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The COL9A2 gene is one of the genes associated with health conditions in humans, specifically related to collagen proteins. Collagen is a type of protein that provides structure and support to various tissues in the body, including cartilage, intervertebral discs, and the ends of bones (epiphyseal ends). Mutations and changes in this gene can cause multiple genetic diseases, such as Stickler syndrome and Stickler-like syndrome, which are characterized by a range of symptoms including hearing loss, joint problems, and vision issues.

Information on the COL9A2 gene can be found in various genetic databases, such as OMIM (Online Mendelian Inheritance in Man), which provides detailed information on genetic disorders. Additional resources include scientific articles, PubMed references, and other registries and catalogs dedicated to the study of genes and genetic diseases. These resources can be helpful for further research, genetic testing, and understanding the underlying causes and mechanisms of diseases associated with the COL9A2 gene.

One specific condition caused by changes in the COL9A2 gene is a type of skeletal dysplasia called COL9A2-related disc degeneration. This disease affects the intervertebral discs, leading to degeneration and deterioration of these structures. The exact variant or mutation in the COL9A2 gene may determine the severity and specific characteristics of the disease.

Overall, the COL9A2 gene plays a significant role in the development and maintenance of connective tissues, specifically related to collagen proteins. It is important to further study and understand the function and impact of this gene to improve the diagnosis, treatment, and management of diseases associated with its mutations and variants.

The COL9A2 gene, also known as the α2(IX) collagen gene, is associated with various health conditions caused by genetic changes. Mutations in this gene can lead to disorders such as multiple epiphyseal dysplasia and intervertebral disc disease.

Multiple epiphyseal dysplasia is a genetic disorder characterized by abnormal development of the ends of long bones, leading to joint pain and stiffness. Intervertebral disc disease, on the other hand, refers to degeneration of the discs between the vertebrae, often causing back pain and spinal problems.

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Genetic testing can be conducted to identify changes or mutations in the COL9A2 gene. These tests can help diagnose related diseases and provide information for proper treatment and management.

There are several resources available for information on the COL9A2 gene and related health conditions. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genes, genetic variants, and related diseases. The Genetic Testing Registry offers a catalog of genetic tests available for this gene. PubMed, a scientific database, lists articles and references for further research on the topic.

Other genes may also be involved in these health conditions. Stickler syndrome, for example, is another genetic disorder that affects collagen, and it can be caused by mutations in different genes. Additional databases and resources can be consulted to explore genetic changes and conditions related to the COL9A2 gene.

In conclusion, the COL9A2 gene is associated with multiple epiphyseal dysplasia and intervertebral disc disease. Genetic changes or mutations in this gene can cause these health conditions. By conducting genetic testing and referring to various resources, healthcare professionals can gain a better understanding of the genetic factors contributing to these diseases.

Multiple epiphyseal dysplasia

Multiple epiphyseal dysplasia (MED) is a genetic disorder related to mutations in the COL9A2 gene. It is also referred to as Stickler syndrome type 1. MED is characterized by changes in the ends of bones, resulting in abnormal growth patterns and joint pain.

This condition is caused by mutations in the COL9A2 gene, which codes for the α2(IX) chain of collagen protein. These changes in the gene can lead to abnormal collagen production in the cartilage of joints and intervertebral discs.

Multiple epiphyseal dysplasia is one of several conditions caused by mutations in COL9A2. Other related conditions include intervertebral disc disease and other forms of skeletal dysplasia.

For additional information on multiple epiphyseal dysplasia and related conditions, the following resources can be helpful:

  • OMIM (Online Mendelian Inheritance in Man) is a comprehensive database of genetic diseases. The entry for COL9A2 provides in-depth information on the gene and associated conditions.
  • PubMed is a database of scientific articles. Searching for “COL9A2” or “multiple epiphyseal dysplasia” in PubMed will yield many relevant articles on the topic.
  • Genetic Testing Registry is a resource for information on genetic testing labs. This registry lists labs that offer tests for mutations in the COL9A2 gene and other related genes.
  • The Seattle Children’s Databases contain information on genetic diseases and associated genes. The database on COL9A2 provides details on the gene and associated conditions, including multiple epiphyseal dysplasia.
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In conclusion, multiple epiphyseal dysplasia is a genetic disorder caused by mutations in the COL9A2 gene. It is characterized by changes in the ends of bones and can lead to joint pain and abnormal growth. There are several resources available for further information on this condition and related genes.

Stickler syndrome

Stickler syndrome is a genetic disease characterized by multiple connective tissue abnormalities. It was first described in 1965. The disease is caused by mutations in the COL9A2 gene.

Stickler syndrome is a rare disorder that affects various parts of the body. It is associated with vision problems, hearing loss, joint problems, and facial abnormalities. The severity and specific symptoms can vary widely among affected individuals.

Stickler syndrome is inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. However, some people with Stickler syndrome have no history of the disorder in their family, which suggests that it may also occur as a new mutation.

The COL9A2 gene provides instructions for making a protein called alpha 2 chain of type IX collagen (α2IX). This protein is a component of collagen, which is a major structural protein in connective tissues such as cartilage and the gel-like substance that fills the eyeball.

The mutations in the COL9A2 gene that cause Stickler syndrome result in the production of an abnormal α2IX collagen. This abnormal collagen disrupts the structure of connective tissues throughout the body, leading to the signs and symptoms of the disorder.

Resources for additional information:

  • OMIM: Stickler syndrome information on the Online Mendelian Inheritance in Man (OMIM) database.
  • Gene: Information about the COL9A2 gene in the Gene database on the National Center for Biotechnology Information (NCBI) website.
  • PubMed: Scientific articles about Stickler syndrome and the COL9A2 gene.
  • Seattle Children’s Stickler Syndrome Program: Information and resources for patients, families, and healthcare providers.

Intervertebral disc disease

Intervertebral disc disease is a condition that affects the discs located between the vertebrae of the spine. It is a complex and multifactorial disease that can cause pain and disability in affected individuals. One genetic variant that has been associated with intervertebral disc disease is the COL9A2 gene.

The COL9A2 gene, also known as alpha 2(IX) collagen, is a key component of the collagen protein family. Collagens are essential for the structural integrity of various tissues, including the intervertebral discs. Mutations in the COL9A2 gene can lead to changes in the structure and function of the collagen proteins, resulting in intervertebral disc degeneration.

The Stickler syndrome is a disorder that is caused by mutations in genes related to collagen. It is characterized by a variety of symptoms, including hearing loss, vision problems, and joint and bone abnormalities. Mutations in the COL9A2 gene have been identified in individuals with Stickler syndrome who also exhibit intervertebral disc disease.

There are several resources available for testing and genetic counseling for individuals with intervertebral disc disease. The Online Mendelian Inheritance in Man (OMIM) database provides information on the COL9A2 gene, including its associated diseases and genetic variants. The Seattle Health Gene Testing Registry is another valuable resource for finding laboratories that offer testing for specific genes or diseases.

In addition to the COL9A2 gene, there are multiple other genes that have been implicated in intervertebral disc disease. These include COL9A1 and COL9A3, which are also involved in collagen-related diseases. The exact role of these genes in intervertebral disc disease is not fully understood and further research is needed to elucidate their function.

Scientific articles and references on intervertebral disc disease can be found in databases such as PubMed. These publications provide valuable information on the genetics, mechanisms, and potential treatments for the disease.

Understanding the genetic factors underlying intervertebral disc disease is important for developing targeted therapies and improving patient care. By studying the COL9A2 gene and other related genes, researchers can uncover new insights into the causes and potential treatments for this debilitating condition.

Other Names for This Gene

The COL9A2 gene is also known by other names in various databases, which may be related to specific conditions:

  • Stickler syndrome type 3
  • Epiphyseal dysplasia, multiple, 6
  • Intervertebral disc disease, Becker type
  • COL9A2 gene variant
  • α2(IX)
  • Procollagen, type IX, alpha 2

Additional information, scientific articles, and resources on this gene can be found in the following databases:

  • OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders
  • PubMed – a resource for scientific research articles
  • Seattle Children’s Hospital Gene Discovery and Testing Registry – a database for genetic testing

These databases contain information on the genetic changes, mutations, and conditions associated with the COL9A2 gene. Testing for variants in this gene can be done through various genetic tests available from healthcare providers and laboratories.

For more information, you can refer to the following references:

  1. Citation 1
  2. Citation 2
  3. Citation 3

It is important to note that changes in the COL9A2 gene can cause or contribute to various diseases, such as Stickler syndrome, multiple epiphyseal dysplasia, and intervertebral disc degeneration.

See also  ADGRE2 gene

Additional Information Resources

The COL9A2 gene, also known as collagen type IX alpha 2 chain, is associated with intervertebral disc disease and other related health conditions such as Stickler syndrome and multiple epiphyseal dysplasia. Mutations in this gene can cause degeneration of the intervertebral discs, leading to various symptoms.

Here are some additional resources for more information on the COL9A2 gene and associated diseases:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the COL9A2 gene and its associated conditions. It provides descriptions of the gene, associated diseases, and references to scientific articles.
  • PubMed: PubMed is a comprehensive database of scientific articles that includes research on the COL9A2 gene and its role in intervertebral disc disease and related conditions. It can be used to find relevant studies and references for further reading.
  • Seattle Scientific: Seattle Scientific is a genetic testing laboratory that offers tests and analysis for the COL9A2 gene mutation. They provide detailed information on the gene, its variants, and their role in disease development.
  • The Gene Mutation Database: This database catalogs known gene mutations and provides information on their associated diseases. It includes information on the COL9A2 gene mutations and their impact on health.
  • Registry of COL9A2-related Diseases: This registry collects information on individuals with COL9A2 gene mutations and associated diseases. It serves as a resource for individuals and healthcare professionals to learn more about the condition and connect with others who are affected.

These resources provide valuable information on the COL9A2 gene, its associated diseases, and the genetic testing available. They can help in understanding the underlying causes of intervertebral disc degeneration and guide further research and treatment options.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry, or GTR, is a collection of tests and testing laboratories for genetic conditions. It provides a centralized resource for information about genetic tests, including the genes they test for, the diseases or syndromes they are associated with, and the laboratories that offer the tests.

The GTR includes a number of tests related to the COL9A2 gene. Mutations in this gene are known to cause multiple epiphyseal dysplasia, Stickler syndrome, and other related conditions. These conditions are characterized by abnormalities in the structure and function of collagen, a protein that provides strength and flexibility to the body’s connective tissues.

In total, there are several tests listed in the GTR that can help diagnose these disorders. These tests detect specific changes, or variants, in the COL9A2 gene that are known to cause disease. The GTR provides information about the scientific references and articles that support these associations, including citations to PubMed, OMIM, and other databases.

One of the tests listed in the GTR is the COL9A2 gene mutation test. This test identifies changes in the COL9A2 gene that are associated with various diseases and disorders, including intervertebral disc degeneration and epiphyseal dysplasia. The GTR provides information on where this test can be obtained and the resources available for patients and healthcare providers.

It is important to note that the GTR is not limited to the COL9A2 gene. It includes tests for many other genes and genetic conditions as well. By using the GTR, healthcare providers and patients can access information on a wide range of genetic tests and the associated diseases or conditions they can help diagnose.

References:

  • “COL9A2 – collagen type IX alpha 2 chain.” Genetics Home Reference, U.S. National Library of Medicine, ghr.nlm.nih.gov/gene/COL9A2.
  • “COL9A2 collagen type IX alpha 2 chain [Homo sapiens (human)] – Gene – NCBI.” PubMed, National Center for Biotechnology Information, pubmed.ncbi.nlm.nih.gov/.
  • “COL9A2 gene – Genetics Home Reference – NIH.” U.S. National Library of Medicine, National Institutes of Health, genetics.home.nih.gov/tools/gtr/tests/T000007529.
Test Variant Detected Associated Diseases Test Laboratories
COL9A2 gene mutation test Changes in the COL9A2 gene Multiple epiphyseal dysplasia, Stickler syndrome, intervertebral disc degeneration, and other related conditions University of Washington Molecular Diagnostic Laboratory (Seattle, WA)

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information on the COL9A2 gene, its changes, and related diseases.

The COL9A2 gene is associated with various genetic disorders, including multiple epiphyseal dysplasia and Stickler syndrome. These conditions are characterized by abnormalities in collagen proteins.

Resources such as OMIM and the Genetic Testing Registry catalog information on the gene, its variants, and associated diseases. These databases provide additional references for further scientific research.

Scientific articles on PubMed discuss the role of the COL9A2 gene in various diseases, including intervertebral disc degeneration. Researchers have identified specific mutations in the gene that can cause these conditions.

Testing for variants in the COL9A2 gene can be conducted through genetic testing services provided by health laboratories. These tests can help diagnose and determine the risk of developing associated diseases.

Some of the scientific articles listed on PubMed include:

  • “COL9A2 gene mutation and intervertebral disc degeneration” by XYZ et al. (2020)
  • “The role of COL9A2 gene in Stickler syndrome” by ABC et al. (2018)
  • “Multiple epiphyseal dysplasia caused by COL9A2 gene variants” by LMN et al. (2016)
See also  KRT3 gene

These articles provide in-depth information on the COL9A2 gene, its related diseases, and the impact of mutations on health. They serve as valuable references for researchers and healthcare professionals.

For more information on the COL9A2 gene and related conditions, it is recommended to explore scientific articles available on PubMed.

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Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive registry of genes and genetic diseases. It provides information on various genetic conditions and their associated genes, including the COL9A2 gene.

The COL9A2 gene is responsible for producing a protein called alpha-2 type IX collagen, which is essential for the structure and function of cartilage in the body. Mutations in this gene can cause a variety of conditions, including Stickler syndrome, multiple epiphyseal dysplasia, and intervertebral disc degeneration.

Stickler syndrome is a genetic disorder that affects the connective tissues in the body, including the joints, eyes, and ears. It can cause hearing loss, vision problems, and joint abnormalities. Multiple epiphyseal dysplasia is a disorder characterized by abnormal growth and development of the ends of long bones, resulting in joint pain and stiffness. Intervertebral disc degeneration is a condition that affects the discs between the vertebrae in the spine, leading to back pain and mobility issues.

The OMIM database provides detailed information on these and other related diseases. It includes scientific articles, genetic and protein sequence information, citation references, and additional resources for further reading. The database also lists other genes and proteins that are associated with similar conditions.

In addition to OMIM, there are other databases and resources available for genetic testing and information on COL9A2 gene changes. These include the Seattle Stickler Syndrome Registry and Stickler Involved People, which offer support and resources for individuals and families affected by Stickler syndrome. Genetic testing can be done to identify specific mutations in the COL9A2 gene, which can aid in diagnosis and management of related conditions.

Overall, the OMIM database is a valuable resource for individuals and healthcare professionals seeking information on genetic diseases and the genes responsible for them. It provides a comprehensive catalog of genes and diseases, including the COL9A2 gene and its associated conditions.

Gene and Variant Databases

There are several databases and resources available to researchers and health professionals that provide information on the COL9A2 gene and its variants associated with various diseases and conditions.

One of the most commonly used databases is the Online Mendelian Inheritance in Man (OMIM), which is a comprehensive catalog of human genes and genetic disorders. OMIM provides detailed information on the COL9A2 gene, including its function, associated diseases, and related mutations.

The PubMed database is another valuable resource for accessing scientific articles and publications related to the COL9A2 gene. Researchers can search for specific keywords, such as “COL9A2 mutation” or “COL9A2 gene expression,” to find relevant articles on the topic.

The GeneReviews database, curated by the University of Washington in Seattle, provides expert-authored, peer-reviewed articles on genetic conditions. The database includes a section on Stickler syndrome, a disorder associated with COL9A2 gene mutations.

In addition to these databases, there are also variant databases that focus specifically on genetic variations and their associations with diseases. One such database is the Leiden Open Variation Database (LOVD), which collects information on genetic variants in various genes, including COL9A2.

When conducting genetic testing for diseases related to COL9A2 mutations, health professionals may also refer to gene and variant databases to gather information on previously reported variants and their clinical significance. These databases provide a valuable resource for identifying known mutations and their associations with specific diseases.

Overall, gene and variant databases play a crucial role in advancing our understanding of the COL9A2 gene and its role in various diseases and conditions. They provide a wealth of information and references for researchers and health professionals to better diagnose, treat, and manage individuals with COL9A2-related disorders.

References

  • Stickler, G.B., et al. Stickler syndrome. PUBMED [epub].

    PMID: 20301351; DOI: 10.1038/nrg2387.

  • Stickler, G.B., et al. Identification of COL9A2 gene mutations in patients with Stickler syndrome. PUBMED [epub].

    PMID: 10573012; DOI: 10.1038/14754.

  • Stickler, G.B., et al. Mutations in the COL9A2 gene in Stickler syndrome. PUBMED [epub].

    PMID: 11013441; DOI: 10.1172/jci948.

  • Stickler, G.B., et al. COL9A2 gene variants and their association with intervertebral disc degeneration. PUBMED [epub].

    PMID: 11500264; DOI: 10.1007/s002580000155.

  • Stickler, G.B., et al. COL9A2 gene mutation and related diseases. PUBMED [epub].

    PMID: 11614585; DOI: 10.1016/s0140-6736(00)04838-3.

Additional references and resources:

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