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CTNS gene

The CTNS gene is a crucial gene associated with cystinosis, an inherited metabolic disorder that affects the transport of cystine across the lysosomal membrane. This article provides an overview of the CTNS gene and its role in cystinosis, as well as information on testing and related conditions.

The CTNS gene, also known as cystinosin, encodes a protein called cystinosin that is involved in the transport of cystine out of lysosomes. Mutations in the CTNS gene can lead to defective cystinosin, resulting in the accumulation of cystine within cells and the development of cystinosis.

Cystinosis is a rare condition, with an estimated prevalence of 1 in 100,000 to 200,000 individuals worldwide. The disease is characterized by the accumulation of cystine crystals in various tissues and organs, leading to progressive damage and dysfunction. There are several different types of cystinosis, with the infantile nephropathic form being the most severe and common.

Testing for CTNS gene mutations is available and can help confirm a diagnosis of cystinosis. This can be done through a variety of molecular genetic tests, including gene sequencing, deletion/duplication analysis, and targeted variant analysis. Genetic testing can also be used to determine carrier status and provide information for family planning.

In addition to cystinosis, mutations in the CTNS gene have been associated with other conditions, including idiopathic Fanconi syndrome and late-onset cystinosis. Further scientific research is needed to understand the full range of conditions related to CTNS gene changes.

This article provides references to scientific articles, databases, and other resources for further reading and information on the CTNS gene and related conditions. Some notable resources include the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and the CTNS Genetic Testing Registry. These resources can provide a comprehensive catalog of information on the CTNS gene and its associated diseases.

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Genetic changes in the CTNS gene can lead to various health conditions. The CTNS gene provides instructions for making a protein called cystinosin, which is responsible for transporting the amino acid cystine out of the lysosomes in cells. When the CTNS gene is altered, it can result in a decrease or absence of functional cystinosin, leading to the buildup of cystine inside the lysosomes.

The accumulation of cystine can cause a rare inherited disorder called cystinosis. Cystinosis is characterized by the buildup of cystine in various organs and tissues, including the kidneys, eyes, muscles, and thyroid gland. This accumulation can lead to the formation of cystine crystals, which can cause damage and dysfunction in these organs.

Common symptoms of cystinosis include excessive thirst and urination, growth retardation, kidney dysfunction, photophobia (sensitivity to light), and corneal crystals. Without proper treatment, cystinosis can progress to end-stage kidney disease and other serious medical complications.

Genetic testing for changes in the CTNS gene can help diagnose cystinosis and other related conditions. Testing may involve analyzing the DNA sequence of the gene to identify variants, deletions, or other changes that may be responsible for the disease.

Additional resources for information on the CTNS gene, cystinosis, and related health conditions can be found on scientific article databases such as PubMed and OMIM. These resources provide references to articles, genetic databases, and registries for further information and testing.

References Articles Databases Registry
1. Online Mendelian Inheritance in Man (OMIM) Genet Med PUBMED Cystinosis Research Network (CRN)
2. The Human Gene Mutation Database (HGMD) Clin Genet OMIM European Consortium for Cystinosis (ECC)
See also  MECP2 gene

In conclusion, genetic changes in the CTNS gene can be responsible for the development of cystinosis and other related health conditions. Genetic testing and resources available on databases and registries can provide valuable information and support for individuals and families affected by these diseases.

Cystinosis

Cystinosis is a genetic condition caused by mutations in the CTNS gene. The CTNS gene is listed in various genetic databases, including OMIM, which provides detailed information about the gene, its variants, and related diseases.

Cystinosis is a rare disorder characterized by the accumulation of the amino acid cystine within cells. This buildup of cystine can cause damage to various organs and tissues, including the kidneys, eyes, and muscles.

Common symptoms of cystinosis include excessive thirst and urination, poor growth, and kidney problems. The severity of the condition can vary widely, even among individuals with the same genetic mutations.

Testing for mutations in the CTNS gene is available through scientific and clinical laboratories. These tests can help confirm a diagnosis of cystinosis and guide treatment decisions. The CTNS gene can be analyzed for various changes, such as deletions or changes in the coding sequence.

Cystinosis is one of the many conditions listed in the Genetic Testing Registry (GTR) and other genetic testing databases. These resources provide comprehensive information about the available tests, laboratories, and related resources for cystinosis testing.

In addition, the National Center for Biotechnology Information (NCBI) offers resources such as PubMed, which provides access to a vast collection of scientific articles and references on cystinosis and related topics.

Further information and support for individuals with cystinosis and their families can be found through cystinosis advocacy organizations and patient registries. These resources offer information, support networks, and updates on current research and treatment options.

References and resources
OMIM Online Mendelian Inheritance in Man: CTNS gene
GTR Genetic Testing Registry: Cystinosis
PubMed Scientific articles on cystinosis
Cystinosis Foundation Support and information for individuals with cystinosis

Other Names for This Gene

  • CTNS gene: Cystinosin

  • Responsible Gene: This gene is responsible for cystinosis.

  • Genet: The genes associated with cystinosis are CTNS and some others.

  • Genes Associated with Cystinosis: CTNS and other genes are associated with cystinosis.

  • Article References: This article references the CTNS gene and the genes related to cystinosis.

  • Registry of Research: The registry of cystinosis research contains information on the CTNS gene and other related genes.

  • Nephrol Dial Transplant: The journal Nephrology Dialysis Transplantation has published articles on the CTNS gene and cystinosis.

  • PubMed: PubMed contains scientific articles related to the CTNS gene and cystinosis.

  • Additional Resources: Additional resources for information on the CTNS gene and cystinosis can be found in scientific articles and genetic databases.

  • Health Information: The CTNS gene and cystinosis are discussed in health information articles.

  • Other Names of This Gene: This gene is also known as cystinosin.

  • Common Changes in This Gene: Common changes in the CTNS gene can cause cystinosis.

  • Diseases Related to This Gene: This gene is related to the disease cystinosis.

  • Proteins Encoded by This Gene: The CTNS gene encodes the cystinosin protein.

  • Testing for Variants in This Gene: Genetic testing can be done to identify variants in the CTNS gene.

  • Deletion of This Gene: Deletion of the CTNS gene can lead to cystinosis.

  • Conditions Associated with This Gene: Cystinosis is the main condition associated with the CTNS gene.

  • Cystinosin: Cystinosin is the protein encoded by the CTNS gene.

  • Epub: Scientific articles on the CTNS gene and cystinosis can be found in the EPub format.

  • Scientific Articles: Scientific articles provide information on the CTNS gene and cystinosis.

  • Tests: Genetic tests can be done to detect changes in the CTNS gene associated with cystinosis.

  • Catalog of Genetic Variants: The catalog of genetic variants includes information on the CTNS gene and cystinosis.

Additional Information Resources

  • Diseases: Testing for the CTNS gene is useful in diagnosing cystinosis and other related conditions.
  • Health and Nephrology Variant Registry (HNVN): This registry provides information about genetic changes responsible for cystinosis.
  • Common Scientific Databases: PubMed, Epub ahead of print (Epub), OMIM, and other scientific databases provide additional information on the CTNS gene and cystinosis.
  • Proteins and References Catalog: This catalog lists proteins and references related to the CTNS gene.
  • Genetic Testing: Genetic tests can be performed to identify changes in the CTNS gene that may be responsible for cystinosis.
  • Cystinosis Information Articles: There are numerous articles available that provide information on cystinosis and the CTNS gene.
See also  ALG12-congenital disorder of glycosylation

Tests Listed in the Genetic Testing Registry

The CTNS gene is associated with the rare genetic disorder cystinosis. The variant in the CTNS gene is listed in the Genetic Testing Registry and is related to nephrolithiasis and glomerular proteinuria. This gene is also responsible for the protein cystinosin, which is involved in the transport of cystine out of lysosomes.

Additional tests listed in the Genetic Testing Registry for the CTNS gene include:

  • Deletion analysis of the CTNS gene
  • Testing for other variants in the CTNS gene

These tests are used to identify changes or mutations in the CTNS gene that may be associated with cystinosis or related conditions. They provide valuable information for diagnosis, prognosis, and treatment options.

Scientific articles, OMIM database entries, and references listed in the Genetic Testing Registry provide further information on these tests and the CTNS gene. These resources can help researchers, clinicians, and patients better understand the genetic basis of cystinosis and related diseases.

In addition to the Genetic Testing Registry, other databases such as PubMed, the Online Mendelian Inheritance in Man (OMIM), and the Catalog of Genes and Diseases also contain information on the CTNS gene and related tests. Scientific articles and genetic resources can be found on these platforms, providing a wealth of information on the CTNS gene and its role in cystinosis and other common conditions.

Please refer to these resources for more information on testing options and genetic variants in the CTNS gene.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on various diseases and genetic conditions. It provides access to a vast catalog of articles related to health and genet using the CTNS gene, responsible for cystinosis. This gene encodes cystinosin, a protein that is responsible for transporting cystine out of lysosomes.

The PubMed database contains a wide range of articles on cystinosis, including studies on the CTNS gene and its variants. The articles listed in PubMed include information on the genetic changes and deletion in the CTNS gene, as well as other related genes. The articles also discuss the role of cystinosin in cystinosis and its impact on various organ systems, particularly the kidneys.

In addition to scientific articles, PubMed also provides access to other resources such as the Online Mendelian Inheritance in Man (OMIM) database, which contains information on genetic conditions. Researchers and healthcare professionals can use PubMed to find additional information on cystinosis and related conditions, as well as to access the latest research and clinical guidelines.

It is common for genetic testing labs and clinics to refer to PubMed when conducting research on specific genes and variants. By searching PubMed, they can find relevant articles and references to support their testing and diagnosis. This helps to ensure accurate and up-to-date information is used when assessing individuals for cystinosis or other genetic conditions.

In summary, PubMed is a valuable scientific resource for accessing articles and information related to the CTNS gene and cystinosis. It provides a comprehensive catalog of scientific articles, as well as additional resources and databases, to support research, testing, and diagnosis in the field of nephrology and genetics.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on the genetic causes of various diseases. OMIM is a widely used resource for researchers, clinicians, and patients seeking information on genetic disorders.

OMIM is a collection of genes and genetic diseases that are curated from various scientific databases, including PubMed. It serves as a central repository of information on genetic disorders, making it easier for researchers and healthcare professionals to access and utilize this information.

Cystinosis is a genetic disorder caused by mutations in the CTNS gene. The CTNS gene encodes a protein called cystinosin, which plays a critical role in the transport of cystine out of lysosomes. Mutations in the CTNS gene result in the buildup of cystine within cells, leading to the development of cystinosis.

See also  PRF1 gene

In the Catalog of Genes and Diseases from OMIM, the CTNS gene and related proteins are listed under the entry for cystinosis. This entry provides information on the genetic changes, such as deletions or variants, that are responsible for cystinosis. It also includes additional information on the common names of the gene, as well as links to other resources and databases for further reading.

Patients and healthcare professionals can use the Catalog of Genes and Diseases from OMIM to access information on various genetic conditions, including cystinosis. This can be especially useful for individuals seeking information on diagnostic testing, treatment options, and available support resources.

OMIM also provides a registry of genetic testing laboratories that offer tests for specific genes and diseases. This registry can help individuals locate laboratories that offer testing for the CTNS gene and cystinosis, ensuring they receive accurate and reliable testing for their condition.

References to scientific articles and other resources are provided within the Catalog of Genes and Diseases from OMIM, allowing users to explore the available literature and stay up-to-date on the latest research in the field. The database also includes links to related articles that may provide additional information on the genetic basis of cystinosis and other related conditions.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource that provides comprehensive information on the genetic causes of various diseases, including cystinosis. It serves as a central repository of health information, offering access to scientific databases, articles, and other resources for researchers, clinicians, and patients.

Gene and Variant Databases

Gene and variant databases provide a catalog of changes in genes and variants associated with various diseases and conditions. These databases are valuable resources for researchers, healthcare professionals, and individuals interested in genetic information related to specific genes and diseases.

One commonly used gene and variant database is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information on genetic variants, including deletions, in the CTNS gene, which is responsible for cystinosis. The database lists scientific articles, references, and additional resources related to cystinosis and other related diseases.

Another important database is the PubMed database, which provides a comprehensive collection of scientific articles and publications on genetic variants and their association with diseases. PubMed can be used to search for articles on the CTNS gene, cystinosis, and other related conditions.

In addition to these databases, there are other gene and variant databases that focus on specific genes or diseases. These databases often provide information on the common and rare genetic variants associated with a particular gene or condition. They may also offer information on genetic testing resources, health conditions, and available tests for specific genes.

Some examples of these databases include the NCBI Gene database, which provides information on genes, proteins, and their functions, and the Human Gene Mutation Database (HGMD), which catalogues disease-causing mutations in human genes.

Overall, gene and variant databases play a crucial role in advancing our understanding of genetic diseases and conditions. They provide a centralized and comprehensive repository of information on genetic variants, allowing researchers and healthcare professionals to access valuable data that can inform diagnostic and treatment decisions for patients with genetic disorders.

References

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