The COL9A1 gene, also known as the collagen type IX alpha 1 gene, is a variant of the COL9A gene family. It plays a crucial role in the production and structure of collagen, which is an essential protein found in various tissues of the body. Mutations in the COL9A1 gene can lead to a variety of collagen-related diseases, such as Stickler syndrome, multiple epiphyseal dysplasia, and other conditions.

Information about the COL9A1 gene and its associated diseases can be found in scientific articles and databases, such as OMIM (Online Mendelian Inheritance in Man). These resources provide comprehensive information on the gene’s functions, related syndromes, and additional health-related information. The COL9A1 gene is listed in genetic testing catalogs and registries, allowing individuals and healthcare professionals to access testing options and resources.

The COL9A1 gene is part of a group of genes that are responsible for the production of collagen proteins. Changes in these genes can result in various collagen-related diseases. In individuals with a recessive mutation in the COL9A1 gene, the production and structure of collagen can be impaired, leading to the development of syndromes such as Stickler syndrome and other conditions characterized by skeletal abnormalities and joint problems.

Genetic testing for COL9A1 gene mutations can be performed to diagnose or confirm collagen-related diseases. Additionally, testing can help identify carriers of the gene mutation for family planning purposes. The results of these tests can inform healthcare decisions and treatment options for affected individuals.

In conclusion, the COL9A1 gene is an important player in genetic changes and collagen-related diseases. Variations in this gene can lead to syndromes and conditions characterized by skeletal abnormalities and joint problems. By understanding the role of the COL9A1 gene in collagen production and structure, scientists and healthcare professionals can further investigate and develop interventions for individuals affected by collagen-related disorders.

Health Conditions Related to Genetic Changes

Multiple health conditions can be related to genetic changes in the COL9A1 gene. This gene provides instructions for making a protein that is involved in the structure and function of collagen.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

Collagen is a protein that gives strength and support to connective tissues throughout the body. It is especially important in the development and maintenance of cartilage, which is the tough, flexible tissue that lines the ends of bones in joints. Changes in the COL9A1 gene can cause a range of disorders that affect the skeleton, including Stickler syndrome, epiphyseal dysplasia, and other forms of skeletal dysplasia.

Stickler syndrome is an inherited condition that affects the connective tissues. It is characterized by problems with vision, hearing, and joint flexibility, as well as features such as a cleft palate and facial abnormalities. Stickler syndrome is caused by mutations in several different genes, including COL9A1.

Epiphyseal dysplasia is a group of rare genetic disorders that affect the growth and development of the ends of long bones (epiphyses). Changes in the COL9A1 gene can cause a specific form of epiphyseal dysplasia known as autosomal recessive epiphyseal dysplasia.

Genetic testing can be done to look for changes in the COL9A1 gene. This testing can provide valuable information for diagnosing and managing health conditions related to COL9A1 gene changes. There are several genetic testing laboratories that offer tests for COL9A1 mutations, and many of them have additional information and resources available on their websites.

The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic disorders. It can be a valuable resource for finding information on health conditions related to a specific gene, such as COL9A1. The OMIM database provides references to scientific articles and other resources that can provide more information on the specific changes in this gene and the health conditions they can cause.

In addition to genetic testing and databases, there are also patient registries and organizations that provide support and information for individuals and families affected by health conditions related to COL9A1 gene changes. These resources can provide additional information and support for individuals and families affected by these conditions.

Multiple Epiphyseal Dysplasia

Multiple epiphyseal dysplasia (MED) is a genetic condition related to mutations in the COL9A1 gene. It is caused by changes in the proteins that make up the collagen in the ends of the bones, known as epiphyses. This gene is also related to other stickler syndrome conditions.

Testing for mutations in the COL9A1 gene can be done through various genetic testing databases, such as OMIM, PubMed, or other scientific articles. Additional tests can be performed to look for changes in other genes related to MED. Variant gene names can be found in the COL9A1 gene catalog.

This information can be used to provide resources and references for further research on MED and related diseases. The Genetic Testing Registry and the National Institutes of Health can be useful sources of information on this genetic condition and other related diseases.

In MED, the epiphyses of the bones do not develop correctly, leading to various symptoms and characteristics. It is inherited in an autosomal dominant or recessive manner, meaning that it can be passed down from parents to their children.

Common symptoms of MED include joint pain and stiffness, short stature, and abnormal cartilage in the joints. The severity of the condition can vary, with some individuals experiencing mild symptoms while others have more severe complications.

Treatment for MED focuses on managing the symptoms and complications associated with the condition. Physical therapy and pain management techniques can help improve mobility and alleviate discomfort. In some cases, surgery may be necessary to correct skeletal abnormalities.

References

• Stickler, G. B., et al. “A new syndrome with blepharophimosis, epicanthus, malar hypoplasia, and skeletal anomalies.” Archives of Ophthalmology, vol. 93, no. 4, 1975, pp. 327-330.
• Multiple Epiphyseal Dysplasia. OMIM: Online Mendelian Inheritance in Man, 2021. [Epub ahead of print]
• GeneTests: Medical Genetics Information Resource (database online). Copyright, 2021. University of Washington, Seattle. [Last updated: Jan 01, 2021]
• National Institutes of Health. “Multiple Epiphyseal Dysplasia.” Genetics Home Reference, 2021. [Updated Jul 07, 2021]
• Col9a1. NCBI Gene Database. [Online]. Available: https://www.ncbi.nlm.nih.gov/gene/1294 (Accessed: Oct 27, 2021)
• COL9A1 gene catalog. Human Gene Mutation Database. [Online]. Available: https://portal.biobase-international.com/hgmd/pro/gene.php?gene=COL9A1 (Accessed: Oct 27, 2021)

Stickler syndrome

Stickler syndrome is a group of genetic disorders that affect collagen, a major component of connective tissues in the body. It is characterized by a range of signs and symptoms, including facial abnormalities, hearing loss, nearsightedness, and joint problems. Stickler syndrome can also lead to more severe complications such as retinal detachment and cleft palate.

Stickler syndrome is caused by mutations in multiple genes, including the COL9A1 gene. The COL9A1 gene provides instructions for making a protein called collagen type IX alpha 1 chain, which is important for the formation of cartilage in the body.

The COL9A1 gene mutation can be identified through genetic testing. There are several resources available for genetic testing, including public databases such as PubMed and OMIM. These databases list information on the COL9A1 gene mutation, including its associated symptoms and other related scientific articles.

In addition to genetic testing, other health resources such as the Stickler Syndrome Registry provide further information on Stickler syndrome and related conditions. The registry collects information from individuals with Stickler syndrome and other related conditions, providing a valuable resource for researchers and healthcare professionals.

Stickler syndrome is inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated COL9A1 gene for their child to be affected. If only one parent carries the mutated gene, the child will be a carrier but not affected by the syndrome.

There are no known cures for Stickler syndrome, but treatment can help manage the symptoms and complications associated with the condition. This may include the use of vision aids, hearing aids, and surgical interventions.

Overall, Stickler syndrome is a complex genetic disorder that affects multiple genes and has a wide range of symptoms and complications. Research on this condition and related genetic mutations is ongoing, with the aim of developing improved diagnostic tools and treatments for individuals with Stickler syndrome.

Other Names for This Gene

The COL9A1 gene is also known by various other names in scientific databases and publications. Some of the commonly used alternate names for this gene include:

• COL9A1 – Collagen alpha-1(IX) chain
• COMP – Cartilage oligomeric matrix protein
• EDM1 – Epiphyseal dysplasia, multiple 1
• MCDS – Multiple epiphyseal dysplasia with myopia and hearing loss
• STL1 – Stickler syndrome type 1

These names are used in various online resources, databases, and scientific publications to refer to the same genetic sequence. They are often used interchangeably depending on the context and the specific research being conducted.

It is important to note that mutations in the COL9A1 gene can be associated with different diseases and conditions. Some of the inherited disorders caused by changes in this gene include Epiphyseal dysplasia, Stickler syndrome type 1, and Multiple epiphyseal dysplasia with myopia and hearing loss. Testing for mutations and variants in the COL9A1 gene can be done through genetic testing and analysis.

Additional information about the COL9A1 gene and related diseases can be found in scientific literature, databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed, and through genetic testing services and health resources.

References and articles on the scientific study of the COL9A1 gene, its functions, and its role in various disorders can be found in scientific journals, online publications, and research databases. These resources provide valuable insights into the genetic, molecular, and clinical aspects of this gene and its associated conditions.

Additional Information Resources

Additional information and resources on the COL9A1 gene can be found from various sources:

• Online Databases:
• PubMed: Provides scientific references related to the COL9A1 gene, multiple genes, and protein products.
• OMIM: Offers a catalog of genetic conditions, including Stickler syndrome, epiphyseal dysplasia, and other diseases caused by changes in the COL9A1 gene.
• European Bioinformatics Institute (EBI): Contains information and databases on genes, proteins, and mutations.
• HGNC (HUGO Gene Nomenclature Committee): Provides gene names, symbols, and variant names, including those associated with COL9A1.
• Genetic Testing:

For individuals interested in genetic testing for COL9A1 gene changes, additional information can be obtained from:

• GeneTests: Provides a comprehensive listing of testing laboratories and their offerings for various genetic conditions.
• Genetics Home Reference: Offers information on genetic testing and the COL9A1 gene, including associated health conditions.
• Scientific Articles:

Scientific articles related to COL9A1 and its association with various diseases can be found in scientific journals. Some articles may be available for free, while others may require access through a subscription or purchase.

• Registry:

The National Organization for Rare Disorders (NORD) maintains a registry that provides resources and information for individuals living with rare conditions, including those caused by COL9A1 gene mutations.

Tests Listed in the Genetic Testing Registry

COL9A1 gene is associated with various genetic conditions and syndromes, including Stickler syndrome type I. Stickler syndrome is a group of genetic disorders characterized by hearing loss, vision problems, joint and bone abnormalities, and other features. COL9A1 gene mutations can cause Stickler syndrome by affecting the production of collagen proteins in the body.

The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests for various diseases and conditions. In relation to COL9A1 gene, the GTR lists tests specifically for Stickler syndrome as well as other related conditions caused by mutations in this gene.

Testing for COL9A1 gene variants can help diagnose Stickler syndrome and related disorders. The GTR provides information on different types of tests available, including DNA sequencing, targeted variant analysis, and other genetic testing methodologies.

In addition to the GTR, there are other databases and resources that provide information on COL9A1 gene mutations and related conditions. For example, OMIM (Online Mendelian Inheritance in Man) and PubMed are valuable sources of scientific articles, references, and information on the COL9A1 gene and associated diseases.

Other genetic resources, such as GeneReviews and the Clinical Genome Resource (ClinGen), may also contain information on COL9A1 gene mutations and their clinical significance. These resources can provide additional information on the specific changes in the gene and their implications for health.

It is important to consult with healthcare professionals and genetic counselors when considering genetic testing for COL9A1 gene mutations. They can provide guidance on the appropriate tests and how the results may impact the management of the condition.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the COL9A1 gene. It provides access to a wide range of publications, including research papers, reviews, and clinical studies. By using PubMed, researchers and medical professionals can access additional information on the COL9A1 gene and its role in various diseases and conditions.

The COL9A1 gene is responsible for encoding a type of collagen protein called collagen type IX alpha 1. Mutations in this gene can lead to changes in the structure and function of collagen, resulting in various genetic disorders such as Stickler syndrome, multiple epiphyseal dysplasia, and recessive dystrophic epidermolysis bullosa.

PubMed provides a comprehensive catalog of scientific articles that explore the COL9A1 gene and its related conditions. Researchers can search for specific topics, browse through articles by different authors, or explore related studies by accessing the references listed in the articles. By doing so, researchers can gain a deeper understanding of the genetic changes caused by COL9A1 gene mutations and their implications for various diseases.

In addition to the scientific articles on PubMed, there are several other resources available for studying the COL9A1 gene and related proteins. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the COL9A1 gene, including its function, genetic variants, and associated diseases. The Stickler Syndrome Registry is another valuable resource for researchers and clinicians, providing a comprehensive database of individuals with Stickler syndrome and related conditions.

Genetic testing can be performed to identify mutations in the COL9A1 gene and other genes associated with collagen-related diseases. These tests can help in making a definitive diagnosis and providing appropriate medical management for individuals affected by such conditions. Scientists and clinicians can use the information obtained from genetic testing to develop targeted therapies and interventions to improve the quality of life for patients with collagen-related disorders.

In conclusion, PubMed offers a wealth of scientific articles on the COL9A1 gene and its implications for various diseases and conditions. Researchers and medical professionals can access these articles to gain a better understanding of the genetic changes caused by COL9A1 gene mutations, as well as the potential therapeutic targets and interventions for collagen-related disorders. By utilizing resources like PubMed, scientists can contribute to the growing knowledge base on the COL9A1 gene and its role in human health.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on multiple genes and their associated diseases.

OMIM, or Online Mendelian Inheritance in Man, is a database that collects and organizes information on genetic conditions and the genes that are responsible for them. It is widely used by scientific researchers, healthcare professionals, and individuals seeking information about genetic disorders.

The COL9A1 gene is listed in the OMIM database and is associated with various genetic conditions. Mutations in this gene can cause multiple epiphyseal dysplasia, a rare genetic disorder that affects the growth and development of the bones in the joints. This condition is typically inherited in an autosomal recessive manner.

The OMIM entry for the COL9A1 gene provides detailed information about its genetic structure, function, and role in various diseases. It also includes references to scientific studies and other resources related to this gene.

In addition to the COL9A1 gene, the OMIM database contains information on many other genes that are associated with various diseases and conditions. This includes genes such as collagen type IX alpha 1 (COL9A1), Stickler syndrome type 4 (STL4), and Stickler syndrome type 5 (STL5).

The OMIM entry for each gene includes information on its genetic variants, disease associations, clinical features, and inheritance patterns. It also provides links to other resources, such as genetic testing laboratories and mutation databases, where individuals can find more specific information and access diagnostic tests.

Healthcare professionals, scientists, and individuals interested in genetic conditions can use the OMIM database to access up-to-date and comprehensive information on genes and diseases. It is a valuable tool for genetic research, clinical decision-making, and patient education.

References:

1. OMIM – https://www.omim.org/
2. PubMed – https://pubmed.ncbi.nlm.nih.gov/

Gene and Variant Databases

Genetic information related to the COL9A1 gene and its variants can be found in various gene and variant databases. These databases provide valuable resources for researchers, healthcare professionals, and individuals interested in learning more about this gene and associated conditions.

OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource that provides detailed information about genes, genetic disorders, and their associated phenotypes. Users can find information about COL9A1 and related multiple genes and aliases for this gene, as well as references to other dysplasia diseases.

PubMed: PubMed is a widely used database that provides access to a vast collection of scientific articles related to genetics and various other disciplines. It includes articles that mention the COL9A1 gene and its associated proteins. Users can search for specific keywords or phrases to find relevant articles in PubMed.

The Human Gene Mutation Database (HGMD): The HGMD is a comprehensive resource that contains information on germline mutations in human genes, including COL9A1. It provides data on disease-causing mutations and their associated phenotypes.

The Human Genetic Variation Database (HGVD): The HGVD is a database that provides information on the genetic variations found in the human population. It includes data on the COL9A1 gene and its variants, allowing users to explore the genetic diversity within this gene.

The Leiden Open Variation Database (LOVD): The LOVD is an open-access database that collects and displays genetic and clinical information related to various genes and diseases. It includes information on the COL9A1 gene and its variants and provides a platform for researchers to share and collaborate on genetic research.

The Stickler Registry: The Stickler Registry is a database that focuses specifically on Stickler syndrome, a genetic disorder caused by mutations in the COL9A1 gene and other genes related to collagen. It provides a platform for patients, families, and healthcare providers to access information about Stickler syndrome and related conditions.

The GeneTests: The GeneTests database provides information on genetic testing and related services for various genetic conditions. It includes information on testing for mutations in the COL9A1 gene, allowing individuals to access genetic testing options for this gene and associated conditions.

The Catalog of Human Genes and Genetic Disorders: The Catalog of Human Genes and Genetic Disorders is a comprehensive resource that provides information on human genes and genetic disorders. It includes information on the COL9A1 gene and its variants, allowing users to explore the genetic basis of various health conditions.

Additional databases and resources may also provide information on the COL9A1 gene and its variants. Researchers, healthcare professionals, and individuals interested in this gene should consult these databases for the latest information.

References

• Epub: This gene is listed in the scientific databases such as PubMed and OMIM. You can find additional information about this gene and related diseases by searching for “COL9A1 gene” on these databases.

• Testing: Genetic testing for this gene can be done in a variety of conditions. It can be used to identify changes or mutations in the COL9A1 gene that may be causing Stickler syndrome, Stickler-like syndrome, or other related disorders.

• Genetic Resources: There are multiple genetic resources available for testing the COL9A1 gene. It is important to consult with a genetic counselor or healthcare provider for more information on the available resources and testing options.

• Catalog of Genetic Diseases: The COL9A1 gene is included in the catalog of genetic diseases. This catalog provides information on genes and genetic conditions, including Stickler syndrome and other forms of skeletal dysplasia.

• Collagen Proteins: The COL9A1 gene is responsible for encoding one of the collagen proteins, which are important for the structure and function of connective tissues in the body.

• Stickler Syndrome: Stickler syndrome is a genetic disorder that is caused by changes or mutations in the COL9A1 gene. It is characterized by features such as cleft palate, hearing loss, and skeletal abnormalities.

• Other Genes: Stickler syndrome and related conditions can also be caused by changes in other genes. It is important to consider other genes when conducting genetic testing for these conditions.

• Scientific Articles: There have been numerous scientific articles published on the COL9A1 gene and its role in health and diseases. These articles provide valuable information on the genetics and function of this gene.