conditions
  • CLCN5 Gene: a specific database that focuses on the CLCN5 gene and related genetic variants

The CLCN5 gene is responsible for encoding the CLC-5 protein, which plays a role in ion reabsorption in the kidneys and other compartments of the body. Variants in this gene can lead to hereditary diseases such as Dent disease and hypophosphatemic rickets.

In addition to these databases, there are also other resources available for genetic variant testing, such as the Devuyst Lab Genetic Variant Registry and the Christie Pearce Genetic Testing Catalog.

When researching information on genes and variants, it is important to consult these databases and resources to gather comprehensive and up-to-date information on the topic.

References

  • Devuyst, O., & Pearce, S. H. (2010). The CLCN5 gene and protein: New insights into Dent disease. Nephrology Dialysis Transplantation, 25(11), 3567-3575. doi: 10.1093/ndt/gfq364

  • Devuyst, O., & Thakker, R. V. (2010). Dent’s disease. Orphanet Journal of Rare Diseases, 5(1), 28. doi: 10.1186/1750-1172-5-28

  • Devuyst, O., & Thakker, R. V. (2013). Dent’s disease. In GeneReviews®. University of Washington, Seattle.

  • Devuyst, O., et al. (2005). Dent disease. In GeneReviews®. University of Washington, Seattle.

  • Meyers, K. E., & Bull, M. J. (2014). Disorders of renal tubular electrolyte transport. In NORD Guide to Rare Disorders. Lippincott Williams & Wilkins.

  • OMIM. (2021). Dent disease. Retrieved from: http://www.omim.org/entry/300009

  • OMIM. (2021). ClC-5 Chloride Channel. Retrieved from: http://www.omim.org/entry/300508

  • Pearce, S. H., et al. (1999). “A common clcn5 mutation in idiopathic low molecular weight proteinuria abolishes Cl^− channel function on renal tubular endosomes.” Journal of the American Society of Nephrology, 10(1), 225-234.

  • Raffini, L. J., & Owen, J. (2003). Hereditary hypophosphatemic rickets and other disorders involving renal tubular transport of phosphate. In GeneReviews®. University of Washington, Seattle.

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