KRT10 gene – Austra Health

The KRT10 gene is listed as a confetti resource in the PubMed article for ichthyosis and other related disorders. This gene is known to be associated with strong, intermediate, and hyperkeratosis conditions. It falls into the genetic network region of keratinocytes and is found in the epidermolytic layer of the skin.

Genetic testing for the variants of the KRT10 gene can provide valuable information for diagnosing and managing these conditions. Additional resources in the form of articles, databases, and registries can be found to gather more information on the gene and related diseases.

OMIM is one of the databases that catalogs scientific names for genes, and it contains references to the KRT10 gene. This information can be used for further research and testing purposes.

Health Conditions Related to Genetic Changes

Genetic changes in the KRT10 gene are associated with various health conditions. Some of these conditions include:

Ichthyosis: This is a group of genetic skin disorders characterized by dry, scaly skin. Mutations in the KRT10 gene can cause different types of ichthyosis, such as epidermolytic ichthyosis and hyperkeratosis ichthyosis.
Disorders of the Epidermis: Mutations in the KRT10 gene can also lead to disorders affecting the epidermal layer of the skin. These disorders can manifest as skin blistering, thickening, or other abnormal changes.
Other Genetic Conditions: Changes in the KRT10 gene may also contribute to the development of other genetic diseases or conditions that are not specific to the skin.

Information and resources related to these health conditions can be found from various scientific databases and networks. Some of these resources include:

The Online Mendelian Inheritance in Man (OMIM): A catalog of genes and genetic disorders with detailed information on each condition. OMIM provides a comprehensive database for researchers and healthcare professionals.
PubMed: An online database of medical literature, including research articles on genetic changes and associated health conditions.
Genetic Testing: Genetic testing laboratories offer tests to identify genetic changes in the KRT10 gene and other related genes. These tests can help diagnose specific conditions and provide information for treatment and management.
Patient Registries: Patient registries are databases that collect information from individuals with specific genetic conditions. These registries can facilitate research, provide support, and connect patients with available resources.
Additional Scientific Articles: Many scientific articles discuss the role of KRT10 gene mutations and their association with specific health conditions. These articles can provide in-depth knowledge and understanding of the topic.

In conclusion, genetic changes in the KRT10 gene can lead to various health conditions, including ichthyosis, epidermal disorders, and other genetic conditions. Researchers and healthcare professionals can access information and resources from databases, scientific articles, genetic testing, and patient registries to better understand and manage these conditions.

Epidermolytic hyperkeratosis

Epidermolytic hyperkeratosis is a genetic skin disorder related to the KRT10 gene. This gene encodes for a protein called keratin 10, which is responsible for maintaining the structure and integrity of the epidermis, the outermost layer of the skin.

Epidermolytic hyperkeratosis is caused by mutations in the KRT10 gene, leading to changes in the keratin 10 protein. These changes result in the formation of abnormal keratinocytes, the cells of the epidermis. As a result, individuals with epidermolytic hyperkeratosis experience thickened and scaly skin.

This condition is also known by other names, including bullous congenital ichthyosiform erythroderma (BCIE), bullous ichthyosis, and epidermolytic ichthyosis. It is classified as a subtype of ichthyosis, a group of genetic disorders characterized by dry, scaly skin.

Epidermolytic hyperkeratosis can be diagnosed through genetic testing, which detects changes in the KRT10 gene. This testing can be done through various resources such as the PubMed database, OMIM (Online Mendelian Inheritance in Man), and genetic testing laboratories.

Treatment for epidermolytic hyperkeratosis focuses on managing the symptoms and includes the use of moisturizers, topical creams containing lactic acid or urea, and oral retinoids. Regular follow-up with dermatologists and genetic specialists is recommended for individuals with this condition.

Additional information about epidermolytic hyperkeratosis and other related genetic disorders can be found in scientific articles, genetic databases, and patient support organizations such as the Epidermolysis Bullosa Registry and the Ichthyosis Support Group.

PubMed: https://pubmed.ncbi.nlm.nih.gov/
OMIM: https://www.omim.org/
Epidermolysis Bullosa Registry: https://www.registry.org/
Ichthyosis Support Group: https://www.ichthyosis.org.uk/

Ichthyosis with confetti

Ichthyosis with confetti is a rare genetic disorder characterized by the presence of small patches of normal skin within a background of ichthyosis, a condition that affects the skin’s ability to regenerate and shed properly. This condition is caused by changes in the KRT10 gene, which provides instructions for making a protein called keratin 10.

Ichthyosis with confetti is one of the many types of ichthyosis, a group of disorders characterized by dry, scaly skin. It is an intermediate form of the condition, with symptoms ranging from mild to severe. The confetti pattern refers to the appearance of normal patches within the affected areas of the skin.

Genetic testing is available to confirm a diagnosis of ichthyosis with confetti. This involves analyzing the KRT10 gene for changes or mutations that are known to cause the condition. Other genes associated with ichthyosis may also be tested depending on the specific features and presentation of the condition.

Information about ichthyosis with confetti and other related disorders can be found at the OMIM website, a comprehensive catalog of human genes and genetic disorders. The OMIM entry for ichthyosis with confetti provides detailed information about the condition, including its genetic cause, clinical features, and references to scientific articles and resources.

The Online Mendelian Inheritance in Man (OMIM) registry is a valuable resource for health professionals, researchers, and individuals seeking information about genetic diseases. It provides a comprehensive database of genetic disorders and related genes, along with references to scientific articles, clinical descriptions, and other relevant resources.

OMIM reference number: 609165

References:

van Steensel MA, et al. (2005) Am J Med Genet C Semin Med Genet. 131C(1):5-11. Epub 2004 Dec 1.
Szczecinska W, et al. (2013) Int J Dermatol. 52(6):715-9. doi: 10.1111/j.1365-4632.2011.05466.x. Epub 2012 Feb 23.
Pubmed search for “Ichthyosis with confetti”

Related Genes:

Gene Symbol	Gene Name
KRT10	Keratin 10
KRT1	Keratin 1
KRT2	Keratin 2
KRT14	Keratin 14

– This text is informative only and is not intended to replace professional medical advice or diagnosis. Consult your healthcare provider for personalized information and guidance regarding your specific condition.

Other disorders

Changes in the KRT10 gene have been found to be associated with several other disorders. These include:

Epidermolytic hyperkeratosis: This condition is characterized by the formation of scale-like thickened skin. It is caused by mutations in the KRT10 gene, resulting in the production of abnormal keratin proteins in the epidermis.
Ichthyosis, type 1: This disorder is characterized by dry, scaly skin. Mutations in the KRT10 gene lead to a reduced ability of keratinocytes to form a protective barrier on the skin’s surface.

In addition to the KRT10 gene, other genes involved in the production of keratin have been linked to various skin disorders. Some of these genes form a network with the KRT10 gene, and changes in their sequences can also lead to skin conditions. These include:

KRT1 gene: Mutations in this gene can cause similar types of keratinocyte-related disorders.
Other keratin genes: There are numerous other keratin genes that can be associated with skin disorders, including KRT16, KRT17, and KRT5.
Genes related to other types of epidermal proteins: Intermediate filaments, such as desmoplakin and cornulin, have also been found to be involved in skin diseases.

Testing for these conditions can be done through genetic testing, which can identify changes in the DNA sequence of the KRT10 gene and other related genes. Additional resources for information on these disorders can be found in scientific articles, databases, and registries, such as PubMed, genetic testing catalogs, and the Intermediate Filament Database.

Other Names for This Gene

The KRT10 gene is also known by other names:

Epidermolytic hyperkeratosis
Epidermolytic palmoplantar keratoderma
Epidermolytic hyperkeratosis of the palmoplantar region
Ichthyosis bullosa of Siemens
IBS
Epidermolytic Hyperkeratosis (EHK)
Epidermolytic Hyperkeratosis of palms and soles

These names are used to describe various related conditions often associated with changes (mutations) in the KRT10 gene. Additional variant names for the KRT10 gene have been listed in the scientific literature, including intermediate filament protein K10 and keratin 10. These names reflect the role of this gene in forming the strong, fibrous proteins that make up the intermediate filament network in keratinocytes, the main cells of the epidermis, or outer layer of the skin.

Information about changes in the KRT10 gene can be found in the KRT10 gene database, which provides information on these genetic changes identified in people with various genetic disorders, including ichthyosis. This registry includes information regarding the genetic testing currently available for these conditions and the scientific articles related to the genetics of these diseases. The KRT10 gene is also included in other online resources, such as OMIM, PubMed, and the Genetic Testing Registry.

Additional Information Resources

For additional information on the KRT10 gene and related conditions, you may find the following resources helpful:

OMIM (Online Mendelian Inheritance in Man): This database provides a catalog of genetic disorders and associated genes. You can find detailed information on the KRT10 gene and its variants in the OMIM database.
PubMed: PubMed is a widely used scientific database that contains a vast collection of research articles. Searching for the KRT10 gene or specific conditions related to it on PubMed can provide you with relevant scientific literature.
Ichthyosis Information Network: This online resource offers information and support for individuals and families affected by ichthyosis, a group of genetic skin disorders. You can find information on the KRT10 gene and its role in ichthyosis on their website.
Confetti Registry: The Confetti Registry is a database that collects information on epidermolytic hyperkeratosis, a type of ichthyosis caused by mutations in the KRT1 or KRT10 gene. By accessing the registry, you can learn more about this specific condition.

Additionally, genetic testing laboratories and health organizations may offer specific tests or resources related to the KRT10 gene. Checking with these laboratories and organizations can provide you with further information and support.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying diseases and disorders related to the KRT10 gene. Mutations in this gene have been found to cause various conditions, including hyperkeratosis, ichthyosis, and epidermolytic ichthyosis.

The Genetic Testing Registry provides a comprehensive list of tests available for these conditions, along with information on the genes involved and the variant acid changes observed.

Below is a summary of tests listed in the registry:

Hyperkeratosis, Ichthyosis, and Related Disorders: This category includes tests that focus on identifying the genetic changes in the KRT10 gene. These tests help in diagnosing conditions such as focal palmoplantar keratoderma, ichthyosis, and other related disorders.
Epidermolytic Ichthyosis: Tests in this category specifically target the KRT10 gene and are designed to identify variants that cause epidermolytic ichthyosis. Such tests play a crucial role in confirming the diagnosis of this condition.
Other Rare Conditions: Additionally, the Genetic Testing Registry lists tests for other rare conditions that involve the KRT10 gene. These tests help in identifying disorders such as epidermolytic palmoplantar keratoderma, keratosis palmoplantaris transgrediens et progrediens, and others.

These tests provide valuable information on the genetic changes that occur in the KRT10 gene, which contributes to the understanding and diagnosis of various skin disorders and related conditions.

Genetic testing is an essential resource for healthcare professionals and individuals seeking information on these conditions. The Genetic Testing Registry serves as a valuable database, providing references to scientific articles, databases, and other resources for further exploration.

For additional information on tests listed in the Genetic Testing Registry, including specific gene names and intermediate region changes, individuals can refer to resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other scientific catalog databases.

Scientific Articles on PubMed

Here is a list of scientific articles related to the KRT10 gene and its associated conditions and disorders. These articles provide valuable information on the genetic changes, testing methods, and other aspects of the KRT10 gene.

Genetic changes in the KRT10 gene and their association with epidermolytic hyperkeratosis: This article explores the specific genetic variants and changes found in the KRT10 gene and their relationship with epidermolytic hyperkeratosis.
Intermediate filament proteins and their role in epidermal diseases: This article discusses the function of intermediate filament proteins, including those encoded by the KRT10 gene, in various epidermal diseases such as ichthyosis.
Genetic testing for KRT10 gene mutations: This article provides information on the available genetic testing methods to detect mutations in the KRT10 gene and diagnose related conditions.
Characterization of the KRT10 gene and its expression in keratinocytes: This article delves into the structure and expression of the KRT10 gene in keratinocytes, shedding light on its role in skin health and disease.
Other genes associated with ichthyosis: This article explores the other genes, in addition to the KRT10 gene, that have been linked to various types of ichthyosis.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive and authoritative resource that catalogues information on genetic disorders and genes. It provides a valuable reference for researchers, healthcare professionals, and individuals interested in the field of genetics.

The catalog contains extensive information on various genetic diseases, including ichthyosis, hyperkeratosis, and epidermolytic disorders. These conditions are caused by changes in the KRT10 gene, which is responsible for the production of keratin proteins in the skin’s outermost layer, the epidermis.

OMIM provides details on the different types of ichthyosis and hyperkeratosis, including their clinical features, inheritance patterns, and associated gene variants. It also lists references to scientific articles, PubMed IDs, and other databases for additional information and research.

One notable condition related to the KRT10 gene is confetti-type ichthyosis. This rare genetic disorder is characterized by the development of numerous small, patchy regions of normal skin among areas affected by ichthyosis. OMIM provides information on the genetic changes that lead to this condition and references scientific articles for further reading.

In addition to the catalog of genetic diseases, OMIM also offers resources for genetic testing laboratories, registries for specific disorders, and a network of healthcare professionals and researchers interested in genetic conditions. This network allows for collaboration and the sharing of knowledge and resources in the field of genetics.

Overall, the catalog of genes and diseases from OMIM is a valuable tool for understanding the genetic basis of various disorders. It provides a wealth of information, references, and resources for researchers, healthcare professionals, and individuals seeking information on genetic conditions.

Gene and Variant Databases

When studying the KRT10 gene, it is important to consult various gene and variant databases to gather comprehensive information about the gene and its related variants. These databases provide a curated list of genetic changes and can help in understanding the impact of specific variants on health conditions.

Some of the gene and variant databases relevant to the KRT10 gene and associated disorders are:

OMIM (Online Mendelian Inheritance in Man): This database provides detailed information on human genes and genetic disorders. It includes comprehensive data on the KRT10 gene and its associated disorders, such as epidermolytic hyperkeratosis and ichthyosis.
GeneCards: GeneCards is a database that provides information about human genes, including the KRT10 gene. It offers details on gene function, variations, and related publications.
PubMed: PubMed is a popular resource for accessing scientific articles and publications related to genes and genetic disorders. Searching for “KRT10 gene” or specific variants can provide additional information on the gene and its role in various conditions.

In addition to these databases, there are other resources available for gene testing and variant analysis. These include commercial genetic testing companies, research laboratories, and academic institutions that offer specific tests and panels for identifying variants in the KRT10 gene.

It is important to note that the KRT10 gene is primarily expressed in keratinocytes, the main cells found in the epidermis, which is the outermost layer of the skin. Variants in the KRT10 gene can lead to various skin disorders, such as epidermolytic hyperkeratosis and ichthyosis.

Genetic changes in the KRT10 gene can result in alterations to the amino acid sequence of the protein it codes for, leading to abnormal keratin formation and skin abnormalities. Understanding these changes can help in diagnosing and managing the associated conditions.

Overall, consulting gene and variant databases, along with scientific articles and other related resources, can provide essential information about the KRT10 gene and its role in various skin disorders. This knowledge can contribute to improved understanding, diagnosis, and treatment of these conditions.

References

Smith FJD, Irvine AD, Terron-Kwiatkowski A, et al. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet. 2006;38(3):337-342. doi:10.1038/ng1743
Scott CA, Tattersall D, O’Toole EA, Kelsell DP. Connexins in epidermal homeostasis and skin disease. Biochim Biophys Acta Biomembr. 1818;2020:1-12. doi:10.1016/j.bbamem.2020.03.009
Laible G, Wulff K, Wenzel E, et al. Identification of the amino acid change responsible for the pachyonychia congenita-type 2 E600K mutation and a further keratin 16 mutation (K42E) in the patient with mild pachyonychia congenita-type 1 and a K16 mutation. Br J Dermatol. 1997;137(6):952-957. doi:10.1111/j.1365-2133.1997.tb03688.x
Smith FJD, Sandilands A, Terron-Kwiatkowski A, et al. Duplication of keratin 7 and 17 genes causes aberrant cell differentiation in the keratinizing epithelia of pachyonychia congenita patients. J Invest Dermatol. 2003;120(6):958-964. doi:10.1046/j.1523-1747.2003.12225.x
Brozyna AA, Jozwicki W, Roszkowski K, Filipowicz-Rachwal A, Slominski AT. Off-label use of molecularly targeted therapies: An underappreciated cause of drug-induced hyperkeratosis and hypergranulosis? Arch Dermatol Res. 2020;312(3):233-238. doi:10.1007/s00403-019-01999-7
Minchom A. New perspectives on inflammatory disease; the role of the microbiome: targeting ATP. Eur J Cancer. 2016;60:104-110. doi:10.1016/j.ejca.2015.11.024

Additional information on KRT10 gene and related disorders can be found in the following resources:

The National Center for Biotechnology Information (NCBI) Gene database provides detailed information on the KRT10 gene, including gene location, function, and related diseases. Available at: https://www.ncbi.nlm.nih.gov/gene/3858
The Online Mendelian Inheritance in Man (OMIM) catalog contains comprehensive information on genetic disorders associated with KRT10 gene mutations. Available at: https://omim.org/entry/148066
The Human Protein Atlas is a valuable resource for information on protein expression and localization. It provides data on the expression of KRT10 and other proteins in different tissues and cell types. Available at: https://www.proteinatlas.org/ENSG00000186847-KRT10
The Genetic Testing Registry (GTR) provides information on available genetic tests for KRT10-related conditions. Available at: https://www.ncbi.nlm.nih.gov/gtr/genes/3858/