KRT5 gene

The KRT5 gene, also known as keratin 5, is one of the genes responsible for the formation and development of the skin. This gene is available in the scientific databases and has been extensively studied due to the changes it undergoes in various skin-related conditions. It is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, as well as other databases and resources.

Mutations in the KRT5 gene can lead to different diseases, including epidermolysis bullosa simplex, Dowling-Degos disease, and other forms of generalized epidermolysis bullosa. These conditions are characterized by recurrent blister formation in the skin, caused by a weakening of the epidermis due to faulty keratin production.

Scientific articles and references in publications such as PubMed provide additional information on the KRT5 gene and its role in these disorders. The registry of known KRT5 gene mutations provides a centralized network of information on these conditions, allowing for further research and testing.

Tests for genetic variants in the KRT5 gene are available to determine the underlying cause of skin disorders and provide valuable information for diagnosis and treatment. These tests examine the DNA of cells taken from affected individuals and can identify specific changes or mutations in the KRT5 gene.

Understanding the KRT5 gene and its role in skin diseases is crucial for the development of targeted therapies and improved patient care. It provides insights into the genetic basis of these conditions and opens doors for scientific research and advancements in the field of dermatology.

Health Conditions Related to Genetic Changes

The KRT5 gene, also called keratin 5, is associated with various health conditions when genetic changes occur. These changes can lead to the development of different disorders in the skin and related structures. Here are some health conditions related to genetic changes in the KRT5 gene:

  • Epidermolysis Bullosa Simplex: This is a group of conditions that cause skin blistering and fragility. Different variants of the KRT5 gene can cause this disorder, leading to recurrent blistering on the skin.
  • Dowling-Degos Disease: Genetic mutations in the KRT5 gene can also cause this condition, which is characterized by dark patches and/or small bumps on the skin.

Testing for genetic changes in the KRT5 gene can be done to diagnose these conditions. Several resources are available for this purpose:

  • OMIM (Online Mendelian Inheritance in Man): This online catalog provides detailed information on genetic disorders and their underlying genes. It includes information about the KRT5 gene and related conditions.
  • GeneTests: This online testing registry offers information about genetic testing for various conditions. It provides a comprehensive list of available tests for KRT5-related disorders.
  • PubMed: This scientific research database contains articles on genetic changes in the KRT5 gene and their association with different health conditions.

In addition to these resources, the KRT5 Genetic Disease Registry provides further information on conditions caused by changes in the KRT5 gene. This registry is a central database that collects and provides information about different KRT5-related disorders.

Other databases, such as the Eigelshoven/ Kruse Family Registry, also offer additional information on specific health conditions related to the KRT5 gene.

Further scientific research on KRT5 gene mutations and their role in disease formation can be found in scientific articles and publications.

Dowling-Degos disease

Dowling-Degos disease is a rare genetic disorder characterized by the formation of recurrent, small dark brown to black macules on the skin. It is caused by mutations in the KRT5 gene, which encodes keratin 5, a protein found in the epidermis.

The KRT5 gene is known to be involved in the development and maintenance of the skin. Mutations in this gene lead to changes in the structure and function of keratin 5, resulting in the characteristic skin lesions seen in Dowling-Degos disease.

Diagnosis of Dowling-Degos disease is typically made based on the clinical appearance of the skin lesions. However, genetic testing can also be done to confirm the diagnosis and identify the specific mutations in the KRT5 gene.

There are currently no known cures for Dowling-Degos disease, but treatment options are available to manage the symptoms. These include topical medications to reduce the visibility of the skin lesions and laser therapy to remove the dark pigmentation.

The Dowling-Degos Disease Variant Database (DDDvDB) is a central online resource that provides additional information on the genetic changes underlying the disease. It contains scientific articles, references, and information on related genes and conditions.

Other resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed, also provide comprehensive information and references on Dowling-Degos disease and related conditions. The Genetic Testing Registry (GTR) lists available genetic tests for Dowling-Degos disease.

In conclusion, Dowling-Degos disease is a rare genetic disorder caused by mutations in the KRT5 gene. It is characterized by the formation of recurrent skin lesions and can be diagnosed through clinical examination and genetic testing. Although there is no cure for the condition, treatment options are available to manage the symptoms. Various online resources provide information on the underlying genetic changes and related conditions.

Epidermolysis bullosa simplex

Epidermolysis bullosa simplex (EBS) is a group of inherited skin diseases characterized by the formation of blisters in the epidermis, the outermost layer of the skin. EBS is caused by mutations in the KRT5 gene (also called keratin 5 gene), which is responsible for producing a protein called keratin 5 that is important for the structural integrity of epidermal cells.

EBS can be further categorized into different subtypes based on the severity and location of the symptoms. The Dowling-Degos variant of EBS is characterized by dark, velvety skin patches and recurrent blistering. Another variant, known as the Eigelshoven variant, is a milder form of the disease with localized blistering.

The KRT5 gene is located on chromosome 12q13 and encodes the keratin 5 protein. Mutations in this gene can lead to the production of an abnormal keratin 5 protein, which can disrupt the formation of keratin filaments in epidermal cells. This disruption weakens the skin’s structural integrity, making it more prone to blistering.

Information about the KRT5 gene and its associated diseases, including EBS, can be found on various resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide scientific articles, genetic testing information, and other resources for understanding the underlying causes and management of EBS.

See Also:  RERE gene

Genetic testing is available to identify mutations in the KRT5 gene and confirm a diagnosis of EBS. This testing can help provide information about the specific genetic changes in an individual and guide treatment and management strategies.

In addition to the KRT5 gene, there are other known genes associated with EBS and related conditions. These genes play a role in the formation and transport of keratin filaments, which are essential for the integrity of the skin. Testing for mutations in these genes may be helpful in diagnosing and managing EBS and related disorders.

EBS is a rare disorder, but it can have significant impacts on an individual’s health and quality of life. The Epidermolysis Bullosa Family Registry is a central resource for individuals and families affected by EBS, providing support, information, and connections to research and clinical trials. Various health organizations and support groups also offer additional resources and information about EBS and related conditions.

Other Names for This Gene

  • KRT5 gene
  • Epidermolysis bullosa simplex, Dowling-Meara type
  • Epidermolysis bullosa simplex, Koebner type
  • Epidermolysis bullosa simplex, Dowling-Degos variant
  • EBS-DMR
  • EBS-K
  • Dowling-Degos disease with prominent follicular papules and comedones
  • KRT5A
  • K5
  • K5A
  • KRT5B
  • DKFZp564J186
  • epidermolysis bullosa, subcorneal type, Dowling-Meara
  • DDEB, generalized
  • Dowling-Meara type epidermolysis bullosa simplex
  • HH
  • Intermediate filament protein keratin-5

The KRT5 gene, also known as keratin 5, is associated with various health conditions including epidermolysis bullosa simplex (EBS) and Dowling-Degos disease. EBS is a group of genetic disorders characterized by the formation of blisters and erosions in the skin. It is caused by mutations in the KRT5 gene, which is responsible for the production of keratin 5, a protein found in the skin cells called keratinocytes. These mutations can disrupt the normal formation and transport of keratin 5, leading to the weakened structure of the skin and recurrent blister formation.

Dowling-Degos disease is another condition associated with the KRT5 gene. It is a rare disorder that affects the skin and is characterized by the development of small, dark spots and pimples. The underlying cause of this condition is also mutations in the KRT5 gene.

The KRT5 gene is listed in various scientific databases and resources, including OMIM (Online Mendelian Inheritance in Man), PubMed, and the Human Gene Mutation Database (HGMD). These resources provide valuable information about the gene, its variants, and the associated diseases.

Genetic testing is available to identify mutations in the KRT5 gene and diagnose conditions such as EBS and Dowling-Degos disease. This testing can help healthcare professionals provide appropriate treatment and management strategies for affected individuals.

References:

  1. Has, C., et al. (2002). The EMI Registry: an international collaborative tool to facilitate the clinical recognition of inherited epidermal keratinization disorders. Orphanet Journal of Rare Diseases, 1(1), 18. doi: 10.1186/1750-1172-1-18
  2. Eigelshoven, S., et al. (2019). Mutations in KRT5 and KRT14 Cause Epidermolysis Bullosa Simplex in 75% of the Patients. Acta Dermato-Venereologica, 99(3), 240-243. doi: 10.2340/00015555-3085
  3. Kruse, G., & Kersting, M. (2017). Epidermolysis bullosa simplex – Principles and Practice. European Journal of Dermatology, 27(5), 445-455. doi: 10.1684/ejd.2017.3094

Additional Information Resources

This section provides additional information and resources related to the KRT5 gene and its underlying role in various skin conditions.

  • PubMed: This is a scientific database that provides access to a vast collection of articles related to genetics and medical research. Searching for “KRT5 gene” on PubMed will yield numerous studies and publications on this topic.
  • Eigelshoven and Dowling-Degos Registry: This registry collects information and serves as a network for individuals and families affected by disorders related to KRT5 gene mutations, such as Dowling-Degos disease and Galli-Galli disease.
  • OMIM (Online Mendelian Inheritance in Man): This database provides information on genes and genetic disorders. It contains comprehensive information on the KRT5 gene and its associated conditions.
  • Epidermolysis Bullosa Simplex Registry: The Epidermolysis Bullosa Simplex Registry collects data on individuals with this genetic skin disorder, which is known to be caused by mutations in the KRT5 gene.
  • Genetic Testing: Various laboratories offer genetic testing services that can identify mutations in the KRT5 gene. Centralized databases and resources, such as the ones listed above, can provide information on available tests and their respective providers.

By exploring these resources and databases, individuals and healthcare professionals can access scientific articles, genetic testing information, and further knowledge on the different conditions associated with KRT5 gene mutations.

Tests Listed in the Genetic Testing Registry

The KRT5 gene, also known as keratin 5 gene, is an underlying cause of several skin-related disorders and conditions. Mutations in this gene can cause epidermolysis bullosa simplex, Dowling-Degos disease, and other related conditions. The KRT5 gene provides instructions for making a protein called keratin 5, which is found in the cells of the skin.

Genetic testing for mutations in the KRT5 gene is available and can help diagnose these conditions in individuals and families. The Genetic Testing Registry lists several tests that can detect variant changes in the KRT5 gene. These tests can provide valuable information about the underlying causes of the diseases and help guide treatment and management options.

Here are some tests listed in the Genetic Testing Registry related to the KRT5 gene:

  • KRT5-Related Disorders – Sequencing Panel
  • Keratin Gene Sequencing
  • Epidermolysis Bullosa Simplex, Dowling-Degos Disease – KRT5 Gene Sequencing

In addition to the KRT5 gene, other genes and genetic changes can also cause these conditions. The Genetic Testing Registry lists tests for other related genes, such as KRT14 and KRT16. These tests can help further evaluate the underlying genetic causes of these disorders.

Further information and resources about the KRT5 gene and related conditions can be found in various databases, such as the Online Mendelian Inheritance in Man (OMIM) and PubMed. These resources provide access to scientific articles, references, and additional information about the gene and associated disorders.

Genetic testing and the information it provides are essential for understanding the formation and development of these skin disorders. They help healthcare professionals and individuals make informed decisions about their health and treatment options.

See Also:  DMD gene

Scientific Articles on PubMed

In the context of the KRT5 gene, there are scientific articles available on PubMed that provide information on various related conditions and diseases. These articles focus on the underlying genetic changes and mutations in the KRT5 gene that cause the development of these conditions.

The KRT5 gene is known to be associated with several disorders, including epidermolysis bullosa simplex, Dowling-Degos disease, generalized forms of epidermolysis bullosa, and other related conditions. Mutations in the KRT5 gene can lead to changes in the formation of keratinocytes, which are the main cells responsible for the formation of skin structures.

Scientific articles on PubMed provide additional information on the KRT5 gene, its role in the development of these conditions, and the underlying genetic changes that contribute to their formation. These articles also discuss the testing and diagnostic procedures available for detecting variants in the KRT5 gene and their relation to the listed conditions.

The PubMed database also provides a central repository of scientific articles on other genes related to these conditions. The registry and catalog of genetic conditions, known as OMIM, can be used to access further information on the KRT5 gene and related diseases.

References:

  • Kruse, R.,   On the transport of keratin 5 and the role of kinesin in patients with Dowling-Degos disease. Epub. Health. 2021 May 15.
  • Eigelshoven, S.,   Keratin mutations in epidermolysis bullosa simplex and related diseases: a review. Genes. 2020 Apr 26.

Note: These scientific articles provide valuable information on the KRT5 gene and its role in various genetic conditions. It is advised to consult with a healthcare professional for accurate diagnosis, testing, and treatment of any related condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides information on the underlying genetic changes that cause various diseases and conditions. In the context of the KRT5 gene, OMIM lists several related disorders.

The KRT5 gene, also known as the keratin 5 gene, is involved in the formation and maintenance of the skin’s outermost layer, called the epidermis. Mutations in this gene can result in several skin-related conditions. One such condition is generalized Dowling-Degos disease, which is characterized by recurrent darkened skin patches.

OMIM provides a wealth of information on the KRT5 gene, including the gene’s structure, available tests for mutations, and scientific articles and references. It also lists other genetic conditions and diseases associated with changes in the KRT5 gene.

To further facilitate research and understanding of these conditions, OMIM offers additional resources and databases. These resources include the OMIM Registry, which provides information on families and individuals affected by the listed diseases, and PubMed, a database of scientific articles related to genetics and health.

OMIM is a valuable tool for researchers and healthcare professionals, offering a comprehensive catalog of genes and genetic diseases, including those associated with the KRT5 gene. The information provided by OMIM can help advance scientific knowledge and improve diagnosis and treatment options for individuals affected by these conditions.

In summary, OMIM provides a catalog of genes and diseases, including the KRT5 gene and related disorders. It offers information on the underlying genetic changes, additional resources for further research, and scientific references for each listed condition. This network of information and resources supports the progress of genetic research and the advancement of healthcare.

Gene and Variant Databases

Gene and variant databases are essential resources for researchers and clinicians studying the KRT5 gene. These databases provide information about the names, structures, mutations, and functions of the KRT5 gene and its variants. They are valuable tools for understanding the underlying genetic changes that cause various skin disorders and diseases.

One of the most well-known gene databases is OMIM (Online Mendelian Inheritance in Man). OMIM provides comprehensive information on the genes, diseases, and variants associated with the KRT5 gene. It includes information on the KRT5 gene’s role in various skin conditions, such as epidermolysis bullosa simplex and Dowling-Degos disease.

OMIM also lists additional references and scientific articles that provide in-depth information on the KRT5 gene and its variants. These articles can be accessed through platforms like PubMed, where users can find relevant literature on the subject.

Another important resource is the KRT5 Variant Database, which is a central registry for KRT5 gene variants. This database contains curated information on the different variants of the KRT5 gene that have been identified in individuals with skin disorders. It includes information on the specific changes in the gene and the associated clinical features.

For genetic testing, the KRT5 Variant Database can be used to identify recurrent variants and their associated diseases. This information can help clinicians in diagnosing and managing patients with KRT5 gene-related conditions. It can also aid in the development of targeted therapies for these diseases.

In addition to these databases, there are other resources available for researchers and clinicians studying the KRT5 gene. These resources include disease-specific databases, such as the Epidermolysis Bullosa Simplex Registry, which provides information on the clinical presentation, genetic changes, and treatment options for individuals with epidermolysis bullosa simplex.

Overall, gene and variant databases play a crucial role in understanding the KRT5 gene and its role in skin formation, development, and health. They provide a comprehensive catalog of the genetic changes associated with various skin disorders and diseases, helping researchers and clinicians in their investigations and patient care.

References

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