The KRT13 gene is a gene that codes for a protein called keratin 13. This protein is found in the mouth, nose, and other tissues of the body. Mutations in the KRT13 gene can lead to various health conditions, including sponge nevus and white sponge nevus. These conditions are characterized by changes in the normal form of the keratin protein.

Scientists have conducted genetic tests to study the KRT13 gene and its role in the development of these conditions. Information about the gene, including its variant forms and related diseases, can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and the GeneTests Catalog. These resources provide additional information and references to scientific articles and other genetic databases.

If you are undergoing testing for genetic changes related to KRT13 gene, it is important to consult with a healthcare provider or genetic counselor. They can provide information and guidance on the implications of these genetic changes for your health and provide guidance on any necessary further testing or treatments.

Genetic changes in the KRT13 gene have been associated with various health conditions. These changes can occur in different forms and lead to the development of specific diseases or conditions.

Scientific research has shown that mutations in the KRT13 gene can result in abnormal keratin production. Keratin is a protein that forms the structural framework of epithelial cells in the body. Changes in the KRT13 gene can affect the production and function of keratin, leading to various health conditions.

One health condition related to genetic changes in the KRT13 gene is white sponge nevus. This condition is characterized by the formation of white, thickened patches inside the mouth. It is thought to be caused by mutations that affect the structure of keratin in the oral mucosa.

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Additional health conditions related to genetic changes in the KRT13 gene may also exist, as scientific research continues to uncover new information. These conditions may manifest in different ways and affect various parts of the body.

Scientists and healthcare professionals rely on databases of genetic information, such as the Online Mendelian Inheritance in Man (OMIM) and genetic testing resources, to understand the relationship between genes like KRT13 and health conditions. These databases provide valuable resources for accessing articles, references, and other scientific information.

Genetic testing can help identify specific mutations in the KRT13 gene and provide insights into the associated health conditions. These tests are often performed in specialized laboratories and can be ordered by healthcare professionals.

It is important to note that genetic changes in the KRT13 gene may also be related to other diseases or conditions not listed here. Scientific research is constantly uncovering new information and expanding our understanding of the role of this gene in health and disease.

References and Resources
Database Information
Online Mendelian Inheritance in Man (OMIM)
  • Information on the KRT13 gene and associated health conditions
  • References to scientific articles
PubMed
  • Scientific articles on the KRT13 gene and related topics
  • Research studies and findings
Genetic Testing Registry
  • Information on genetic testing for the KRT13 gene
  • Available testing options and laboratories
  • Details on specific genetic mutations

White Sponge Nevus

White sponge nevus is a genetic condition that affects the mouth and sometimes the nose. It is also known as white sponge nevus of Cannon. This condition is caused by mutations in the KRT13 gene.

See also  Frontometaphyseal dysplasia

White sponge nevus is a rare disorder, and its exact prevalence is unknown. The condition is characterized by white, thickened patches that appear on the inside of the cheeks, gums, and sometimes the tongue. These patches typically begin to appear in childhood or adolescence and may come and go throughout life.

The genetic changes in the KRT13 gene disrupt the production of keratin, a protein that helps create the structure of the epithelial cells in the mouth and nose. Without functioning keratin, the cells do not develop properly, leading to the characteristic thickened patches seen in white sponge nevus.

White sponge nevus is usually diagnosed based on the appearance of the characteristic patches in the mouth during a physical examination. However, genetic testing can also be done to confirm the diagnosis and identify the specific mutation in the KRT13 gene.

Additionally, other tests may be done to rule out other conditions with similar symptoms, such as an oral biopsy or imaging studies. A thorough evaluation may also include assessing for other related health conditions or symptoms that may be associated with white sponge nevus.

Treatment for white sponge nevus focuses on managing the symptoms and preventing complications. Regular dental care and good oral hygiene are important to maintain oral health. In some cases, dental procedures may be needed to correct any dental abnormalities or to help manage symptoms.

Prenatal testing is available for families with a known KRT13 gene mutation who are seeking information about the genetic status of a pregnancy or family planning options.

  • OMIM Entry: White Sponge Nevus-1

References:

  1. “White Sponge Nevus.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services.
  2. “White Sponge Nevus of Cannon.” GeneReviews, National Center for Biotechnology Information.
  3. “White Sponge Nevus.” Orphanet, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disabilities (ERN-ITHACA).

Additional information and scientific articles on white sponge nevus can be found in the OMIM gene catalog, PubMed, and other genetic testing databases.

Other Names for This Gene

The KRT13 gene is also known by other names, including:

  • White sponge nevus 1
  • Keratin, type I cytoskeletal 13 protein
  • Keratin 13

In scientific articles and databases, you may find additional names and terms related to this gene. Some of them include:

  1. KRT13
  2. CK-13
  3. WSN1

These names and variations may be used in different databases and scientific resources for testing, mutation analysis, and genetic registry purposes. It is important to refer to the gene as KRT13 or by its official gene name when accessing information from these databases.

References:

  • OMIM: Online Mendelian Inheritance in Man
  • PubMed: National Library of Medicine’s database of scientific articles
  • GeneTests: A medical genetics information resource
  • Genetic Testing Registry: A centralized repository of genetic test information
  • Catalog of Genes and Diseases: A comprehensive catalog of genes and genetic conditions
  • Sponge Disease Community: A community resource for individuals with sponge nevus and related conditions

These resources can provide additional information and references on the KRT13 gene and its variants.

Additional Information Resources

For additional information about the KRT13 gene and related conditions, you may find the following resources helpful:

  • Registry: A registry for individuals with genetic changes in the KRT13 gene may provide more information and support.
  • Tests: Several genetic tests are available to detect changes in the KRT13 gene. These tests can be ordered through healthcare providers or genetic testing laboratories.
  • Scientific Articles: Many scientific articles have been published on the KRT13 gene and its role in various conditions. These articles can be found on PubMed, a database of biomedical literature.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genetic diseases and related genes, including the KRT13 gene.
  • Other Databases: Other databases such as HGMD (Human Gene Mutation Database) and ClinVar also contain information on genetic variants in the KRT13 gene.
See also  SNCA gene

These resources can provide more information on the genetic changes in the KRT13 gene, associated conditions, testing options, and other related genes. It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis, interpretation of test results, and personalized guidance.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a scientific registry that catalogues genetic tests and their associated information. It provides a comprehensive list of tests performed on the KRT13 gene, which is responsible for encoding keratin protein.

Genetic testing for the KRT13 gene is primarily done to detect mutations or changes in the gene that may lead to various conditions and diseases. Some of these conditions include white sponge nevus (WSN), a rare disorder characterized by abnormal growth in the mouth and nose.

The GTR provides a form for laboratories and other testing resources to submit information about the genetic tests they offer for the KRT13 gene. This includes the names of the tests, variant names, associated conditions or diseases, references, and any additional information that may be relevant.

There are several databases and resources that provide information on genetic testing for the KRT13 gene and related genes. These include Online Mendelian Inheritance in Man (OMIM), PubMed, and other scientific articles and references. These resources can be used to gather more information about the gene, its mutations, and associated health conditions.

Testing for KRT13 gene mutations can be beneficial for individuals with symptoms or a family history of white sponge nevus or other related health conditions. It can help in identifying the genetic cause of the condition, providing a more accurate diagnosis, and guiding appropriate treatment options.

In summary, the Genetic Testing Registry offers a valuable resource for accessing information on the various tests available for the KRT13 gene. It facilitates research and provides a central repository for genetic testing information, allowing healthcare professionals and individuals to explore the genetic basis of conditions and diseases associated with this gene.

Scientific Articles on PubMed

Genes and mutations related to KRT13:

  • Resources, databases, and information on genetic tests: OMIM, PubMed, and others
  • The nevus of genetic diseases: KRT13
  • Additional articles on KRT13-related conditions

Variant tests and the KRT13 gene:

  • Catalog of genetic tests for KRT13 mutations
  • Names and changes of the KRT13 gene variant

Testing for KRT13:

  • Sponge nose and mouth: testing for KRT13 mutation
  • Form and resources for health testing

Scientific articles listed in this registry:

  1. OMIM references on KRT13-related diseases
  2. PubMed scientific articles on the KRT13 gene
  3. Other references on KRT13 genetic conditions

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive collection of information on genetic changes and mutations associated with various health conditions. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of diseases.

OMIM, the Online Mendelian Inheritance in Man, is a database that catalogues genes and genetic diseases. It provides detailed information about genes, their variants, and the diseases they are associated with. The database is curated and regularly updated by a team of experts in the field of genetics.

For example, the KRT13 gene, which codes for a keratin protein, is listed in the OMIM catalog. Mutations in this gene can cause various genetic diseases. One such condition is white sponge nevus, a rare genetic disorder that affects the mucous membranes, particularly in the mouth and nose.

In addition to the genetic changes and mutations, the OMIM catalog also provides information on other related conditions and genetic tests available for each gene-disease association. These tests can be used for diagnostic purposes or to predict the risk of developing a particular disease.

See also  Swyer syndrome

The OMIM catalog is organized in a user-friendly manner, with genes and diseases listed alphabetically. Each gene or disease entry provides a summary of the genetic basis, clinical features, and available testing options.

For further scientific references, the OMIM catalog includes links to relevant articles from PubMed, an extensive database of biomedical literature. This allows researchers and healthcare professionals to access additional information and stay updated on the latest scientific findings.

In addition to OMIM, there are other databases and resources available that focus on specific genes or genetic diseases. These resources can provide further in-depth information and testing options for specific conditions.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool for understanding the genetic basis of diseases and facilitating research and testing in the field of genetics.

Gene and Variant Databases

Gene and variant databases are essential resources for researchers and healthcare professionals working with genetic diseases and conditions. These databases provide a wealth of information on genes, variants, and associated diseases, helping to further our understanding of the genetic basis of various health issues.

Some of the most commonly used gene and variant databases include:

  1. PubMed: PubMed is a widely used scientific database that contains a vast collection of biomedical literature. Researchers can find articles related to the KRT13 gene and its variants by searching for specific keywords or using other relevant search parameters.
  2. OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogues various genes and genetic conditions. It includes information on the KRT13 gene and its associated diseases, such as white sponge nevus.
  3. Genetic Testing Registry: The Genetic Testing Registry provides information on genetic tests and testing laboratories for various conditions, including those related to the KRT13 gene. This resource allows healthcare professionals and patients to access information about available tests and labs.
  4. Other Gene and Variant Databases: There are additional gene and variant databases specific to certain disorders or genes. These databases may include specific information on KRT13 or related genes. Researchers can explore such databases to find more targeted information for their studies.

In addition to these primary resources, researchers and healthcare professionals can also find additional information and references in scientific articles, white papers, and other related publications. These resources often provide more in-depth analyses and discussions on specific genes, variants, and associated diseases.

Overall, gene and variant databases serve as valuable tools in the field of genetics, providing comprehensive information on genes like KRT13 and their associated conditions. These resources help researchers and healthcare professionals make informed decisions about genetic testing and further studies, advancing our understanding of genetic diseases and improving patient care.

References

  • These genes are listed on OMIM, the online catalog of human inherited diseases: https://omim.org/.
  • For additional scientific articles and resources on the KRT13 gene and its related conditions, you can search the PubMed database: https://pubmed.ncbi.nlm.nih.gov/.
  • The Genetic Testing Registry (GTR) provides information about genetic tests for the KRT13 gene and other genes: https://www.ncbi.nlm.nih.gov/gtr/.
  • Health changes and conditions related to the KRT13 gene can be found in the Online Mendelian Inheritance in Man (OMIM) database: https://omim.org/.
  • The Human Gene Mutation Database (HGMD) is a comprehensive resource for genetic variants and diseases: http://www.hgmd.cf.ac.uk/ac/index.php.
  • The Human Phenotype Ontology (HPO) provides detailed information about the phenotypic characteristics associated with genetic diseases, including those caused by KRT13 gene mutations: https://hpo.jax.org/app/.
  • The Online Mendelian Inheritance in Animals (OMIA) database includes information about genetic diseases and traits in non-human species, which may be relevant for studying KRT13 gene mutations: https://omia.org/home/.
  • The Genetic and Rare Diseases Information Center (GARD) provides resources and information for individuals and families affected by rare genetic diseases, including those related to the KRT13 gene: https://rarediseases.info.nih.gov/.