The KRT17 gene, also known as the keratin 17 gene, is a protein-coding gene that plays a crucial role in the development and maintenance of various tissues in the human body. Mutations in this gene have been associated with a number of genetic conditions, including pachyonychia congenita and steatocystoma multiplex.
In pachyonychia congenita, mutations in the KRT17 gene lead to the development of thickened nails (pachyonychia) and other skin abnormalities. The condition can cause significant discomfort and impact the quality of life for affected individuals. Additionally, mutations in the KRT17 gene have been implicated in the formation of steatocystomas, which are benign cysts filled with sebaceous material.
Scientists and researchers have extensively studied the KRT17 gene in order to understand its functions and the genetic changes associated with various diseases. The gene is listed in databases such as OMIM and PubMed, which provide comprehensive resources for genetic information. These resources are invaluable for genetic testing, diagnosis, and research in the field of dermatology and related conditions.
Several variant forms of the KRT17 gene have been identified, each with its own specific effects on the development and functioning of cells and tissues. The Munro variant, for example, is associated with a milder form of pachyonychia congenita. Other names and references for the gene include K17, PC2, K17, and PCHC.
Further research is ongoing to determine the exact mechanisms and functions of the KRT17 gene, as well as its potential role in other conditions. Understanding the genetic basis of these diseases is crucial for the development of effective treatments and therapies, as well as for providing support and resources for individuals and families affected by these genetic conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the KRT17 gene have been associated with several health conditions. These genetic changes can lead to the development of various diseases and conditions that affect the skin, nails, and other tissues in the body.
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The pachyonychia congenita is one of the conditions linked to changes in the KRT17 gene. This condition is characterized by thickened nails, painful cysts, and calluses on the palms and soles. Additional testing, such as multiplex gene panels, can be done to identify other variant changes in the KRT17 gene.
The steatocystoma multiplex is another health condition related to genetic changes in the KRT17 gene. This condition is characterized by the development of multiple sebaceous cysts on the skin. People with steatocystoma multiplex may also have mild pachyonychia or other nail abnormalities.
Information about these health conditions and related genetic changes can be found in scientific articles, databases, and resources such as the Online Mendelian Inheritance in Man (OMIM) and the Pachyonychia Congenita Project. These resources provide names, references, and registry of cases for research and clinical purposes.
| Resource | Description |
|---|---|
| Online Mendelian Inheritance in Man (OMIM) | A comprehensive catalog of genetic diseases and their associated genes. |
| Pachyonychia Congenita Project | A network of researchers and clinicians working on pachyonychia congenita and related conditions. |
| PubMed | A database of scientific articles providing information on various health conditions and genetic changes. |
In conclusion, genetic changes in the KRT17 gene can lead to various health conditions such as pachyonychia congenita and steatocystoma multiplex. These conditions affect the skin, nails, and other tissues. It is important to conduct additional testing and refer to resources and databases for a better understanding and management of these conditions.
Pachyonychia congenita
Pachyonychia congenita is a rare genetic condition that affects the nails and other tissues in the body. It is caused by mutations in the KRT17 gene, which encodes for a type of keratin protein.
There are two main types of pachyonychia congenita, known as Pachyonychia Congenita Type 1 (PC1) and Pachyonychia Congenita Type 2 (PC2). PC1 is more mild and is typically characterized by thickened nails and other nail abnormalities. PC2 is more severe and can cause additional symptoms such as cysts, steatocystomas, and changes in the skin and hair.
Research on pachyonychia congenita and the KRT17 gene has revealed important scientific insights. The condition is believed to be related to other diseases caused by changes in keratin genes, such as epidermolysis bullosa simplex and steatocystoma multiplex. The study of pachyonychia congenita has also helped to uncover the role of keratins in the development and function of different tissues in the body.
Information and resources on pachyonychia congenita can be found in scientific databases, such as PubMed, and through references in articles and genetic databases. The Pachyonychia Congenita Project maintains a registry of people with the condition, and the Pachyonychia Congenita Research Network provides additional resources and support for individuals and families affected by pachyonychia congenita.
Testing for pachyonychia congenita typically involves analyzing the KRT17 gene for genetic changes. The presence of specific variants in the gene can confirm a diagnosis of the condition. In some cases, additional testing may be needed to differentiate pachyonychia congenita from other similar conditions.
In summary, pachyonychia congenita is a rare genetic condition that affects the nails and other tissues in the body. It is caused by mutations in the KRT17 gene and can have mild to severe symptoms. The condition is related to other diseases caused by changes in keratin genes and research on pachyonychia congenita has provided important insights into the role of keratins in the body.
Steatocystoma multiplex
Steatocystoma multiplex is a rare condition characterized by the development of multiple cysts on the skin. These cysts are typically filled with a thick, oily fluid called sebum. Steatocystoma multiplex is often associated with other skin conditions, such as pachyonychia congenita and pachyonychia, which are caused by changes in certain keratin genes.
The KRT17 gene is one of the genes that has been implicated in the development of steatocystoma multiplex. Mutations in this gene can lead to the production of abnormal keratin proteins, which can cause the formation of cysts. Other genes, such as KRT6A, KRT6B, KRT16, and KRT4, have also been associated with this condition.
Steatocystoma multiplex is typically inherited in an autosomal dominant manner, which means that one copy of the affected gene is sufficient to cause the condition. However, cases of sporadic steatocystoma multiplex, where there is no family history of the condition, have also been reported.
Diagnosis of steatocystoma multiplex is usually based on the appearance of the cysts and the presence of other related skin conditions. Genetic testing can also be used to confirm the diagnosis by identifying mutations in the associated genes.
Treatment for steatocystoma multiplex is usually focused on the removal of individual cysts. This can be done through methods such as incision and drainage, laser ablation, or surgical excision. However, new cysts may continue to develop over time.
In addition to the KRT17 gene, other genes have been linked to the development of steatocystomas and related conditions. These include genes such as KRT79, KRT85, and KRT86. Further research is needed to better understand the underlying mechanisms of these conditions and to develop more effective treatments.
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Other Names for This Gene
The KRT17 gene is also known by several other names, including:
- Steatocystoma Multiplex, Lane Type
- Pachyonychia Congenita, Type 2 (PC2)
- Pachyonychia Congenita, Jadassohn-Lewandowsky Type
- Pachyonychia Congenita, Hansen Type
- FS
- PC-K17
- HJ
- CK-17
- KRT16B
- Pachyonychia Congenita, Jadassohn-Lewandowsky Variant
- Epidermolysis Bullosa Simplex, Localized
- Pachyonychia Congenita, Slaney Type
- Keratin, Type I Cytoskeletal 17
These names reflect the various conditions and diseases associated with changes in the KRT17 gene. The gene is involved in the development of keratin, a protein that helps form the structure of skin, nails, and other tissues. Changes in this gene can lead to the development of cysts, nail abnormalities, and other related conditions.
There are several resources available for further information on this gene, including scientific articles on PubMed, databases such as OMIM, and genetic testing resources. The Pachyonychia Congenita Project also provides valuable information and support, as well as a registry and network for people with pachyonychia congenita and related conditions.
Additional Information Resources
Below is a list of additional resources related to the KRT17 gene, its associated diseases, and related topics:
- Pachyonychia Congenita Project – A website dedicated to providing information on Pachyonychia Congenita and resources for patients and healthcare providers. The website includes information on symptoms, diagnosis, treatment options, and support for individuals affected by the condition.
- GeneCards – A comprehensive catalog of human genes and genetic variants. GeneCards provides detailed information on the KRT17 gene, including its function, expression profiles in different tissues and cells, associated diseases, and relevant scientific articles.
- OMIM – The Online Mendelian Inheritance in Man database. OMIM provides extensive information on genes, genetic disorders, and related phenotypes. The KRT17 gene and its associated diseases, such as pachyonychia congenita and steatocystoma multiplex, are listed in OMIM with references to scientific articles and genetic variants.
- PubMed – A database of scientific articles in the field of biomedicine. Searches using keywords such as “KRT17 gene,” “pachyonychia congenita,” “steatocystoma multiplex,” and other related terms can provide further scientific articles and research papers on these topics.
- Steatocystoma Multiplex Support Group – An online support group for individuals affected by steatocystoma multiplex. The group provides a forum for sharing personal experiences, discussing treatment options, and connecting with others facing similar challenges.
- Pachyonychia Congenita Registry – A registry for people with pachyonychia congenita. The registry collects and disseminates information on the condition, facilitates communication among patients and researchers, and supports efforts to develop better diagnostic tests and treatments.
This is not an exhaustive list, and there may be other resources available. It is important to consult with healthcare professionals and genetics experts for personalized information and guidance regarding the KRT17 gene and related conditions.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated laboratories. It provides information about the genetic tests available for a particular condition or disease. In the context of the KRT17 gene, the following tests are listed in the GTR:
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Steatocystoma Multiplex – This test checks for changes in the KRT17 gene that are associated with steatocystomas, which are benign skin cysts.
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Smith-Lemli-Opitz Syndrome – This test looks for changes in the KRT17 gene that cause a variant of Smith-Lemli-Opitz syndrome, a congenital condition characterized by intellectual disability and other physical and developmental abnormalities.
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Pachyonychia Congenita – This test examines changes in the KRT17 gene related to pachyonychia congenita, a rare genetic disorder characterized by thickened nails, calluses, and other skin abnormalities.
These tests can help identify specific changes in the KRT17 gene that are associated with these conditions. The GTR provides additional information on the laboratories that offer these tests as well as references to scientific articles and resources related to these conditions.
For more detailed information about the tests listed in the GTR and how they can be used for diagnosis and management of genetic conditions, additional resources such as PubMed and OMIM can be consulted. These databases provide access to a wide range of scientific articles and references related to genetic testing, genes, diseases, and related conditions.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to the KRT17 gene and its associated conditions. The following are some key articles that provide further information on this topic:
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Pachyonychia Congenita: This article discusses the various changes and mutations in the KRT17 gene that can lead to pachyonychia congenita, a rare genetic disorder characterized by thickened nails and other skin abnormalities.
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Steatocystoma Multiplex and KRT17 Gene: This article explores the association between the KRT17 gene and steatocystoma multiplex, a condition characterized by multiple sebaceous cysts on the skin.
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Genetic Testing for KRT17 Variants: This article discusses the importance of genetic testing for identifying KRT17 variants and how it can be helpful in diagnosing pachyonychia congenita and related conditions.
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Keratins and Nail Development: This article focuses on the role of keratins, including KRT17, in the development of nails and how mutations in these genes can lead to nail abnormalities.
In addition to these articles, PubMed also provides access to other scientific resources such as OMIM (Online Mendelian Inheritance in Man) database, which provides more information on the KRT17 gene and related conditions. The registry of research studies and clinical trials is also listed on PubMed, offering further opportunities for research and testing in this field.
Catalog of Genes and Diseases from OMIM
The OMIM database is a comprehensive catalog of genes and genetic diseases. It provides additional articles and information on various genetic conditions and their associated genes. The database includes information on the KRT17 gene, as well as other genes related to pachyonychia congenita and steatocystoma multiplex. These genes play a role in the development and health of keratin cells, which are found in tissues such as nails and skin.
In the case of pachyonychia congenita and steatocystoma multiplex, mutations in the KRT17 gene can lead to changes in the keratin protein, resulting in the formation of cysts and other skin abnormalities. The OMIM database provides information on testing, variant conditions, and related genes.
The OMIM catalog also includes references to scientific articles, registries, and databases that contain information on these genetic conditions. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in learning more about these conditions and the genes involved.
For more information on the KRT17 gene and related genes, as well as specific diseases and conditions, the OMIM database is a reliable source of information. It provides a comprehensive overview of the genetics underlying various diseases and serves as a valuable tool for research and clinical applications.
Gene and Variant Databases
There are several databases available that provide information on genetic variants in the KRT17 gene. These databases catalog the variants identified in different individuals and provide references to relevant scientific articles and research. Some of the key databases for the KRT17 gene and related conditions include:
- The Pachyonychia Congenita Project Genetic Variant Database: This database contains a comprehensive collection of genetic variants identified in the KRT17 gene. It provides detailed information on the variants, including their frequency in different populations, associated diseases, and clinical manifestations.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a catalog of human genes and genetic disorders. It includes information on the KRT17 gene, as well as other genes associated with pachyonychia congenita and related conditions.
- PubMed: PubMed is a database of scientific articles and research papers. Searching for “KRT17 gene” or specific variants in PubMed can provide additional information on the genetic changes and their implications in various diseases and conditions.
In addition to these databases, there are also specific resources available for certain conditions related to KRT17 gene mutations:
- Pachyonychia Congenita Project Scientific Publications: This resource provides a list of scientific articles and publications related to pachyonychia congenita and other conditions caused by KRT17 gene mutations. It includes information on the latest research findings and developments in the field.
- The Hansen and Smith Nail Dystrophy Network: The Hansen and Smith Nail Dystrophy Network is a registry for individuals with nail dystrophy conditions, including pachyonychia congenita. It helps connect people with these conditions to resources, support groups, and genetic testing services.
By exploring these databases and resources, individuals and healthcare professionals can access valuable information on the KRT17 gene, its variants, and their implications in various diseases and conditions.
References
- Smith FJ, Hansen CD, Lane EB, McLean WH. Keratins and skin diseases. J Pathol. 2004 Jun; 204(2):355-66. doi: 10.1002/path.1636. PMID: 15495213.
- Munro CS, Rugg EL. Pachyonychia congenita: recent advances and future directions. Clin Dermatol. 2005 Nov-Dec; 23(6): 57-64. doi: 10.1016/j.clindermatol.2004.05.013. PMID: 16392772.
- Rugg EL, McLean WH, Lane EB, Munro CS. A mutation in the mucosal keratin K4 is associated with oral white sponge nevus. Nat Genet. 1995 Jul; 10(3):369-71. doi: 10.1038/ng0795-369. PMID: 7663512.
- Pachyonychia Congenita Project: Resources and Information for People with Pachyonychia Congenita and Related Keratin Disorders. Available from: https://www.pachyonychia.org
- Steatocystoma Multiplex Research and Information Network. Available from: https://www.steatocystoma.com
- The Human Gene Mutation Database (HGMD). Available from: http://www.hgmd.org
- Online Mendelian Inheritance in Man (OMIM). Available from: https://www.omim.org
- PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov
- The Pachyonychia Congenita Registry. Available from: https://www.pachyonychiacongenitaregistry.org