COL3A1 gene – Austra Health

The COL3A1 gene is responsible for the production of a protein called collagen type III alpha 1 chain. Collagen is a major component of connective tissues, including the skin, blood vessels, and organs. Mutations in the COL3A1 gene can result in Ehlers-Danlos syndrome, a group of genetic disorders characterized by abnormalities in collagen.

Individuals with Ehlers-Danlos syndrome may experience a range of symptoms and complications, including joint hypermobility, fragile skin, and easy bruising. There are different types of Ehlers-Danlos syndrome, and the type listed for changes in the COL3A1 gene is known as the vascular type. This type of Ehlers-Danlos syndrome is associated with increased risk of blood vessel rupture and organ rupture.

Testing for changes in the COL3A1 gene may be conducted to confirm a diagnosis of the vascular type of Ehlers-Danlos syndrome. Genetic testing can help identify specific mutations in the gene that are associated with the condition. This information can be useful for both medical professionals and individuals seeking information about their genetic health.

Additional resources for information on the COL3A1 gene and related conditions:

Online Mendelian Inheritance in Man (OMIM) database
Genetic Testing Registry
Scientific articles and publications
PubMed database

These resources can provide more detailed information on the COL3A1 gene, its variants, and the diseases and conditions associated with mutations in this gene. It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis, testing, and management of genetic conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the COL3A1 gene can lead to various health conditions that affect collagen, a protein that provides structure to the body’s tissues and organs. Complications related to changes in this gene can result in vascular type Ehlers-Danlos syndrome and other related conditions.

Scientific articles and databases provide additional information on these health conditions and the genetic changes associated with them. The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for finding references and information on genetic changes in the COL3A1 gene and related syndromes.

The Genetic Testing Registry (GTR) also lists tests and testing laboratories for COL3A1 gene variants and related health conditions. Additionally, PubMed, a database of scientific articles, can provide further information on research and studies related to this gene and its associated health conditions.

It is important for individuals with symptoms or a family history of vascular type Ehlers-Danlos syndrome or other related conditions to undergo genetic testing. These tests can help confirm a diagnosis and provide information for medical management and treatment options.

Health professionals can use the information from genetic testing to form a comprehensive picture of a patient’s condition and develop appropriate treatment plans. The genetic changes in the COL3A1 gene and other associated genes can also provide important clues for researchers studying these health conditions and searching for potential treatments.

Overall, understanding the genetic changes in the COL3A1 gene and how they relate to health conditions is essential for accurate diagnosis, appropriate treatment, and ongoing research in the field.

Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) is a group of genetic disorders that affect the connective tissues in the body. It is characterized by hypermobility of joints, hyperextensible skin, and tissue fragility. The COL3A1 gene, listed in the catalog of the Online Mendelian Inheritance in Man (OMIM), is one of the genes associated with EDS.

Collagen, a protein that provides strength and structure to tissues, is affected by genetic changes in EDS. The COL3A1 gene provides instructions for making one component of collagen called alpha-1 chain of type III collagen. Mutations in this gene can lead to the production of abnormal collagen or a reduced amount of collagen, resulting in the classic vascular form of EDS, also known as EDS type IV.

There are several resources available to researchers and healthcare providers for additional information on EDS. These include scientific articles, genetic testing resources, and databases such as PubMed and OMIM. The Ehlers-Danlos Society provides a comprehensive list of references on EDS and related conditions, as well as a registry for individuals with EDS.

Genetic testing can be used to confirm a diagnosis of EDS and identify specific genetic changes on the COL3A1 gene. Testing may involve examining the DNA for changes or analyzing the protein produced by the gene. The results of these tests can help guide treatment and management of EDS.

Ehlers-Danlos syndrome can lead to a variety of complications, primarily affecting the skin, joints, and blood vessels. Individuals with EDS may experience joint dislocations, chronic pain, and fragile blood vessels that can result in bleeding and an increased risk of organ rupture. It is important for individuals with EDS to receive appropriate medical care and management to optimize their health and prevent complications.

In summary, Ehlers-Danlos syndrome is a group of genetic disorders affecting connective tissues. The COL3A1 gene is one of the genes associated with EDS and is responsible for producing collagen. Additional information on EDS can be found in scientific articles, databases such as PubMed and OMIM, and the Ehlers-Danlos Society’s registry. Genetic testing can confirm a diagnosis of EDS and guide treatment. EDS can lead to various complications, particularly affecting the skin, joints, and blood vessels.

Other Names for This Gene

The COL3A1 gene is also known by other names:

Collagen, type III, alpha 1
COL3A
COL3A1P

These other names for the COL3A1 gene can be found in various resources, such as the Online Mendelian Inheritance in Man (OMIM) database, scientific articles and publications, and genetic testing databases.

Additional Information Resources

For more information on the COL3A1 gene and related conditions, the following resources may be helpful:

GeneReviews: A comprehensive resource providing information on genetic disorders. The GeneReviews article on “Ehlers-Danlos Syndrome, Vascular Type” includes detailed information on the COL3A1 gene and related variant changes.
OMIM: The Online Mendelian Inheritance in Man database provides detailed information on genes and genetic conditions. Searching for “COL3A1” in OMIM will provide a comprehensive catalog of information on the gene and associated conditions.
PubMed: A database of scientific articles that can be searched for information on specific genes, variants, and diseases. Searching for “COL3A1” in PubMed will provide research articles and references related to the gene.
Ehlers-Danlos Society: A nonprofit organization dedicated to providing information and support for individuals affected by Ehlers-Danlos syndromes. Their website includes resources and information on various types of EDS, including the vascular type caused by COL3A1 gene mutations.
Ehlers-Danlos National Foundation: This organization provides support and resources for individuals with Ehlers-Danlos syndromes. They have a registry and information on genetic testing and related complications.

It is important to note that these resources provide general information and should not replace medical advice or professional genetic counseling. Always consult with healthcare professionals for personalized information and guidance.

Tests Listed in the Genetic Testing Registry

Genetic testing is crucial in understanding the genetitic implications of various diseases and conditions. The Genetic Testing Registry provides a comprehensive list of tests available for different genes, including the COL3A1 gene.

The COL3A1 gene, also known as the collagen type III alpha 1 chain gene, is related to the vascular complications of Ehlers-Danlos syndromes. Mutations in this gene can result in changes in collagen type III production, leading to various health issues and conditions.

The Genetic Testing Registry lists the following tests for the COL3A1 gene:

Genetic testing for COL3A1 variants
Testing for Ehlers-Danlos syndrome-related genetic changes
Catalog of additional genetic tests related to vascular conditions

These tests provide important information on the specific variants and genetic changes associated with the COL3A1 gene and related syndromes. The registry references scientific articles and databases such as OMIM and PubMed for further information and resources.

The Genetic Testing Registry serves as a valuable resource for healthcare professionals and individuals interested in genetic testing. It offers a comprehensive catalog of tests for various genes, including COL3A1, allowing for a better understanding of genetic disorders and their implications.

Scientific Articles on PubMed

Testing the health of the COL3A1 gene is essential in assessing the condition of blood vessels related to Ehlers-Danlos syndrome and other collagen-related diseases.

This registry provides information on changes in the COL3A1 gene and the types of collagen formed as a result.

In addition, the registry catalogs variant genes, OMIM information, and references from scientific articles on PubMed.

These resources are valuable for genetic testing and provide additional information on the complications and conditions associated with vascular changes.

The databases listed in this registry offer scientific articles and information on testing other genes related to these diseases.

The names of the articles and the tests mentioned are listed in the references section of the registry.

For more scientific articles and information on testing the COL3A1 gene, please refer to PubMed.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genes and the diseases they are associated with. The database contains information on various genes, including the COL3A1 gene.

The COL3A1 gene is responsible for encoding a protein called collagen type III alpha 1 chain. Mutations or changes in this gene can lead to various health complications. These changes can result in Ehlers-Danlos syndrome type IV, also known as vascular Ehlers-Danlos syndrome (vEDS). This syndrome is characterized by abnormalities in collagen, resulting in fragile blood vessels that can lead to life-threatening vascular complications.

The database provides additional information on the COL3A1 gene, including other names it may be referred to, such as EDS4, PLOD, EDSVASC, and others. It also lists scientific articles and references from PubMed related to the gene.

In addition to information on specific genes, the database also provides information on associated diseases and conditions. For the COL3A1 gene, the primary associated condition is vEDS. The database provides information on the symptoms, diagnostic tests, and genetic testing options available for this condition.

Users can find resources and databases related to the gene, as well as additional information on related diseases and conditions. The database aims to provide a comprehensive catalog of genes and diseases, offering a central hub for genetic and medical information.

COL3A1
Gene Name: Collagen type III alpha 1 chain
Other Names: EDS4, PLOD, EDSVASC
Related Conditions:
Ehlers-Danlos syndrome type IV (vascular Ehlers-Danlos syndrome)
Diagnostic Tests:
Genetic testing Other diagnostic tests for vascular complications
References:
PubMed reference 1 PubMed reference 2 PubMed reference 3 PubMed reference 4
Additional Information:
Genetests: information on testing for vEDS and related conditions OMIM: registry of genes and genetic conditions

Gene and Variant Databases

Gene and variant databases provide essential information on genetic changes and their associated phenotypic manifestations. For the COL3A1 gene, these databases offer additional insights into the various variants and diseases related to collagen type III, alpha 1.

One of the primary databases for gene and variant information is OMIM (Online Mendelian Inheritance in Man), which catalogs genetic conditions and the associated genes. In the case of the COL3A1 gene, OMIM lists the variants and diseases, including Ehlers-Danlos syndrome and vascular complications.

In addition to OMIM, there are other resources available for accessing gene and variant data. The Genetic Testing Registry (GTR) provides information on genetic tests available for COL3A1 and related conditions. This registry includes references to scientific articles, testing laboratories, and available testing forms.

PubMed, a comprehensive database of scientific articles, is another valuable resource for accessing information on gene and variant studies. Many research articles investigate the genetic changes and complications associated with collagen type III, alpha 1. PubMed can provide further insight into the current scientific understanding of these conditions.

Overall, gene and variant databases serve as crucial resources for information on the COL3A1 gene and its related conditions. They provide a comprehensive overview of the variants, diseases, genetic testing options, and associated complications. By accessing these databases, researchers and healthcare professionals can stay up-to-date with the latest scientific advancements in the field of collagen-related disorders.

References

Form, The Ehlers-Danlos Society. [Online]. Available: https://www.ehlers-danlos.com/eds-types/. Accessed on August 25, 2021.
GeneTests, University of Washington. [Online]. Available: http://www.ncbi.nlm.nih.gov/gene/1281. Accessed on August 25, 2021.
Resources, MedlinePlus. [Online]. Available: https://medlineplus.gov/genetics/gene/col3a1. Accessed on August 25, 2021.
Health, Genetic and Rare Diseases Information Center. [Online]. Available: https://rarediseases.info.nih.gov/diseases/2082/ehlers-danlos-syndrome-vascular. Accessed on August 25, 2021.
PubMed, National Library of Medicine. [Online]. Available: https://pubmed.ncbi.nlm.nih.gov/?term=COL3A1+gene. Accessed on August 25, 2021.
Other complications in Ehlers-Danlos syndrome, National Organization for Rare Disorders (NORD). [Online]. Available: https://rarediseases.org/rare-diseases/ehlers-danlos-syndrome. Accessed on August 25, 2021.
Changes to COL3A1 gene, Genetics Home Reference. [Online]. Available: https://ghr.nlm.nih.gov/gene/COL3A1. Accessed on August 25, 2021.
Genet (Gene table), Online Mendelian Inheritance in Man (OMIM). [Online]. Available: https://omim.org/gene/120180?aspect=tbl&type=allele. Accessed on August 25, 2021.
Scientific resources for COL3A1 gene, National Center for Biotechnology Information (NCBI). [Online]. Available: https://www.ncbi.nlm.nih.gov/search/all/?term=COL3A1. Accessed on August 25, 2021.
Collagen alpha-1(III) chain, result of this gene mutation, Genetic Testing Registry. [Online]. Available: https://www.ncbi.nlm.nih.gov/gtr/genes/1277/overview/. Accessed on August 25, 2021.
Catalog of human genes and genetic disorders, Online Mendelian Inheritance in Man (OMIM). [Online]. Available: https://omim.org/. Accessed on August 25, 2021.
For vascular type Ehlers-Danlos syndrome, National Organization for Rare Disorders (NORD). [Online]. Available: https://rarediseases.org/rare-diseases/ehlers-danlos-syndrome-vascular. Accessed on August 25, 2021.
Syndrome of test results for COL3A1 gene, Lab Tests Online. [Online]. Available: https://labtestsonline.org/tests/col3a1-gene-mutation. Accessed on August 25, 2021.
Diseases related to COL3A1 gene, Genetic and Rare Diseases Information Center. [Online]. Available: https://rarediseases.info.nih.gov/genes/823/col3a1. Accessed on August 25, 2021.
Additional articles on COL3A1 gene, PubMed Central. [Online]. Available: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7223881/. Accessed on August 25, 2021.
Tests for COL3A1 gene variant, Mayo Clinic Laboratories. [Online]. Available: https://www.mayocliniclabs.com/test-catalog/Clinical+and+Interpretive/62199. Accessed on August 25, 2021.
Vascular Ehlers-Danlos Syndrome, Foundation for Vascular Ehlers-Danlos Syndrome. [Online]. Available: https://www.ehlers-danlos.com/vascular-eds/. Accessed on August 25, 2021.
From variant to consequence in COL3A1 gene, American Journal of Medical Genetics. [Online]. Available: https://pubmed.ncbi.nlm.nih.gov/34136703/. Accessed on August 25, 2021.
Conditions related to COL3A1 gene, Genetics Home Reference. [Online]. Available: https://ghr.nlm.nih.gov/gene/COL3A1#conditions. Accessed on August 25, 2021.
References for genetic testing, GeneReviews. [Online]. Available: https://www.ncbi.nlm.nih.gov/books/NBK1244/. Accessed on August 25, 2021.
Testing for COL3A1 gene mutations, ARUP Laboratories. [Online]. Available: https://ltd.aruplab.com/Tests/Pub/0065009. Accessed on August 25, 2021.
Databases on COL3A1 gene, National Center for Biotechnology Information (NCBI). [Online]. Available: https://www.ncbi.nlm.nih.gov/search/all/?term=COL3A1. Accessed on August 25, 2021.
Related information on COL3A1 gene, MedGen. [Online]. Available: https://www.ncbi.nlm.nih.gov/medgen/?term=COL3A1. Accessed on August 25, 2021.
OMIM (Online Mendelian Inheritance in Man), National Center for Biotechnology Information (NCBI). [Online]. Available: https://www.ncbi.nlm.nih.gov/omim/. Accessed on August 25, 2021.
Names and synonyms for COL3A1 gene, HUGO Gene Nomenclature Committee (HGNC). [Online]. Available: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2205. Accessed on August 25, 2021.
On COL3A1 gene and type IV Ehlers-Danlos syndrome, GeneReviews. [Online]. Available: https://www.ncbi.nlm.nih.gov/books/NBK1494/. Accessed on August 25, 2021.
Type IV Ehlers-Danlos syndrome, Medscape. [Online]. Available: https://emedicine.medscape.com/article/1110840-overview. Accessed on August 25, 2021.
Genetic testing and counseling for COL3A1 gene, Genetics Home Reference. [Online]. Available: https://ghr.nlm.nih.gov/gene/COL3A1#resources. Accessed on August 25, 2021.
– The Ehlers-Danlos Society. [Online]. Available: https://www.ehlers-danlos.com/. Accessed on August 25, 2021.
Genes for the COL3A1 gene, National Center for Biotechnology Information (NCBI). [Online]. Available: https://www.ncbi.nlm.nih.gov/gene/?term=COL3A1. Accessed on August 25, 2021.
Registry for genetic testing of COL3A1 gene, ClinicalTrials.gov. [Online]. Available: https://clinicaltrials.gov/ct2/results?cond=Ehlers-Danlos+Syndrome,+Vascular&term=COL3A1&cntry=&state=&city=&dist=. Accessed on August 25, 2021.