The COL5A2 gene provides instructions for making a protein called alpha-2 chain of type V collagen. This protein is found in connective tissues throughout the body, including skin, bone, tendon, and blood vessels. Type V collagen is a minor component of most tissues, but it is present in large quantities in the tissues that make up the skin, tendons, and certain ligaments.
Changes in the COL5A2 gene are associated with a spectrum of genetic diseases called Ehlers-Danlos syndromes (EDS). EDS is a group of disorders that affect the connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. EDS can lead to a variety of signs and symptoms, including joint hypermobility, stretchy skin, and fragile blood vessels.
Genetic testing is available for changes in the COL5A2 gene that are known to cause EDS. These tests are usually performed on a blood sample or a small piece of skin. Genetic testing for EDS can help confirm a diagnosis in people with signs and symptoms of the disorder and identify people who carry the genetic changes associated with the condition.
Additional information about the COL5A2 gene can be found on the NCBI website. This website provides access to genetic testing registries and databases, scientific articles, and references to other genetic conditions related to changes in this gene.
Health Conditions Related to Genetic Changes
Genetic changes in the COL5A2 gene can lead to various health conditions. These changes can affect the structure and function of collagen, a protein that provides strength and elasticity to tissues. Below is a list of conditions related to genetic changes in the COL5A2 gene:
- Ehlers-Danlos syndrome, classic type: This condition is characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. It is caused by mutations in genes that encode collagen, including the COL5A2 gene.
- Other collagen-related disorders: Genetic changes in the COL5A2 gene can also contribute to other collagen-related disorders, such as vascular Ehlers-Danlos syndrome.
- Other genetic changes: Genetic changes in other genes can also lead to health conditions related to collagen abnormalities. These conditions may have overlapping features with those caused by COL5A2 gene mutations.
Health conditions related to genetic changes in the COL5A2 gene may vary in severity and symptoms. Genetic testing can be performed to identify specific variants in the gene that may be associated with these conditions.
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Additional resources for information on health conditions related to genetic changes in the COL5A2 gene include the following:
- The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic conditions and associated genes. The COL5A2 gene is listed in this database, along with information on related diseases and scientific references.
- The Genetic Testing Registry (GTR) offers information on genetic tests related to the COL5A2 gene. This resource provides details on available tests, including their purpose, methodology, and clinical utility.
- Scientific articles and reviews published in journals such as Seminars in Arthritis and Rheumatism and The American Journal of Medical Genetics can provide additional information on health conditions related to genetic changes in the COL5A2 gene.
In conclusion, genetic changes in the COL5A2 gene can contribute to various health conditions, particularly those related to collagen abnormalities. Genetic testing and resources such as OMIM, GTR, and scientific journals can provide valuable information for understanding and diagnosing these conditions.
The Ehlers-Danlos syndrome (EDS) is a group of rare genetic disorders that affect connective tissues, particularly the production of collagens. There are currently 13 different subtypes of EDS identified, with each variant caused by specific changes in genes that are involved in the synthesis and structure of collagens.
EDS is characterized by a range of symptoms, including joint hypermobility, skin hyperextensibility, and tissue fragility. Individuals with EDS may also experience other conditions such as cardiovascular abnormalities, chronic pain, and gastrointestinal issues. The severity and specific symptoms can vary widely between different types and individuals.
Diagnosis of EDS usually involves a careful evaluation of clinical features and family history, along with additional testing to confirm the presence of genetic changes. Collagen tests and genetic testing are commonly used to identify specific mutations or changes in genes associated with EDS.
Scientific research on EDS is ongoing, with numerous studies published in medical journals and databases like PubMed and OMIM. The EDS-related genes are cataloged and listed in the Genetic Testing Registry (GTR), with additional resources and information available through the Ehlers-Danlos Society and other relevant organizations. Classic and variant forms of EDS have been described in the scientific literature, along with specific case reports and investigations into related conditions and complications.
Overall, understanding the genetic basis and clinical manifestations of EDS is vital for accurate diagnosis, management, and counseling of affected individuals and their families. Ongoing research and collaboration among healthcare professionals and scientists continue to expand our knowledge of EDS and improve patient care.
Other Names for This Gene
The COL5A2 gene is also known by several other names, including:
- Ehlers-Danlos syndrome, classic type
- Ehlers-Danlos syndrome, type IIB
- Ehlers-Danlos syndrome, type IVA
- EDS, classic type
These names are commonly used in scientific research, genetic tests, and medical resources related to this gene and the associated diseases. They can be found in databases such as PubMed, OMIM, and the Genetic Testing Registry (GTR).
Additional articles and references about this gene and related genetic conditions can be found in scientific journals and listed in the databases mentioned above. Testing for changes and variant in this gene, as well as other collagen genes, is available through genetic testing laboratories.
Additional Information Resources
This section provides additional resources for information on the COL5A2 gene, genetic testing, and related conditions.
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on the COL5A2 gene, genetic changes associated with it, and related diseases. It includes information on the classic Ehlers-Danlos syndrome and other collagen-related conditions. Access OMIM at https://omim.org/.
- GeneTests: GeneTests is a website that provides a directory of genetic testing laboratories and genetic counselors, as well as information on genetic testing for various conditions. It offers a list of tests available for the COL5A2 gene and related diseases. Visit GeneTests at https://www.genetests.org/.
- Genetic Testing Registry: The Genetic Testing Registry (GTR) is a free online resource that provides information on genetic tests and their clinical validity, as well as information on laboratories offering the tests. GTR includes information on genetic testing for conditions associated with the COL5A2 gene. Access GTR at https://www.ncbi.nlm.nih.gov/gtr/.
- PubMed: PubMed is a database of scientific literature that includes references to articles and studies on the COL5A2 gene, collagen-related conditions, and other related topics. Search for relevant articles on PubMed at https://pubmed.ncbi.nlm.nih.gov/.
- Ehlers-Danlos Syndrome – Epub 2010: The “Ehlers-Danlos Syndrome – Epub 2010” is a publication that provides comprehensive information on Ehlers-Danlos syndrome and its subtypes, including those associated with the COL5A2 gene. Access the publication at https://www.ncbi.nlm.nih.gov/books/NBK1244/.
In addition to these resources, there may be other scientific and health registries, databases, and references available for further information on the COL5A2 gene, testing, and related conditions.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides information about various genetic tests that are available for the COL5A2 gene. These tests are of different types and can help individuals understand their genetic predisposition to certain health conditions.
In the GTR, you can find tests for the COL5A2 gene categorized under genetic testing for various diseases and conditions. These tests include but are not limited to:
- Classic Ehlers-Danlos syndrome
- Other collagen-related conditions
- Variant types
- Other related genetic diseases
The GTR provides references to scientific articles, publications, and other resources that provide more information on the tests and testing options available for the COL5A2 gene. This includes articles from PubMed and resources like OMIM and the Semin Wenstrup catalog for collagen-related diseases.
By accessing the GTR, individuals can find comprehensive information about the genetic tests available for the COL5A2 gene, including the specific diseases and conditions these tests can detect. Testing for the COL5A2 gene can help individuals understand their genetic risk and make informed decisions about their health.
Scientific Articles on PubMed
In the context of the COL5A2 gene, there are several scientific articles related to it listed on PubMed. The COL5A2 gene is a part of the collagens gene family and is associated with various diseases and syndromes. Testing for genetic changes in this gene can be helpful in diagnosing and understanding these conditions.
Some of the articles on PubMed provide additional information on the variant forms of the COL5A2 gene and their relationship to specific diseases. They also discuss the use of genetic testing and the names of other genes that may be involved in these conditions.
One of the classic syndromes associated with changes in the COL5A2 gene is Ehlers-Danlos syndrome. Many articles focus on this syndrome and the role of collagen in the development and function of connective tissues.
References to other resources, such as the OMIM database and the Epub ahead of print articles, can provide further information on the COL5A2 gene and related conditions. These resources can be helpful for researchers and healthcare professionals seeking to understand the genetic basis of various diseases.
In addition to the COL5A2 gene, other collagen genes and genetic changes are also mentioned in the articles on PubMed. These genes play a crucial role in maintaining the health and integrity of various tissues in the body.
The articles on PubMed also discuss the use of genetic tests for diagnosing collagen-related diseases and syndromes. They highlight the importance of using databases and registries to collect and share information on genetic variants and their clinical significance.
In summary, the scientific articles on PubMed provide valuable information on the COL5A2 gene and its role in collagen-related diseases and syndromes. They offer insights into the genetic changes associated with these conditions and the use of genetic testing for diagnosis. Researchers and healthcare professionals can find a wealth of information and resources in these articles to further their understanding of this important gene and its implications in various diseases.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides a comprehensive collection of information on a wide range of genetic conditions. This catalog lists various health-related syndromes, diseases, and other genetic variants that are associated with changes in the COL5A2 gene.
The COL5A2 gene is responsible for encoding type V collagen, a protein that plays a crucial role in the structure and function of connective tissues. Mutations or changes in this gene can lead to various genetic conditions, including Ehlers-Danlos syndrome, classical type.
The catalog serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic testing and related scientific articles. It provides additional references to other databases, tests, and resources available for more information on specific genetic conditions and testing options.
The catalog also includes links to PubMed and PubMed Central, where users can access the full-text versions of genetic articles for further exploration. The information provided in the catalog is regularly updated and reviewed by scientific experts in the field.
By using the catalog, individuals can access a wealth of information on the COL5A2 gene and its association with various genetic conditions. This resource is crucial for understanding the underlying mechanisms and implications of genetic changes and aids in the diagnosis and management of related diseases.
|Comprehensive listing of genes and diseases
|Information on health-related syndromes, diseases, and genetic variants
|References to additional resources and databases
|Links to PubMed and PubMed Central
|Regularly updated and reviewed by scientific experts
In summary, the Catalog of Genes and Diseases from OMIM is an essential tool for understanding the role of the COL5A2 gene in genetic conditions such as Ehlers-Danlos syndrome, classical type. It provides comprehensive information, resources, and references for researchers, healthcare professionals, and individuals interested in genetic testing and related scientific articles.
Gene and Variant Databases
When researching the COL5A2 gene and its associated variants, there are several databases and resources available to gather information. These databases provide references, articles, and other types of genetic information related to the gene. Some of the key databases and resources include:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic diseases and their associated genes. It features detailed information, references, and links to scientific articles.
- PubMed: PubMed is a vast collection of scientific articles and publications. It covers a wide range of topics, including genetic research on the COL5A2 gene and its variants. Searching for specific keywords, such as “COL5A2 gene” or “Ehlers-Danlos syndrome”, will yield relevant articles and studies.
- Variant Databases: Various databases specialize in collecting and cataloging genetic variants. These databases include the Human Gene Mutation Database (HGMD), ClinVar, and the Leiden Open Variation Database (LOVD). They provide information on specific variants and their associations with diseases and conditions.
- Collagen Type V: The COL5A2 gene belongs to the collagen family, specifically collagen type V. Additional information about collagens can be found in the Collagen Types and Collagen-related Genes (COL4A1, COL3A1, etc.) databases.
- Ehlers-Danlos Syndrome: Since changes in the COL5A2 gene can lead to Ehlers-Danlos syndrome and other related conditions, databases specific to these conditions may also contain information related to the gene. The Ehlers-Danlos Society and the Ehlers-Danlos Genetic Research Foundation are valuable resources for learning about this syndrome and related genetic testing.
- Genetic Testing: Genetic testing companies and laboratories may offer specific tests for the COL5A2 gene and related variants. These tests can provide information about an individual’s genetic predisposition to conditions associated with COL5A2 gene variations, such as Ehlers-Danlos syndrome. Companies such as Ambry Genetics, Invitae, and GeneDx offer various genetic tests.
Utilizing these databases and resources can help researchers and healthcare professionals find valuable information about the COL5A2 gene, its variants, and their associations with genetic diseases and conditions. It is essential to consult scientific articles and trusted resources for accurate and up-to-date information.
- Information on the COL5A2 gene – from OMIM. Available at: https://omim.org/entry/120190
- Articles on COL5A2 gene – from PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=COL5A2
- Semin, Wenstrup, et al. “COL5A2-related disorders” in GeneReviews. Available at: https://www.ncbi.nlm.nih.gov/books/NBK279210/
- Genetic Testing for COL5A2 gene – from Genetic Testing Registry. Available at: https://www.ncbi.nlm.nih.gov/gtr/tests/
- Additional resources on COL5A2 gene – listed in the Collagen Gene Variant Database. Available at: https://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=COL5A2
- Health conditions and diseases related to COL5A2 gene – from the Genetic and Rare Diseases Information Center (GARD). Available at: https://rarediseases.info.nih.gov/diseases/91/east-syndrome