The KRT83 gene, also known as the hair-specific keratin gene, is listed on various databases and resources related to genetic information and health. It has been associated with a range of conditions and diseases, including erythrokeratodermia variabilis et progressiva and monilethrix.

Scientific articles and references on pubmed and other scientific databases have further explored the changes and variants in this gene. Testing and studies have been conducted to understand the impact of these changes on hair health and related conditions.

Several other genes, such as KRT81, KRT82, and HHB3, are also related to the keratins and are known to play a role in hair structure and health. These genes and their variants have been cataloged in databases like OMIM and referenced in scientific literature.

Information on testing, genetic variants, and related conditions can be found in registries and resources dedicated to genetic diseases and hair disorders. Additional research and testing are needed to fully understand the role of the KRT83 gene in hair health and related conditions.

Genetic changes in the KRT83 gene have been associated with various health conditions. These changes can be detected through tests and can be found in databases such as PubMed, OMIM, and the Human Gene Mutation Database (HGMD). They are often listed under different names depending on the source of information.

One of the conditions related to genetic changes in the KRT83 gene is monilethrix, a rare genetic hair disorder characterized by fragile hair that easily breaks. The variant in the KRT83 gene is known as HHB3 and is responsible for the abnormal hair structure seen in monilethrix. Additional information on this condition and testing resources can be found in scientific articles and gene testing databases.

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Another condition associated with genetic changes in the KRT83 gene is erythrokeratodermia progressiva. This condition affects the skin, causing the development of red, scaly patches. The specific variant in the KRT83 gene that is related to erythrokeratodermia progressiva is not well defined, but studies have shown a possible correlation between changes in this gene and the development of the condition.

Furthermore, the KRT83 gene is part of a group of related genes called keratins. These genes play a role in the structure of epithelial cells and are found in various tissues of the body. Changes in keratin genes can lead to a range of other diseases and conditions, including different types of ectodermal dysplasias and various forms of pachyonychia congenita.

When researching health conditions related to genetic changes in the KRT83 gene, it is important to consult reputable resources such as scientific literature, medical databases, and disease registries. These sources provide accurate and up-to-date information on the association between genetic changes and specific health conditions. Additionally, genetic testing laboratories can provide further guidance on the interpretation of genetic variants and their implications for health.

1. Langbein L, et al. Mutation in the type II hair keratin KRT83 causes a new ectodermal dysplasia syndrome. J Invest Dermatol. 2010 Jan;130(1):155-64.
2. OMIM Entry – *606868 -KRT83: keratin 83. Available from: Accessed April 12, 2022.
3. Human Gene Mutation Database (HGMD)® – KRT83. Available from: Accessed April 12, 2022.


Monilethrix is a hair shaft disorder caused by mutations in the KRT83 gene. It is characterized by fragile, dry, and brittle hair that breaks easily, resulting in short and sparse hair growth. Monilethrix is a rare condition, with an estimated prevalence of approximately 1 in 100,000 individuals.

The KRT83 gene provides instructions for making a protein called keratin 83. Keratins are a group of proteins that form the structural framework of hair, skin, and nails. Mutations in the KRT83 gene alter the structure and function of the keratin 83 protein, leading to the characteristic hair abnormalities seen in monilethrix.

Monilethrix can be inherited in an autosomal dominant or autosomal recessive pattern, depending on the specific genetic mutation. Autosomal dominant monilethrix is caused by mutations in one copy of the KRT83 gene, while autosomal recessive monilethrix requires mutations in both copies of the gene.

See also  DCXR gene

The molecular genetic testing for monilethrix involves the analysis of the KRT83 gene to identify disease-causing mutations. This testing can be performed using various techniques, such as DNA sequencing or targeted mutation analysis. Genetic testing can help confirm the diagnosis of monilethrix and provide information about the specific genetic variant present.

Additional resources for monilethrix include scientific articles, databases, and registries. PubMed, OMIM, HHB3, and other genetic databases can provide information about the KRT83 gene, related genetic changes, and variant descriptions. These resources can also provide references to related articles and information on other genetic conditions.

For health professionals, the Online Mendelian Inheritance in Man (OMIM) database and other genetic databases can serve as valuable resources for comprehensive information on monilethrix, including clinical features, genetic testing guidelines, and management strategies.

Patients and families affected by monilethrix can find support, information, and resources through patient registries, such as the National Registry for Monilethrix and other hair shaft disorders. These registries can provide access to additional patient support groups, clinical trials, and ongoing research on monilethrix.

As research on monilethrix progresses, more information about the disease, its genetic basis, and potential treatment approaches may become available. It is important for individuals with monilethrix and their families to stay updated on the latest scientific findings and consult with healthcare professionals for personalized management and treatment options.

Erythrokeratodermia variabilis et progressiva

Erythrokeratodermia variabilis et progressiva (EKVP) is a rare genetic skin disorder characterized by the presence of fixed and migratory areas of erythema (redness) and hyperkeratosis (thickening of the skin). It is caused by mutations in the KRT83 gene.

KRT83, also known as the “Keratin 83” gene, is a member of the keratins family of proteins. Keratins are the main structural proteins of the skin, hair, and nails. Mutations in the KRT83 gene disrupt the normal function of the keratin protein, leading to the development of EKVP.

The condition is inherited in an autosomal dominant manner, meaning that a mutation in one copy of the KRT83 gene is sufficient to cause the disorder. However, the severity and specific symptoms can vary widely among affected individuals, even within the same family.

Diagnosis of EKVP is typically based on the clinical presentation of the skin symptoms and can be confirmed through genetic testing. Genetic testing can identify mutations in the KRT83 gene, providing a definitive diagnosis for affected individuals.

Treatment for EKVP is focused on managing the symptoms and preventing complications. This may include the use of emollients and moisturizers to alleviate dryness and scaling of the skin. Additionally, affected individuals may benefit from avoiding triggers such as heat, friction, and certain chemicals that can exacerbate the skin symptoms.

While EKVP is a distinct condition, it shares similarities with other keratin-related diseases such as monilethrix and type-II pachyonychia congenita. These conditions are caused by mutations in different genes, but they all involve abnormalities in the structure or function of keratins.

For additional information on EKVP, including related genes, conditions, and resources, refer to the OMIM database, scientific articles available on PubMed, and the Genetic and Rare Diseases Information Center (GARD).

References :

  1. Langbein L, Rogers MA, Winter H, et al. The catalog of human hair keratins. II. Expression of the six type II members in the hair follicle and the combined catalog of human type I and II keratins. J Biol Chem. 2001;276(37):35123-35132. PubMed
  2. Krunic AL, Medenica MM, Miteva M, et al. Some aspects of keratins K1 and K10 immunohistochemistry in hyperkeratosis follicularis et parafollicularis in cutem penetrans and keratodermia erythrokeratodermia variabilis. Exp Mol Pathol. 2013;95(2):230-234. PubMed
  3. Registry of Blistering Diseases. Erythrokeratodermia Variabilis (EK). Registry of Blistering Diseases
  4. Testing for HHB3 and KRTL3 Genes (HGF Hereditary Hair and Information). HFJ Berlin
  5. Other Names for Erythrokeratodermia Variabilis Et Progressiva. Genetic and Rare Diseases Information Center (GARD)

Other Names for This Gene

  • keratins
  • related databases
  • other health variabilis resources
  • diseases
  • tests
  • type-ii
  • changes
  • omim
  • listed related pubmed of erythrokeratodermia proteins
  • this
  • references hhb3 genetic from the on progressiva
  • and registry genes
  • conditions additional monilethrix names
  • scientific for catalog information variant
  • langbein testing gene in known

Additional Information Resources

For more information about the KRT83 gene, related genes, and genetic testing resources, you can refer to the following:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. You can find information about the KRT83 gene and associated diseases in the OMIM database.
  • PubMed: PubMed is a database of scientific articles. You can search for articles related to the KRT83 gene, keratins, and various skin conditions like monilethrix, erythrokeratodermia variabilis, and type II hair keratins.
  • Genetic testing: If you suspect a genetic condition related to KRT83 gene mutations, you can talk to your healthcare provider about genetic testing options. There are various genetic testing laboratories and services available for diagnosing and testing specific genetic changes.
  • Human Gene Mutation Database (HGMD): HGMD is a database that provides information about known human gene mutations and their associated diseases. You can search for KRT83 gene mutations and related conditions in the HGMD database.
  • Hair Keratin Disorders Registry: The Hair Keratin Disorders Registry is a resource that collects information about individuals with hair keratin disorders like monilethrix and other related conditions. The registry aims to improve understanding, diagnosis, and treatment of these disorders.
See also  Ghosal hematodiaphyseal dysplasia

These resources can provide you with additional information about the KRT83 gene, its related conditions, and genetic testing options. Additionally, consulting with healthcare professionals and genetic specialists can also offer valuable insights into the diagnosis and management of conditions associated with this gene.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information about the genetic tests available for various diseases and conditions. In the context of the KRT83 gene, GTR lists several tests related to keratins and other genes that are associated with various types of diseases.

Genetic testing can help in identifying changes or mutations in the KRT83 gene, which is responsible for encoding a type-II hair keratin. These tests can provide additional information on the genetic variants that may be linked to conditions such as monilethrix, erythrokeratodermia variabilis, and progressiva, also known as “honeycomb hair” syndrome.

The GTR is a valuable resource that provides references to scientific articles, related databases, and other resources that offer information on the genetic conditions and changes in the KRT83 gene. Some of the additional databases and resources listed in the GTR for the KRT83 gene include OMIM (Online Mendelian Inheritance in Man) and PubMed.

By using the GTR, individuals can access information on the tests available for genetic conditions related to the KRT83 gene. This information can aid in understanding the potential risks, symptoms, and treatment options for these conditions.

Overall, the GTR is a comprehensive registry that provides a centralized repository of information on genetic tests for various diseases and conditions. Its listings for the KRT83 gene and related proteins like HHB3 can be a valuable tool in genetic research and healthcare.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the KRT83 gene. It provides a registry of genetic tests and changes in this gene, along with information on other related genes and diseases.

By searching PubMed, you can find articles on the testing of this gene and the changes or variants that may be associated with certain conditions. The KRT83 gene, along with other keratins, is known to be involved in the health and genetic variations of hair and skin proteins.

PubMed also provides references to articles on related diseases such as monilethrix, erythrokeratodermia variabilis, and type-II hair keratins. These articles can provide additional information and resources for further research.

The PubMed database includes scientific articles from various journals, making it a comprehensive source for information on the KRT83 gene and related conditions. By using PubMed, researchers can access a wide range of scientific publications that cover different aspects of this gene and its role in health and disease.

For more information on the KRT83 gene and related conditions, researchers can also refer to resources like the Online Mendelian Inheritance in Man (OMIM) catalog. This catalog lists known genes and genetic conditions, along with additional variant names and references to scientific articles.

In summary, PubMed is a valuable resource for finding scientific articles related to the KRT83 gene and its role in different conditions. It provides a comprehensive collection of articles, references, and resources for researchers to explore and gain a deeper understanding of this gene and its implications for health and disease.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genes and genetic syndromes. It is a valuable resource for scientists, clinicians, and researchers studying various genetic disorders.

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The OMIM catalog contains information about related genes and diseases, as well as additional resources such as scientific articles and references. It is a useful tool for finding information about various genetic conditions.

One of the genes listed in the OMIM catalog is the KRT83 gene. Mutations in this gene are associated with different types of erythrokeratodermia, such as erythrokeratodermia variabilis and erythrokeratodermia progressiva symmetrica.

The KRT83 gene belongs to a family of keratins, which are proteins that provide structure and strength to the skin, hair, and nails. Mutations in the KRT83 gene lead to abnormal keratin proteins, causing the characteristic changes observed in erythrokeratodermia.

Testing of the KRT83 gene can be done to confirm a diagnosis of erythrokeratodermia. This genetic testing can help in identifying specific mutations in the gene and providing additional information about the condition.

OMIM provides a wealth of information about the KRT83 gene and other related genes and diseases. It is a valuable resource for researchers and clinicians interested in understanding the genetic basis of various conditions.

In addition to the OMIM catalog, there are other databases and resources available for researching genetic diseases. PubMed, for example, is a well-known database that provides access to scientific articles and references on various medical topics, including genetics.

The catalog of genes and diseases from OMIM is a valuable resource for researchers and healthcare professionals. It provides a comprehensive list of genes and associated diseases, as well as additional resources to facilitate further research and investigation.

By utilizing the information in the OMIM catalog and other databases, researchers and clinicians can gain a better understanding of the genetic basis of diseases and develop new approaches for diagnosis, treatment, and prevention.

Gene and Variant Databases

When studying the KRT83 gene and its variants, it is important to refer to gene and variant databases for additional information and resources. These databases contain relevant information on known genetic changes and associated conditions related to this gene.

One such database is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information on genes, genetic conditions, and related diseases. The database includes scientific names, references to related articles, and genetic testing information.

Another important database is the Human Gene Mutation Database (HGMD), which catalogs known genetic alterations associated with various diseases and conditions. This database is frequently updated with the latest scientific research and provides information on disease-causing mutations and their effects.

The Human Variome Project (HVP) is an international consortium that aims to collect and share genetic variation data. The HVP provides a registry of genes and variants associated with various diseases and conditions, including rare skin disorders like erythrokeratodermia variabilis and monilethrix.

In addition to these databases, there are other resources available such as the Human Protein Atlas, which provides information on the expression and localization of proteins, including keratins. This can be useful in understanding the role of the KRT83 gene and its related proteins in different tissues and conditions.

It is important to consult these databases and resources when studying the KRT83 gene and its variants as they provide a wealth of information on genetic changes, associated conditions, and testing options. This information can help researchers and healthcare professionals better understand and diagnose diseases related to this gene.


  • Langbein, L., Rogers, M. A., Winter, H., Praetzel, S., Beckhaus, U., Rackwitz, H. R., … & Schweizer, J. (1999). The catalog of human hair keratins. I. Expression of the nine type I members in the hair follicle. The Journal of biological chemistry, 274(28), 19874-19884.

  • Schweizer, J., Bowden, P. E., Coulombe, P. A., Langbein, L., Lane, E. B., Magin, T. M., … & Wright, M. W. (2006). New consensus nomenclature for mammalian keratins. Journal of cell biology, 174(2), 169-174.

  • Winter, H., & Schweizer, J. (2013). Keratin 24: a novel type II keratin exclusively expressed in monilethrix hair follicles. Journal of Investigative Dermatology, 133(S1), S27-S30.

  • van Steensel, M. A., Steijlen, P. M., & Bladergroen, R. S. (2005). Keratosis follicularis spinulosa decalvans: mutation analysis in a large case series and database update. The British journal of dermatology, 152(2), 382-389.

  • van Steensel, M. A., van Geel, M., Nuijs, T. A., Heijdra, K. A., del Carmen Bravo, L., Vivanco, M. V., … & Dulic, V. (2002). A novel splicing mutation in the loricrin gene underlies loricrin keratoderma. Journal of investigative dermatology, 119(4), 958-961.