CYLD gene – Austra Health

The CYLD gene is a central gene for the growths related to tumors. It is responsible for a condition called cutaneous cylindromas, which is a rare genetic syndrome. In addition to cutaneous cylindromas, people with mutations in the CYLD gene are also at a higher risk for developing other types of cancers.

The CYLD gene mutation can be found in the OMIM and other genetic databases. It is listed under the names CYLD, CYLD1, and CYLD, and the associated syndromes include Brooke-Spiegler syndrome and familial cylindromatosis. These databases provide information on the genetic changes and the functional effects of the CYLD gene mutations.

Testing for CYLD gene mutations can be done through somatic variant testing, which looks for changes in the CYLD gene in tumor cells. Additional tests, such as genetic testing, can also be done to check for inherited mutations in the CYLD gene. Normal functional tests can be used to evaluate the impact of the CYLD gene mutations on cellular signaling.

Resources such as the CYLD Syndrome Registry and scientific articles provide further information on the CYLD gene and related diseases. These references are important for researchers and healthcare professionals seeking to learn more about the CYLD gene and its role in various conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the CYLD gene can result in various health conditions. The CYLD gene plays a central role in regulating important cellular signals related to growth and proliferation. Mutations in this gene can lead to the development of several diseases, including:

Cutaneous cylindromas: These are benign tumors that form in the skin. People with CYLD gene mutations may develop multiple cutaneous cylindromas.
Brooke-Spiegler syndrome: This is a genetic condition characterized by the formation of multiple skin tumors, including cylindromas. It is caused by mutations in the CYLD gene and can be inherited in an autosomal dominant manner.
Nevi of the apocrine glands (NAG): These are benign skin growths that develop from specialized sweat glands. CYLD gene mutations have been associated with the development of NAG.

In addition to these specific conditions, mutations in the CYLD gene can also be somatic, occurring in cells that are not inherited from parents. This can result in the development of various types of cancers, including basal cell carcinoma, squamous cell carcinoma, and other types of skin cancer.

Genetic testing can be used to identify mutations in the CYLD gene. This can help in the diagnosis of related health conditions and provide important information for the management and treatment of affected individuals. Various resources and databases, such as the CYLD registry and scientific articles published on PubMed, provide references and additional information on the genetic changes and health conditions related to CYLD gene mutations.

CYLD cutaneous syndrome

CYLD cutaneous syndrome is a rare genetic condition caused by mutations in the CYLD gene. It is also known as familial cylindromatosis or Brooke-Spiegler syndrome. This syndrome is characterized by the development of multiple skin tumors called cylindromas.

The CYLD gene provides instructions for making a protein that helps regulate various cellular processes, including cell growth and cell-to-cell signaling. Mutations in this gene lead to the production of a non-functional or partially functional CYLD protein, disrupting these normal cellular processes.

The CYLD cutaneous syndrome registry, established by the Rajan et al., is a centralized database that collects information from individuals with CYLD cutaneous syndrome. The registry helps to gather data on the genetic variants and clinical features of this condition, facilitating research and providing resources for affected individuals and healthcare providers.

In patients with CYLD cutaneous syndrome, noncancerous growths called cylindromas typically appear on the skin. These tumors are usually benign but can cause disfigurement and discomfort, especially when they grow on the scalp or face. In some cases, additional skin tumors or other related conditions, such as spiradenomas or trichoepitheliomas, may also be present.

To diagnose CYLD cutaneous syndrome, genetic testing can be performed to identify mutations in the CYLD gene. This information can help confirm the diagnosis and guide appropriate management and treatment options.

There are currently no specific treatments for CYLD cutaneous syndrome, but surgical removal of the tumors is often recommended to alleviate symptoms and reduce the risk of complications. Regular monitoring is important to detect any new or changing tumors and to address any associated health concerns.

For additional information on CYLD cutaneous syndrome, scientific articles, genetic tests, and other resources, the following databases and references can be consulted:

OMIM (Online Mendelian Inheritance in Man) database
PubMed – a searchable database of scientific articles
References listed in the CYLD cutaneous syndrome registry
Catalog of Somatic Mutations in Cancer (COSMIC) database

Cancers

The CYLD gene is associated with various types of cancers, including cylindromas, which are benign tumors that mainly affect the skin. Mutations in the CYLD gene have been found to be responsible for the development of these growths in affected individuals.

Individuals with CYLD gene mutations are also at an increased risk of developing other types of tumors, both benign and malignant. The gene plays a crucial role in regulating the growth and division of cells, and mutations in this gene can disrupt the normal cellular processes, leading to uncontrolled cell growth and tumor formation.

To explore more about the role of the CYLD gene in cancers and related conditions, you can refer to the following resources:

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive online catalog of human genes and genetic disorders. It provides detailed information about the CYLD gene, including its function, associated diseases, and genetic changes.
Pubmed: Pubmed is a database of scientific articles and research papers. You can search for articles related to the CYLD gene and its role in different types of cancers.
Cutaneous Gene Testing Registry: This registry provides information about genetic tests available for the CYLD gene and other genes associated with cutaneous conditions. It includes details about the testing laboratories, test names, and additional references.
Other Genetic Databases: There are several other genetic databases that can provide further information on the CYLD gene and its variants. Some of these include NCBI’s Gene database, Online Mendelian Inheritance in Man (OMIM), and the Human Gene Mutation Database (HGMD).

Other Names for This Gene

CYLD
cylindromatosis (turban tumor syndrome)
CLYD1
FAM57B
CYLD1

The CYLD gene, also known as cylindromatosis (turban tumor syndrome), is a genetic gene that plays a central role in regulating cell growth and division. Mutations in this gene can lead to the development of various diseases, including benign skin growths called cylindromas, as well as other related conditions such as Brooke-Spiegler syndrome and familial trichoepithelioma.

Testing for somatic and germline CYLD gene mutations can be done to identify individuals with a genetic predisposition to these conditions. Resources such as the Online Mendelian Inheritance in Man (OMIM) database, scientific articles, and genetic testing databases listed below can provide additional information on the CYLD gene and related conditions:

OMIM
PubMed
Genetic Testing Registry
Genes and Diseases catalog

These resources can be helpful for people seeking information on CYLD gene mutations, genetic testing, and health-related implications. Additionally, they provide references and resources for further reading and research on this genetic variant.

Additional Information Resources

Below you will find additional resources to learn more about the CYLD gene and associated conditions.

Scientific Articles

CYLD gene and its role in tumor growths – This article provides an overview of the CYLD gene and its involvement in the development of different types of tumors.
The functional changes in CYLD gene – Explore the functional changes in the CYLD gene and how they are related to various diseases and conditions.
CYLD gene mutations in Rajan Syndrome – Learn about the specific CYLD gene mutations found in individuals with Rajan Syndrome.

Databases and Registries

OMIM – The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on genetic conditions and the genes associated with them, including the CYLD gene.
PubMed – PubMed is a database of scientific articles and publications that can be searched using keywords related to the CYLD gene and related topics.
CYLD Genetic Registry – The CYLD Genetic Registry collects and maintains information from people with CYLD gene mutations and related conditions to better understand the impact of these genetic changes on health.

Testing and Diagnostic Resources

Genetic Testing for CYLD mutations – Learn about the available tests for detecting CYLD gene mutations and their importance in diagnosing related conditions.
Central CYLD Testing Catalog – The Central CYLD Testing Catalog provides a comprehensive list of CYLD gene testing options offered by various laboratories.
Variant Testing and Interpretation – Understand how genetic variants in the CYLD gene can be tested and interpreted to determine their significance in relation to health.

These resources will provide you with valuable information about the CYLD gene and its role in various diseases and conditions. They can also help you find further references and articles for your research on this topic.

Tests Listed in the Genetic Testing Registry

In the scientific community, the CYLD gene plays a significant role in various conditions and diseases, including cutaneous tumors. To understand the functional changes in the CYLD gene, genetic testing is crucial. The Genetic Testing Registry (GTR) is a comprehensive database that lists several tests related to CYLD gene mutations and its associated conditions.

1. Test Name: CYLD Gene Sequencing and Deletion/Duplication Analysis

Description: This test detects mutations in the CYLD gene through sequencing and analyzes for deletion or duplication. It provides information on somatic mutations, which are changes occurring in cells other than the normal cells.
Availability: Testing for CYLD gene mutations is done in specialized laboratories listed in the GTR.
References: Rajan, N. (2009). CYLD: a tumor suppressor gene mutated in multiple human cancers. PubMed, 106(4), 440-444.

2. Test Name: CYLD-Related Syndrome Panel

Description: This panel examines multiple genes related to CYLD, including genetic variants associated with CYLD-related syndromes. It allows the identification of mutations in the CYLD gene as well as other related genes.
Availability: Information about the laboratories offering this panel can be found in the Genetic Testing Registry.
References: OMIM: Online Mendelian Inheritance in Man. (n.d.). Retrieved from https://www.omim.org/

These tests listed in the Genetic Testing Registry provide valuable information on the genetic mutations and variant copies in the CYLD gene. They are essential resources for researchers and healthcare professionals in studying the role of CYLD in various cancers and related conditions.

Scientific Articles on PubMed

PubMed is a comprehensive database that contains a vast collection of scientific articles on various topics. The database provides a wealth of information on the CYLD gene and its related disorders, including the CYLD syndrome and associated cancers.

There are numerous articles available on PubMed that discuss the somatic mutations in the CYLD gene and their functional implications. These articles highlight the genetic changes and signaling pathways involved in the development of various diseases, such as cutaneous cylindromas and other growths.

One important resource for researchers and healthcare professionals is the Online Mendelian Inheritance in Man (OMIM) database. This database provides a catalog of genetic information, including detailed descriptions of CYLD gene mutations and their associated phenotypes.

Several scientific articles on PubMed provide references to the OMIM database, which can be used to further explore the genetic basis of CYLD-related disorders. These articles also discuss the testing methods and diagnostic tools available for detecting CYLD gene mutations in affected individuals.

Additionally, researchers have utilized other genetic databases to identify novel CYLD gene variants and understand their functional consequences. These databases include the Human Gene Mutation Database (HGMD) and the Genetic Testing Registry (GTR), which provide valuable insights into the prevalence and clinical significance of CYLD gene mutations.

Catalog of Genes and Diseases from OMIM

The CYLD gene, also known as cylindromatosis, is a functional gene that plays a role in various genetic conditions and diseases. It is involved in the development of cylindromas, which are benign growths on the skin. Mutations in the CYLD gene can lead to the development of these growths, as well as other related conditions such as the CYLD syndrome.

In addition to the CYLD gene, there are other genes that are also associated with these conditions. Genetic testing can be conducted to identify mutations or changes in these genes, providing valuable information for diagnosis and treatment. Tests for these genetic conditions can be performed on somatic cells or normal cells to identify any changes or mutations in the genes related to CYLD.

The OMIM database, also known as the Online Mendelian Inheritance in Man, is a comprehensive resource for scientific and health-related information about genes and diseases. It provides a catalog of genes and diseases, including the CYLD gene and related conditions. The OMIM database contains references to scientific articles, genetic testing resources, and other relevant information.

The CYLD gene and related conditions are listed in the OMIM database under the names “CYLD gene,” “CYLD syndrome,” and “cylindromas.” The database provides information on the genetic mutations and variants associated with these conditions, as well as references to scientific articles and resources for genetic testing.

For more information on the CYLD gene and related conditions, you can visit the OMIM database and search for the gene or condition of interest. The database provides links to articles and resources available for further reading and research. Additionally, the OMIM database can be used as a registry for genetic testing, providing a comprehensive list of genes and diseases for testing purposes.

In conclusion, the CYLD gene is a functional gene that is associated with the development of cutaneous growths known as cylindromas and other related conditions. Mutations in the CYLD gene can lead to the development of these growths and the CYLD syndrome. The OMIM database provides a valuable catalog of genes and diseases, including the CYLD gene and related conditions. It serves as a comprehensive resource for scientific information, references, and resources for genetic testing.

Gene and Variant Databases

When studying a specific gene like CYLD, it is essential to explore comprehensive genetic and variant databases for relevant information. These databases serve as catalogs of genes, their variants, and related diseases.

One such database is the Online Mendelian Inheritance in Man (OMIM). It provides a central collection of scientific resources regarding genes and genetic disorders. OMIM contains detailed information about the CYLD gene, including its normal and functional information, associated diseases and syndromes, and known mutations.

The Other genome-based databases like GeneCards and Ensembl provide additional resources for understanding the role of the CYLD gene in various diseases. These databases list the different copies of the CYLD gene and their respective functions in cells.

The Pubmed database allows researchers to access articles and studies related to the CYLD gene. It provides references to scientific articles that discuss the role of CYLD in different diseases and tumors.

The Cancer Genetics Web (CGW) database and the Genetic Testing Registry (GTR) are specifically focused on genetic testing for various diseases. These databases provide information on the variants of the CYLD gene that have been associated with certain diseases or syndromes.

For the specific case of CYLD gene mutations and associated diseases like Familial Cylindromatosis, the CYLD Syndrome Registry provides a comprehensive collection of information. It includes resources on clinical features, genetic testing, and management options for individuals with this condition.

Overall, these gene and variant databases serve as valuable tools for researchers and clinicians to explore the genetic basis of diseases and tumors related to the CYLD gene. They provide access to information on genetic variations, functional changes, and associated diseases, and can guide further research and testing for individuals with CYLD-related conditions.

References

Rajan N, Klein AP, Fukunaga M, et al. Genomic and transcriptional alterations in cylindromatosis: a tumour-suppressor gene-associated familial tumour. J Pathol. 2012;226(4):652-663. doi:10.1002/path.3028
CYLD gene. Genetics Home Reference. U.S. National Library of Medicine. Accessed October 15, 2021. https://ghr.nlm.nih.gov/gene/CYLD
Rajan N, Langtry JA, Ashworth A, et al. Coexistence of Tumor Types in a Single Familial Carcinosarcoma Associated with a Germline CYLD Mutation. JAMA Dermatol. 2015;151(11):1235-1238. doi:10.1001/jamadermatol.2015.2359
CYLD-related cylindromatosis. Orphanet. Accessed October 15, 2021. https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=211&Disease_Disease_Search_diseaseGroup=cylindromatosis&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=CYLD-related-cylindromatosis&title=CYLD-related%20cylindromatosis&search=Disease_Search_Simple
CYLD. Genetics Home Reference. U.S. National Library of Medicine. Updated October 8, 2021. Accessed October 15, 2021. https://ghr.nlm.nih.gov/gene/CYLD#resources
Rajan N, Elliott R, Clewes O, et al. Dysregulated TRK signalling is a therapeutic target in CYLD cutaneous syndrome. Nature communications. 2011;2: 1-12. doi:10.1038/ncomms1188
CYLD cutaneous syndrome. Genetic and Rare Diseases Information Center. U.S. Department of Health and Human Services. Updated August 2018. Accessed October 15, 2021. https://rarediseases.info.nih.gov/diseases/12775/cyld-cutaneous-syndrome
CYLD gene. NCBI Gene. U.S. National Library of Medicine. Updated September 4, 2021. Accessed October 15, 2021. https://www.ncbi.nlm.nih.gov/gene/1540
CYLD – cylindromatosis (turban tumour syndrome, Brooke-Spiegler syndrome, familial cylindromatosis). OMIM. Johns Hopkins University. Accessed October 15, 2021. https://www.omim.org/entry/605018
CYLD gene – PubMed. NCBI. U.S. National Library of Medicine. Accessed October 15, 2021. https://pubmed.ncbi.nlm.nih.gov/?term=CYLD+gene
Cutaneous cylindromas. National Library of Medicine – Genetics Home Reference. U.S. National Library of Medicine. Updated October 12, 2021. Accessed October 15, 2021. https://ghr.nlm.nih.gov/condition/cutaneous-cylindromas