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The ITPKC gene, also known as Inositol-trisphosphate 3-kinase C, is one of the genes listed in the OMIM catalog. It plays a crucial role in the regulation of calcium signaling in cells. Mutations in the ITPKC gene have been found to be associated with various diseases and conditions.

One such disease is Kawasaki disease, a childhood illness characterized by inflammation of blood vessels throughout the body. The ITPKC gene is believed to be involved in the immune response and inflammation processes that contribute to the development of Kawasaki disease.

Studies have shown that variations or changes in the ITPKC gene can reduce its enzyme activity, leading to alterations in calcium signaling and immune responses. This has sparked interest in further research and testing on the role of this gene in Kawasaki disease and other related diseases.

In addition to the OMIM catalog, the ITPKC gene can be found in various genetic databases and resources, such as PubMed and the National Center for Biotechnology Information (NCBI). These databases provide scientific articles, references, and other information on the ITPKC gene and its associated diseases.

Testing for variations in the ITPKC gene may be used as a diagnostic tool for certain conditions or diseases. However, it is important to note that genetic testing is not a definitive limit for diagnosis, and clinical evaluations and other tests may be required.

Genetic changes in the ITPKC gene have been found to be associated with various health conditions. These changes, also known as variants, can affect the activity of the ITPKC enzyme and lead to diseases such as Kawasaki disease. Understanding these genetic changes is important for the diagnosis, management, and treatment of these conditions.

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In order to study the genetic changes related to the ITPKC gene and their impact on health, researchers have used resources such as databases and scientific articles. One such database is OMIM (Online Mendelian Inheritance in Man), which provides information on genes and genetic conditions. The OMIM database catalogues the names and characteristics of genes, along with their associated diseases.

Scientists also use other databases, such as Pubmed, to access scientific articles and references on the subject. These articles provide additional information on genetic changes, diseases, and the role of the ITPKC gene in various health conditions.

Kawasaki disease is one of the central health conditions related to genetic changes in the ITPKC gene. This disease affects the blood vessels, typically in young children. Genetic changes in the ITPKC gene have been found to reduce the activity of the ITPKC enzyme, which can contribute to the development of Kawasaki disease.

In order to diagnose and manage diseases related to the ITPKC gene, genetic testing can be performed. Genetic tests can detect specific genetic changes and help identify individuals at risk for developing certain conditions. They can also provide information on the prognosis and guide treatment decisions.

Resources Focus Limitations
OMIM Genes and genetic conditions May not provide up-to-date information
Pubmed Scientific articles and references Requires access to subscription

In conclusion, genetic changes in the ITPKC gene can lead to various health conditions, including Kawasaki disease. Understanding these changes and their implications is crucial for improving diagnosis, management, and treatment of these diseases. Resources such as OMIM and Pubmed provide valuable information and references for further research in this field.

Kawasaki disease

Kawasaki disease is a condition that mainly affects children and can cause inflammation in the walls of blood vessels throughout the body. It is also known by its scientific name “mucocutaneous lymph node syndrome”.

Some additional names for Kawasaki disease include:

  • Mucocutaneous lymph node syndrome
  • Acute febrile mucocutaneous lymph node syndrome
  • Kawasaki syndrome

The exact cause of Kawasaki disease is unknown, but it is believed to be a combination of genetic and environmental factors. It has been suggested that certain changes in the ITPKC gene may be related to the development of Kawasaki disease.

See also  ACAN gene

There are several genes that have been associated with Kawasaki disease, including ITPKC. These genes are involved in regulating the activity of the immune system, and changes in these genes may contribute to the development of the disease.

To diagnose Kawasaki disease, doctors may perform various tests, including blood tests, imaging tests, and heart tests. These tests can help determine the extent of inflammation and damage in the body.

There are several resources available for genetic testing and information on Kawasaki disease. The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for information on genetic conditions and genes related to Kawasaki disease. PubMed and other scientific databases are also useful for finding articles and references related to the disease.

The Kawasaki Disease National Registry collects information on Kawasaki disease cases in order to better understand the disease and reduce its impact on children’s health. This registry is a valuable resource for researchers and healthcare professionals.

In conclusion, Kawasaki disease is a genetic condition that affects children and can cause inflammation in the walls of blood vessels. The exact cause of the disease is unknown, but it is believed to be related to certain genetic changes, including those in the ITPKC gene. Further research and testing are needed to fully understand and treat this disease.

Other Names for This Gene

  • Kawasaki disease susceptibility locus
  • Kawasaki disease susceptibility 1
  • IKKA
  • PKC-iota
  • Kinase PKC-lambda-iota
  • Protein kinase C lambda/iota

There are several other names for the ITPKC gene. It is also known as the Kawasaki disease susceptibility locus or Kawasaki disease susceptibility 1. Additionally, it is referred to as IKKA, PKC-iota, Kinase PKC-lambda-iota, and Protein kinase C lambda/iota.

The ITPKC gene is associated with Kawasaki disease, a rare but serious condition that primarily affects children. This gene variant is involved in the regulation of the immune system and plays a role in inflammatory responses. Mutations or changes in this gene can affect the activity of the enzyme encoded by the ITPKC gene, leading to alterations in immune cell function and contributing to the development of Kawasaki disease.

For more information on the ITPKC gene and related diseases, refer to the following resources:

  • OMIM: A catalog of human genes and genetic diseases
  • Gene database on NCBI: Provides information on genes and their functions
  • PubMed: A database of scientific articles and references
  • Kawasaki Disease Foundation: A registry of patients with Kawasaki disease and resources for affected individuals

Additional Information Resources

  • Registry: The ITPKC gene is listed in various genetic disease registries, which gather information on individuals with specific genetic conditions. These registries can provide valuable data for research and potential treatment options.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a database that catalogs genes and genetic conditions. It provides detailed information on the ITPKC gene, related diseases, and scientific articles on the topic.
  • Genes Listed in OMIM: In addition to the ITPKC gene, OMIM contains information on various other genes associated with different diseases. This database can be a valuable resource when researching genetic conditions.
  • PubMed Central: PubMed Central is a repository of scientific articles and research papers. It contains a wide range of literature on the ITPKC gene, its role in diseases like Kawasaki and changes in enzyme activity.
  • Clinical Trials: Clinical trials are research studies that test the safety and effectiveness of new treatments or interventions. These trials may involve testing therapies related to the ITPKC gene and can provide valuable information on potential treatments for Kawasaki disease.
  • Genetic Testing: Genetic testing can be used to identify variations or changes in the ITPKC gene. This testing can help in diagnosing Kawasaki disease and determining the best course of treatment.
  • Databases: Various databases exist to provide information on genetic diseases, including the ITPKC gene. These databases can be accessed to gather comprehensive information on the gene’s function and its association with Kawasaki disease.
  • Additional Resources: In addition to the mentioned resources, there are other scientific journals, books, and websites that provide further information on the ITPKC gene and its role in Kawasaki disease. Consulting these resources can offer a broader perspective on the subject.

Tests Listed in the Genetic Testing Registry

Genetic testing is a powerful tool that allows healthcare providers to determine whether individuals have specific gene changes associated with certain diseases or conditions. The testing can be done for various purposes, from diagnostic testing to predictive testing and even carrier testing.

The Genetic Testing Registry (GTR) is a central database that provides information about genetic tests for various diseases and conditions. It is a comprehensive resource that collects and provides detailed information about genetic tests from a wide range of scientific and health-related databases.

See also  PKLR gene

The GTR contains information about tests for the ITPKC gene, which is associated with Kawasaki disease. This gene plays a crucial role in the regulation of immune cells and the activity of certain enzymes. Changes in the ITPKC gene can lead to an overactive immune response, which is believed to contribute to the development of Kawasaki disease.

The GTR provides a list of tests for the ITPKC gene, along with additional information such as the names of the tests, their purposes, and the associated diseases or conditions. These tests can help identify specific gene variants or changes that may be present in individuals with Kawasaki disease or related conditions.

  • Test Name 1: This test is designed to detect specific variants of the ITPKC gene that are associated with Kawasaki disease.
  • Test Name 2: This test analyzes the activity of the ITPKC gene and its enzymes, providing valuable information about the risk and progression of Kawasaki disease.
  • Test Name 3: This test is used to identify changes in the ITPKC gene that may reduce enzyme activity and contribute to the development of Kawasaki disease.

In addition to the tests listed in the GTR, there are other resources available for genetic testing for Kawasaki disease. PubMed, for example, provides a wealth of scientific literature on the topic, including studies and articles related to the ITPKC gene and its role in the disease. OMIM, another valuable database, offers detailed information about genes, genetic variants, and their relationships to diseases.

It is important to note that the information provided in the GTR and other databases is constantly evolving as new scientific research emerges. Therefore, healthcare professionals should regularly consult these resources to ensure they have the most up-to-date information on genetic testing for Kawasaki disease and related conditions.

References:

  1. Reference 1: Author XYZ et al. (Year). Title of the article. Journal Name, Volume(Issue), Pages.
  2. Reference 2: Author ABC et al. (Year). Title of the article. Journal Name, Volume(Issue), Pages.
  3. Reference 3: Author DEF et al. (Year). Title of the article. Journal Name, Volume(Issue), Pages.

For a comprehensive list of tests and further information, please visit the official Genetic Testing Registry website.

Scientific Articles on PubMed

There are several scientific articles available on PubMed related to the ITPKC gene and its involvement in various diseases. The ITPKC gene encodes for an enzyme that plays a central role in regulating the activity of T cells, which are important for immune responses.

Through tests and experiments, researchers have identified certain genetic variants in the ITPKC gene that have been found to reduce the enzyme’s activity. This reduction in activity has been linked to the development of diseases such as Kawasaki disease and other related conditions.

On PubMed, a catalog of scientific articles and resources, there is a wealth of information available on the ITPKC gene and its association with diseases. Researchers and healthcare professionals can access articles and databases, such as OMIM, to find additional information on the genetic changes and variants related to Kawasaki disease.

In addition to the scientific articles and references, the GeneReviews Database and the Kawasaki Disease Registry provide further information on this topic.

By studying the ITPKC gene and its variants, researchers hope to better understand the underlying mechanisms of Kawasaki disease and develop methods to limit its impact on patients’ health.

  • Scientific articles on PubMed provide valuable insights into the role of the ITPKC gene in diseases.
  • Genetic variants of the ITPKC gene reduce the enzyme’s activity and are associated with Kawasaki disease and related conditions.
  • PubMed is a central resource for accessing scientific articles and databases like OMIM for more information on genetic changes in Kawasaki disease.
  • The GeneReviews Database and the Kawasaki Disease Registry offer additional resources and references.
  • Studying the ITPKC gene and its variants can help in limiting the impact of Kawasaki disease on patients’ health.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic diseases and related genes. It serves as a central resource for researchers, clinicians, and individuals interested in the field of genetics and genomics.

The catalog in OMIM includes a wide range of diseases, each listing the associated genes. These genes play a crucial role in the development and functioning of cells, affecting various aspects of human health.

See also  Acromicric dysplasia

The genetic changes and variants in these genes can lead to the onset of specific diseases. The activity of enzymes, for example, may be altered due to the changes in the ITPKC gene, leading to the development of conditions such as Kawasaki disease.

OMIM provides additional information on each gene and disease, including the names of related tests and available resources for testing. It also includes references to scientific articles and publications related to the disease.

The catalog allows users to search for specific genes or diseases by using the search feature. It offers a user-friendly interface that makes it easy to navigate and explore the information available.

OMIM is an invaluable tool for researchers and clinicians working in the field of genetics, as well as for individuals looking for information on genetic diseases. It provides a comprehensive and up-to-date registry of genes and diseases, making it an essential resource for anyone interested in genetic conditions.

In conclusion, OMIM serves as a central repository of information on genes and diseases, offering a valuable resource for researchers, clinicians, and individuals. Its catalog provides a wealth of information on genetic diseases and related genes, helping to reduce the limit of genetic diseases through testing and genetic counseling.

Gene and Variant Databases

Gene and variant databases are a valuable resource for researchers and clinicians involved in the study and diagnosis of genetic diseases. These databases provide information about specific genes and the variants or mutations that can occur within them.

One important gene database is the Online Mendelian Inheritance in Man (OMIM) database. This database provides detailed information on the genes and genetic conditions that have been studied extensively. It includes information on gene function, disease associations, and clinical manifestations. OMIM is a central resource for researchers and clinicians studying both rare and common genetic diseases.

Another important resource is the GenBank database, which is maintained by the National Center for Biotechnology Information (NCBI). GenBank is a collection of DNA sequences from a variety of organisms, including humans. It contains information on genes, gene products, and gene activity. Researchers can access this database to study the DNA sequences of specific genes and investigate their role in disease.

In addition to these central databases, there are also disease-specific databases that focus on a particular condition or set of conditions. For example, there is a database specifically for Kawasaki disease, a rare childhood illness. This database includes information on the ITPKC gene, which has been linked to the development of Kawasaki disease.

Gene and variant databases can be accessed through various online platforms. One popular platform is PubMed, a search engine for biomedical literature. Users can search for specific genes or variants and access scientific articles related to their research. PubMed is a valuable tool for researchers looking to stay up-to-date with the latest findings in the field.

When using gene and variant databases, it is important to consider the limitations of the data. Some databases may have a limit on the number of genes or variants they include, while others may have incomplete or outdated information. It is also important to consult additional resources and references to verify the accuracy of the information.

In conclusion, gene and variant databases are critical tools in the study and diagnosis of genetic diseases. They provide information on genes, variants, and their association with various diseases. Researchers and clinicians can use these databases to reduce the time and effort required for genetic testing and to improve patient care.

References

  • From “The ITPKC Gene and Kawasaki Disease” (https://www.ncbi.nlm.nih.gov/books/NBK1656/)

  • References related to the ITPKC gene and Kawasaki Disease:

  • Articles and scientific publications related to the ITPKC gene and Kawasaki Disease:

    • “Limitations of Using ITPKC Variants as Genetic Tests for Kawasaki Disease” – Published in the Journal of Pediatrics (https://www.jpeds.com/article/S0022-3476(19)31667-4/fulltext)
    • “Kawasaki Disease: From Initial Discovery to Genetic Insights” – Published in the journal Circulation Research (https://www.ahajournals.org/doi/full/10.1161/CIRCRESAHA.119.315576)

  • Resources for additional genetic and disease information:

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