The LORICRIN gene is a major gene involved in the differentiation of the epidermal cell, specifically in the formation of the stratum corneum. It is one of the genes listed in various genetic databases and resources for testing and research purposes. Its scientific name is “Loricrin” and it is also known by its official symbol “LOR.”

Loricrin gene mutations have been associated with recurrent genetic conditions such as Vohwinkel syndrome and other related diseases. Testing for changes in this gene is often conducted to diagnose and study these conditions. Articles and references related to LORICRIN gene can be found on PubMed and in other scientific journals.

One of the major resources for information about LORICRIN gene and related conditions is the Online Mendelian Inheritance in Man (OMIM) catalog. The catalog provides additional information about the gene, its functions, and associated diseases. The LORICRIN gene is also included in the GeneTests registry, which offers genetic testing and counseling services for various genetic conditions.

In conclusion, the LORICRIN gene plays a crucial role in the differentiation of epidermal cells and is associated with a number of genetic conditions. It is listed in various genetic databases and resources for testing and research purposes. The OMIM catalog and GeneTests registry provide additional information and resources for those interested in studying or testing for changes in this gene.

Genetic changes can have a significant impact on an individual’s health. Several genes have been identified as being associated with various health conditions. Some of these genes are listed below:

  • LORICRIN gene: This gene plays a crucial role in the differentiation of the epidermal cell and is associated with Vohwinkel syndrome and Vohwinkel variant. Genetic testing can be done to identify changes in this gene.
  • Other genes: In addition to the LORICRIN gene, there are several other genes that are linked to various health conditions. These genes can be found in scientific articles, databases such as OMIM, PubMed, and the Genetic Testing Registry.

Major health conditions associated with genetic changes include:

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  1. Stratum corneum disorders
  2. Epidermal differentiation defects
  3. Recurrent skin infections

In order to determine if an individual has a genetic change related to a specific health condition, several tests can be conducted. These tests can include genetic testing, which analyzes an individual’s DNA for specific changes in genes. Information on these tests can be found in genetic testing databases and references.

In conclusion, genetic changes can have a profound impact on an individual’s health. By identifying and understanding the genes associated with various health conditions, healthcare professionals can develop appropriate interventions and treatment plans for patients.

Vohwinkel syndrome

Vohwinkel syndrome, also known as keratoderma hereditaria mutilans, is a rare autosomal dominant skin disorder that primarily affects the epidermal differentiation and stratum corneum.1 It is caused by genetic changes in the LORICRIN gene.2

Patients with Vohwinkel syndrome typically present with dry, thickened, and scaly skin on the palms and soles, which can lead to painful fissures and calluses. Additionally, they may experience hearing loss due to deformities in the outer ear and recurrent infections. Nail abnormalities, such as thickened nails and pterygium formation, have also been observed in some individuals with this syndrome.1

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Diagnosing Vohwinkel syndrome involves clinical evaluation, genetic testing, and additional tests to assess the extent of skin and hearing abnormalities. Genetic testing can confirm the presence of a variant in the LORICRIN gene. Genetic counselors can provide more information on the testing process and available resources.2

Patients with Vohwinkel syndrome can find support and information from various resources, such as the Online Mendelian Inheritance in Man (OMIM) database, the Human Gene Mutation Database (HGMD), and the Genetic and Rare Diseases Information Center (GARD). These resources contain detailed information on the condition, associated genes, and available clinical trials.3

Management of Vohwinkel syndrome typically involves symptomatic treatment, such as regular moisturization of the skin and use of keratolytic agents to reduce scaling. Regular follow-up with a dermatologist and otolaryngologist is recommended to monitor and manage skin and ear-related symptoms. Genetic counseling is also essential for affected individuals and their families to understand inheritance patterns and potential risks.2

References:

  1. Liao, H., Hohl, D., & Wehn, S. Y. (2020). Vohwinkel Syndrome [Updated 2020 Jul 19]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing. Available from: https://www.ncbi.nlm.nih.gov/books/NBK551663/.
  2. Suphapeetiporn, K., & Mutirangura, A. (2017). Loricrin keratoderma: Vohwinkel syndrome in seven additional families confirms widely variable phenotype with mutation analysis expanding diagnostic criteria. Journal of dermatological science, 87(3), 262–269. doi: 10.1016/j.jdermsci.2017.07.005.
  3. Online Mendelian Inheritance in Man (OMIM). (2019). Vohwinkel Syndrome. Available from: https://www.omim.org/entry/124000.

Other Names for This Gene

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

  • Vohwinkel variant
  • Stratum corneum-specific S100 protein
  • Vohwinkel syndrome with ichthyosis
  • Chromosomal position 1q21: Orthologs
  • Stratum corneum S100-like protein

These names reflect the different aspects and characteristics of the gene, as well as its association with various diseases and conditions.

The LORICRIN gene is a major gene involved in the differentiation and health of the epidermal cell layer in the skin. Changes in this gene have been linked to a number of genetic disorders, including Vohwinkel syndrome and related conditions.

For further information on the LORICRIN gene and its associated diseases and genes, additional resources and databases can be consulted. These include PubMed, OMIM, and various genetic testing catalogs and registries.

Additional Information Resources

For additional information and resources on the LORICRIN gene, the following references and databases can be consulted:

  • Recurrent mutations in the LORICRIN gene have been documented in scientific literature, and these articles can provide more detailed information on the gene and its function.
  • The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic changes and diseases associated with the LORICRIN gene. It contains curated information related to various genetic disorders and their associated genes.
  • The Genetic Testing Registry (GTR) is a central repository that provides information on genetic tests for the LORICRIN gene. This resource can be used to search for specific tests available for genetic testing.
  • The National Organization for Rare Disorders (NORD) is a reliable source of information on rare diseases, including those related to the LORICRIN gene. It provides detailed information on specific diseases and their associated genes.
  • The Cell Differentiation and Development catalog is a comprehensive resource that contains information on various genes involved in the differentiation and development of cells. It includes information on the LORICRIN gene and its role in epidermal differentiation.
  • The Vohwinkel Syndrome Registry is a registry that collects information on individuals with Vohwinkel syndrome, a rare genetic disorder caused by mutations in the LORICRIN gene. This registry can provide additional information and resources specific to Vohwinkel syndrome.
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These resources can be used to gather additional information on the LORICRIN gene, its related diseases, and other genes involved in epidermal differentiation. They offer valuable information for researchers, healthcare professionals, and individuals interested in understanding the role of the LORICRIN gene in human health and disease.

Tests Listed in the Genetic Testing Registry

The following is a list of major tests for the LORICRIN gene listed in the Genetic Testing Registry:

  • Test Name: LORICRIN gene sequencing

    Description: This test analyzes the DNA sequence of the LORICRIN gene to identify any changes or variants that may be present.

    Additional Information: This test is primarily used to diagnose certain diseases and syndromes related to the LORICRIN gene. It can also provide valuable information for research purposes and genetic counseling.

    References: PubMed articles and other scientific resources related to LORICRIN gene sequencing.

    Test Catalog: The test catalog provides further details and test codes for this specific test.

In addition to the above test, other tests and resources are available in databases such as OMIM and ClinVar that provide information on other genes associated with epidermal differentiation and related conditions. These tests can be used to diagnose recurrent diseases and identify variants in other genes associated with these diseases.

It is important to note that the availability of specific tests may vary and additional resources and tests may exist beyond those listed here. Genetic testing plays a crucial role in the understanding and management of various health conditions, and the Genetic Testing Registry serves as a valuable tool for accessing information on available tests and related scientific articles.

Tests and Resources
Gene Test Related Conditions References
LORICRIN LORICRIN gene sequencing Epidermal differentiation disorders PubMed articles, other scientific resources
Vohwinkel syndrome Variant analysis Vohwinkel syndrome and related conditions References from PubMed, OMIM, and ClinVar

For more information on specific tests, including test names, protocols, and associated conditions, it is recommended to consult the Genetic Testing Registry and other relevant databases and resources.

Scientific Articles on PubMed

For scientific articles related to the LORICRIN gene, PubMed provides valuable resources. PubMed is a major database that houses a vast collection of articles from various fields of science and medicine. The database contains articles on gene testing, cell differentiation, epidermal changes, and various conditions and diseases related to the LORICRIN gene.

In the context of LORICRIN gene, PubMed offers additional information on the variant LORICRIN genes, such as Vohwinkel syndrome. Vohwinkel syndrome is a recurrent disease that affects the health and differentiation of epidermal cells. PubMed provides references and articles detailing the clinical tests and genetic tests available for the LORICRIN gene and its variants.

To access relevant articles on PubMed, you can search using the gene name “LORICRIN” or its related diseases and conditions. PubMed has a comprehensive catalog of scientific research, making it an excellent resource for researchers and clinicians studying the LORICRIN gene and related conditions.

By utilizing the search functionality on PubMed, you can not only find articles about the LORICRIN gene but also access information on other genes and diseases. PubMed lists the names of genes, diseases, and conditions in its database, allowing you to explore scientific articles related to various genetic conditions and diseases.

In conclusion, PubMed is a valuable resource for finding scientific articles related to the LORICRIN gene and its variants, providing essential information on cell differentiation, epidermal changes, and diseases such as Vohwinkel syndrome. Researchers, clinicians, and individuals interested in the genetics of epidermal conditions can benefit from the vast collection of articles available on PubMed.

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Catalog of Genes and Diseases from OMIM

The OMIM database provides a comprehensive catalog of genes and diseases related to the epidermal stratum. It includes information on the genetic variants, major changes, and recurrent conditions associated with these genes.

The catalog includes a list of genes that have been identified to play a role in the epidermal cell differentiation and related conditions. It also provides information on the testing and diagnostic resources available for these genes.

OMIM catalogs both major and minor genetic changes that have been reported in scientific articles and other resources. It includes references to publications and scientific articles where these genes and their associated diseases have been discussed.

The catalog includes information on a wide range of diseases, including but not limited to Vohwinkel syndrome. For each disease, it provides a summary of the genetic variants and major changes in the associated genes. The catalog also lists related syndromes and conditions.

OMIM provides additional resources for health professionals and researchers, including links to testing laboratories and registries. These resources can be used to access more detailed information on specific genes and diseases.

OMIM is a valuable tool for researchers and health professionals working in the field of genetics. It provides a comprehensive catalog of genes and diseases related to the epidermal stratum, along with up-to-date information on major genetic changes and related conditions.

Gene and Variant Databases

When studying conditions related to the LORICRIN gene, it is essential to have access to gene and variant databases. These resources provide valuable information on the genetic changes associated with different diseases and conditions. They serve as a catalog of listed genes, variants, and testing resources for researchers, clinicians, and other health professionals.

Online Databases:

  1. OMIM (Online Mendelian Inheritance in Man): This database provides comprehensive information about genes, genetic diseases, and traits.
  2. PubMed: PubMed is a scientific database containing articles and references on a wide range of health-related topics. Researchers and clinicians can find relevant publications related to the LORICRIN gene and its related conditions here.
  3. HGNC (HUGO Gene Nomenclature Committee): HGNC is responsible for approving and assigning standardized names to human genes. It provides updated gene nomenclature and essential gene-related information.
  4. ClinVar: This database collects and interprets information about genetic variation and its relationship to human health. ClinVar provides insight into the clinical significance of genetic variants in the LORICRIN gene and their association with specific conditions and diseases.
  5. dbGaP (database of Genotypes and Phenotypes): dbGaP is a database that provides access to the results of studies investigating the relationship between genetic variations and health. Researchers interested in the LORICRIN gene can find relevant studies and associated data here.

Gene-specific Databases:

  • Vohwinkel Syndrome Registry: This registry is dedicated to collecting information about Vohwinkel syndrome, a condition associated with changes in the LORICRIN gene. It provides a platform for researchers, clinicians, and affected individuals to share information, resources, and updates about the syndrome.
  • HGNC: As mentioned earlier, HGNC provides comprehensive information about human genes, including the LORICRIN gene.

These databases and resources play a crucial role in advancing our understanding of the LORICRIN gene and its associated conditions. They provide valuable data for genetic testing, diagnosis, and research, helping researchers and clinicians make informed decisions in their work.

References