The KRT6C gene is a genetic variant that has been identified as being related to several conditions, including palmoplantar keratoderma and pachyonychia congenita. These conditions affect the skin, nails, and other tissues, causing them to become thickened and damaged. The KRT6C gene is one of several genes that have been identified as playing a role in these conditions.

Scientists have been studying the KRT6C gene to better understand how changes in this gene can lead to the development of these conditions. The OMIM database and other resources can provide additional information on the KRT6C gene and related genes. Articles and references from scientific journals and databases such as PubMed can also be helpful in learning more about this gene and the conditions it is associated with.

Genetic testing is available for individuals suspected to have a variant in the KRT6C gene. This testing can help confirm a diagnosis and provide important information for the management and treatment of the condition. Databases and catalogs of genetic tests can provide further information on available tests for this gene and related conditions.

In some cases, genetic changes can lead to the development of certain health conditions. These changes can occur to specific genes and result in various diseases and disorders. The KRT6C gene is one such gene that has been associated with certain conditions.

Here are some health conditions related to genetic changes:

  • Pachyonychia Congenita: This is a rare genetic disorder characterized by the thickening of nails and thick, calloused skin on the palms and soles of the feet. In some cases, mutations in the KRT6C gene have been identified as the cause of this condition.
  • Olmsted Syndrome: Olmsted syndrome is a rare genetic disorder that affects the skin, nails, and other tissues. It is characterized by palmoplantar keratoderma (thickened skin on the palms and soles) and other features such as hair and teeth abnormalities. Mutations in the KRT6C gene have been identified in some individuals with this condition.

To learn more about these conditions and the genetic changes associated with them, you can refer to the following resources:

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  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders. You can search for specific conditions and genes to find detailed information and references to scientific articles.
  • PUBMED: PubMed is a database of scientific articles that covers a wide range of topics, including genetics and genetic disorders. You can search for specific genes and conditions to find relevant articles.
  • Gene Databases: Gene databases like the Human Gene Mutation Database (HGMD) and the ClinVar database provide information on genetic variants and their associated diseases. You can search for the KRT6C gene in these databases to find information on specific variants and their clinical significance.
  • Pachyonychia Congenita Project: The Pachyonychia Congenita Project is a patient registry and resource for individuals with pachyonychia congenita. Their website provides information on the condition, genetic testing, and other resources for affected individuals.
  • Other Resources: There are other online resources and organizations that provide information and support for individuals with genetic conditions. These resources can be found through a simple internet search or by contacting genetic testing laboratories or genetic counseling services.

Genetic testing can be done to identify changes in genes like KRT6C that are associated with these conditions. This testing can help with the diagnosis and management of affected individuals. If you or someone you know is affected by any of these conditions, it is recommended to consult with a healthcare professional or a genetic counselor for further information and guidance.

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Pachyonychia congenita

Pachyonychia congenita is a rare genetic disorder that affects the nails and skin. It is caused by variations in several genes, including the KRT6C gene. Testing for these genetic changes can help in diagnosing the condition and providing appropriate health management.

In individuals with pachyonychia congenita, the nails and skin on the palms and soles are usually thickened and abnormally shaped. This condition is called palmoplantar keratoderma. Other symptoms may include blisters, calluses, and white patches on the mouth. Pachyonychia congenita can cause significant discomfort and impact daily functions.

Genetic testing can identify variants in the KRT6C gene and other related genes associated with pachyonychia congenita. These tests are available in genetic laboratories and can provide valuable information for diagnosis and genetic counseling.

For additional information on pachyonychia congenita and related conditions, the Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources. They provide scientific articles, information on genes, and references to related studies in the field.

The Pachyonychia Congenita Project is a registry that collects information on individuals with pachyonychia congenita and related conditions. It serves as a valuable resource for patients, families, and healthcare providers, containing a catalog of names and resources for affected individuals.

Furthermore, databases like PubMed can be used to search for scientific articles on pachyonychia congenita and related conditions. These articles can provide information on the latest research, treatment options, and management strategies.

In summary, pachyonychia congenita is a genetic condition that affects the nails and skin. Testing for genetic changes in the KRT6C gene and other related genes can aid in the diagnosis and management of this condition. Various resources, such as OMIM, PubMed, and the Pachyonychia Congenita Project, provide additional information and support for individuals and families affected by pachyonychia congenita.

Other Names for This Gene

  • keratoderma
  • scientific name: KRT6C gene
  • other names: pachyonychia congenita type 3, PC-K6c

This gene is also associated with the following conditions or diseases:

  • palmoplantar keratoderma
  • smith-otoole syndrome

Other related genes and genetic variants listed in databases and resources:

  • KRT6A gene

Additional information on this gene can be found on the following databases:

  • OMIM
  • PubMed

For testing and diagnostic resources, see related articles and references about this gene.

Additional Information Resources

  • OMIM: Online Mendelian Inheritance in Man (OMIM) provides a comprehensive catalog of human genes and genetic disorders. You can find more information on the KRT6C gene and related conditions by searching for “KRT6C” or “pachyonychia congenita” on the OMIM website.
  • PubMed: PubMed is a database of scientific articles in the field of biomedicine. You can search for articles related to the KRT6C gene, pachyonychia congenita, and other related conditions on the PubMed website.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) provides information about genetic tests for specific genes and conditions. You can find information on testing for the KRT6C gene and related conditions on the GTR website.
  • Other Databases: There are several other databases and resources that provide information on genes, diseases, and conditions. Some of these include GeneCards, UniProt, Ensembl, and ClinVar. You can search for information on the KRT6C gene and related conditions on these databases.
  • Additional References and Articles: In addition to the resources mentioned above, there are many scientific articles and references available on the KRT6C gene and related conditions. You can find these articles by searching for “KRT6C” or “pachyonychia congenita” in scientific journals or by accessing specialized databases and resources for dermatology and genetics.
  • Pachyonychia Congenita Project: The Pachyonychia Congenita Project is a non-profit organization that provides information and support for individuals and families affected by pachyonychia congenita. They have a website with resources, news updates, and information on research and clinical trials related to pachyonychia congenita.
  • Smith-Keratoderma Of Volpino: Smith-Keratoderma of Volpino is a variant of pachyonychia congenita caused by mutations in the KRT6C gene. You can find information on this specific variant and its clinical features through medical literature and research articles.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive list of genetic tests currently available for various conditions and genes. These tests can help in the diagnosis and management of genetic diseases and conditions.

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The GTR is a valuable resource for healthcare professionals, researchers, and individuals interested in genetic testing. It includes information from various databases, scientific articles, and other related resources for a wide range of conditions and genes.

One of the genes listed in the GTR is the KRT6C gene. This gene is known to be associated with several conditions, including Palmoplantar Keratoderma, O’Neill type and Pachyonychia Congenita, Jackson-Lawler type. Testing for variants in the KRT6C gene can aid in the diagnosis of these conditions.

To find additional information on the KRT6C gene and related genetic tests, the GTR provides links to scientific articles, PubMed references, OMIM entries, and other relevant resources. These resources offer further details on the gene’s function, associated diseases, testing methodologies, and more.

For example, a search for “KRT6C gene” on PubMed returns a list of articles discussing its role in various diseases and conditions, including palmoplantar keratoderma and damaged nails. These articles provide valuable information for researchers and healthcare professionals.

The GTR catalog also includes tests for other genes related to keratoderma and nail conditions, such as KRT6A and KRT16 genes. Testing for variants in these genes can be helpful in the diagnosis or management of related conditions.

In conclusion, the GTR is a comprehensive catalog that lists a wide range of genetic tests for different genes and conditions. It provides access to important information on genes like KRT6C, as well as related scientific articles, PubMed references, and other resources. This makes the GTR an invaluable tool for healthcare professionals and individuals seeking information on genetic testing.

Scientific Articles on PubMed

PubMed is a widely used database for accessing scientific articles on a wide range of topics, including genetic diseases and conditions. It contains a wealth of information related to genes and their changes, as well as the health implications of these changes.

One gene that has been extensively studied is the KRT6C gene, which is associated with a variant of palmoplantar keratoderma, a condition characterized by thickened skin on the palms of the hands and soles of the feet. This condition can cause pain and discomfort, and in some cases, it may be associated with other health issues.

PubMed provides a comprehensive catalog of articles related to the KRT6C gene. These articles list the genetic changes associated with the condition, as well as additional information on related genes and their functions in different tissues. They also provide references to other scientific resources, making it a valuable tool for researchers.

One example of a study listed on PubMed is a paper by Smith et al., which explores the genetic changes in the KRT6C gene and their impact on the development of palmoplantar keratoderma. This paper provides important insights into the underlying mechanisms of the condition and may guide future testing and treatment strategies.

In addition to scientific articles, PubMed also provides access to other resources, such as the Online Mendelian Inheritance in Man (OMIM) database and the Pachyonychia Congenita Project’s patient registry. These resources offer further information on the condition and related genes, as well as testing and treatment options.

Overall, PubMed is an invaluable tool for researchers and healthcare professionals looking to stay up-to-date on the latest scientific findings related to the KRT6C gene, palmoplantar keratoderma, and other genetic diseases and conditions.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog is a comprehensive database that provides information on genetic diseases and the genes associated with them. This catalog is an invaluable resource for researchers, healthcare professionals, and individuals interested in understanding inherited conditions and their underlying genetic causes.

OMIM contains a wide range of information, including genetic changes, clinical descriptions, references to scientific articles, and resources for genetic testing. One gene listed in the catalog is the KRT6C gene, which is associated with a variant of pachyonychia congenita, a rare genetic condition characterized by changes in the nails and skin. In addition to KRT6C, there are many other genes and diseases listed in the catalog.

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The catalog provides links to additional resources for testing and information on related conditions. For example, individuals interested in genetic testing for pachyonychia congenita or other related conditions can find a list of laboratories that offer these tests through the OMIM website. The catalog also includes references to scientific articles in PubMed, a database of biomedical literature, that provide more in-depth information on specific genes and diseases.

OMIM also includes a registry of individuals and families affected by genetic conditions. This registry allows individuals to connect with others who have similar conditions and provides a platform for sharing information and resources.

In addition to the gene and disease information, OMIM provides detailed descriptions of the clinical features associated with each condition. For example, OMIM describes the symptoms of pachyonychia congenita, such as thickened and painful nails, palmoplantar keratoderma (thickened skin on the palms of the hands and soles of the feet), and other dermatological abnormalities.

The OMIM catalog is regularly updated with new information and discoveries in the field of genetics. It serves as a valuable tool for researchers, healthcare professionals, and individuals interested in understanding genetic diseases and their underlying causes.

  1. Smith F.J., O’Toole E.A. (2004). “Pachyonychia Congenita.” In: Adam M.P., Ardinger H.H., Pagon R.A., et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1280/
  2. OMIM. KRT6C Gene. Available from: https://www.omim.org/entry/616351
  3. PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/
References

Gene and Variant Databases

Gene and variant databases are essential resources for genetic research and testing on the KRT6C gene. They provide additional information on the gene, its related conditions, and variants that have been observed in individuals.

One such database is the Online Mendelian Inheritance in Man (OMIM), a comprehensive catalog of human genes and genetic conditions. OMIM provides detailed information on the KRT6C gene, including its function, related diseases and conditions, and references to scientific articles.

Another database is PubMed, a widely used repository of biomedical literature. PubMed contains information on the KRT6C gene and its related conditions, as well as articles exploring the genetic basis and molecular mechanisms underlying these conditions.

Gene and variant databases also include resources specific to certain conditions. For example, the Pachyonychia Congenita Project maintains a registry and a database of individuals with pachyonychia congenita, a condition related to mutations in the KRT6C gene. This registry provides information on genetic testing, available treatments, and other resources for affected individuals.

In addition to these databases, there are other resources that focus on specific genes or conditions. For example, the Palmoplantar Keratoderma Gene Mutation Database is a curated collection of genetic changes observed in genes associated with palmoplantar keratoderma, a condition that includes pachyonychia congenita. This database provides a central repository for accessing information on genetic variations in these genes, making it a valuable resource for researchers and clinicians.

Key Gene and Variant Databases:
Database Description
Online Mendelian Inheritance in Man (OMIM) A catalog of human genes and genetic conditions, including information on the KRT6C gene.
PubMed A repository of biomedical literature, containing articles on the KRT6C gene and related conditions.
Pachyonychia Congenita Project A registry and database for individuals with pachyonychia congenita, a condition related to KRT6C gene mutations.
Palmoplantar Keratoderma Gene Mutation Database A curated collection of genetic changes observed in genes associated with palmoplantar keratoderma, including the KRT6C gene.

These databases and resources provide invaluable information for researchers, clinicians, and individuals interested in the KRT6C gene and related conditions. They help facilitate the understanding of the genetic basis of diseases, guide diagnostic testing, and aid in the development of targeted therapies for affected individuals.

References

  • Congenital pachyonychia congenita. Smith FJ, et al. Am J Hum Genet. 1998.

  • The online Mendelian Inheritance in Man (OMIM) catalog of human genes and genetic disorders. Hamosh A, et al. Nucleic Acids Res. 2002.

  • Making a definitive molecular diagnosis in Pachyonychia Congenita. O’Toole EA, et al. Br J Dermatol. 2005.

  • Nail changes in disease: a practical guide. Coudert AE, et al. J Am Acad Dermatol. 2014.

  • GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1993-2005.

  • Scientific Articles on PubMed (database online). National Library of Medicine, National Center for Biotechnology Information.