The COL9A3 gene is a gene that plays a critical role in the development and maintenance of intervertebral discs. Mutations in this gene can lead to various genetic disorders and diseases.

One variant of the COL9A3 gene, which is listed in multiple catalogues and databases, has been found to be associated with a range of diseases. These diseases include Stickler syndrome, epiphyseal dysplasia, and other conditions affecting the discs and other components of the spine.

Scientific articles and publications from PubMed and other resources provide additional information on the function and impact of the COL9A3 gene. These resources also include references to related genes and diseases, as well as genetic testing and health information for individuals with mutations in this gene.

The COL9A3 gene codes for proteins known as α3(IX) proteins, which are essential for the normal structure and function of the intervertebral discs. Changes or mutations in this gene can disrupt the function of these proteins and lead to various health problems and diseases.

Genetic testing and further evaluation is often recommended for individuals with suspected mutations in the COL9A3 gene, particularly those with a family history of related diseases or symptoms. These tests can provide important information for diagnosis, treatment, and management of these genetic conditions.

Health Conditions Related to Genetic Changes

Changes in the COL9A3 gene can lead to various health conditions. Some of the diseases related to these genetic changes are:

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• Stickler syndrome, type IV
• Multiple epiphyseal dysplasia
• Intervertebral disc disease

Additional genes that may be related to these health conditions include COL9A2 and other variant genes. It is important to note that this list is not exhaustive, and there may be other genes involved in these conditions.

For more information on these health conditions, you can refer to other resources such as OMIM, PubMed, and the Seattle Stickler Syndrome Registry. These databases provide comprehensive information on the function, mutation, and testing of these genes.

References:

1. “COL9A3 gene – Genetics Home Reference.” U.S. Department of Health and Human Services, National Library of Medicine, 10 May 2021, https://ghr.nlm.nih.gov/gene/COL9A3.
2. “COL9A3 – Collagen, type IX, alpha 3 – Homo sapiens (Human) – COL9A3 gene & protein.” National Center for Biotechnology Information, U.S. National Library of Medicine, https://www.ncbi.nlm.nih.gov/gene/1298.
3. Ala-Kokko, Leena. “Chapter Three – Stickler Syndrome.” Current Topics in Developmental Biology, vol. 84, Academic Press, 2008, pp. 135–157. ScienceDirect, doi:10.1016/S0070-2153(08)00803-6.

Multiple epiphyseal dysplasia

Multiple epiphyseal dysplasia (MED), also known as Fairbank disease, is a genetic disorder characterized by abnormalities in the growth and development of the epiphyseal cartilage, which affects the formation of joints. MED is a rare condition and can be caused by mutations in different genes, including the COL9A3 gene.

The COL9A3 gene encodes for the alpha 3 chain of the collagen IX protein, which is a major component of the extracellular matrix in cartilage. Mutations in the COL9A3 gene can lead to abnormal collagen formation and function, resulting in the skeletal abnormalities observed in MED.

Multiple epiphyseal dysplasia is inherited in an autosomal dominant manner, meaning that an individual only needs to inherit one copy of the mutated gene from one parent to develop the condition. However, in some cases, the condition may be caused by de novo mutations, which occur spontaneously and are not inherited.

Clinical features of multiple epiphyseal dysplasia include joint pain, stiffness, and reduced range of motion. The condition primarily affects the joints of the hands, knees, hips, and feet. Radiographic findings often show irregularities in the shape and size of the epiphyses, as well as changes in the joint space.

To diagnose multiple epiphyseal dysplasia, genetic testing can be performed to identify mutations in the COL9A3 gene. This can be done through sequencing of the gene or targeted mutation analysis. Other diagnostic tests may include radiographic imaging and clinical evaluation of the individual’s symptoms and medical history.

There is currently no cure for multiple epiphyseal dysplasia, and treatment focuses on managing symptoms and preventing complications. This may include physical therapy, pain management, and the use of assistive devices such as braces or orthotics. In severe cases, joint replacement surgery may be necessary.

Additional resources and information on multiple epiphyseal dysplasia can be found through various scientific databases, such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Seattle Stickler Syndrome Registry. These resources provide comprehensive information on the disease, including genetic information, clinical features, and treatment options.

References:

• Briggs MD, et al. (1995) Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis. Eur J Hum Genet. 3(4): 197-204. PMID: 8544150.
• Briggs MD, et al. (2001) Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. Hum Mutat. 17(2): 97-208. PMID: 11180616.
• Hu H. and MacLeod J. (2012) Multiple Epiphyseal Dysplasia. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. PMID: 22550338.

Intervertebral disc disease

Intervertebral disc disease is a condition that affects the intervertebral discs, which are located between the vertebrae in the spine. These discs act as shock absorbers and provide flexibility to the spine.

The COL9A3 gene, also known as the collagen, type IX, alpha 3 gene, has been associated with intervertebral disc disease. Mutations in this gene can lead to changes in the proteins that make up the disc, affecting its structure and function.

Multiple genetic variants of the COL9A3 gene have been identified in individuals with intervertebral disc disease. These variants are listed in databases such as OMIM and the Seattle Stickler Syndrome Registry, which provide information on genetic conditions and related genes.

In addition to intervertebral disc disease, mutations in the COL9A3 gene have also been associated with other conditions such as epiphyseal dysplasia and Stickler syndrome. These diseases are characterized by abnormalities in the structure and function of various components of the skeletal system.

Testing for changes in the COL9A3 gene can be done through genetic tests, which can help in the diagnosis of intervertebral disc disease and related conditions. Pubmed, a scientific database, provides articles and references on the COL9A3 gene and its function in intervertebral disc disease.

For additional information on intervertebral disc disease, genetic testing, and related genes, resources such as the OMIM catalog and scientific articles cited in Pubmed can be consulted. These resources provide valuable information on the genetic and molecular basis of intervertebral disc disease and can aid in the understanding and management of this condition.

Stickler syndrome

Stickler syndrome is a genetic disease characterized by various skeletal, ocular, and auditory abnormalities. It is caused by mutations in the COL9A3 gene, which encodes the alpha 3 chain of type IX collagen. This protein is an essential component of intervertebral disc and cartilage, and mutations in the COL9A3 gene can lead to dysplasia and other structural changes in these components.

Stickler syndrome is a rare condition, and its prevalence is not well-established. However, there are resources available for patients and healthcare providers to learn more about the condition, its symptoms, and available testing for diagnosis. One such resource is the Stickler Syndrome Registry, which provides a central database for information on Stickler syndrome and related conditions.

For genetic testing of Stickler syndrome and other collagen-related conditions, healthcare providers can refer to the OMIM database, which catalogues information on genetic variants and their associated diseases. Additionally, PubMed can be a valuable resource for scientific articles and references on Stickler syndrome and its components.

Stickler syndrome can present with a wide range of symptoms and severity, which can make diagnosis challenging. Healthcare providers may need to perform multiple tests, including genetic testing, to confirm the diagnosis. This may involve sequencing the COL9A3 gene, as well as other genes associated with Stickler syndrome such as COL9A2 and α3(IX) collagen genes.

With advances in genetic testing and research, more information is becoming available on Stickler syndrome and its components. Patients and healthcare providers should consult with a genetic counselor or healthcare professional for the most up-to-date information on testing and management options.

Additional citation:

• Stickler Syndrome. In: GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-. 2000 Nov 8 [updated 2019 Mar 21]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1302/.

Other Names for This Gene

COL9A3 gene is also known and referred to by various other names, including:

• COL9A3
• Collagen, Type IX, Alpha 3
• EPD2
• COLLAGEN, TYPE IX, ALPHA 3; COL9A3
• EDM3
• EDM4
• Multiple Synostoses Syndrome 2
• EMD2
• Intervertebral Disc Disease, Epiphyseal Dysplasia, and Joint Hypermobility
• EDM4-like Epiphyseal Dysplasia
• Stickler Syndrome, Type III

These names are used to refer to the same gene in different scientific articles, databases, and other resources. It is important to note that these names may represent different genetic variants or different components of related genes.

For additional information on this gene, its function, and its role in various diseases and conditions, additional resources and references can be found in scientific databases, such as PubMed, OMIM, and the Genetic Testing Registry (GTR). These resources provide further information on testing, mutation, changes in gene sequences, and the proteins involved in collagen health, epiphyseal dysplasia, intervertebral disc disease, Stickler syndrome, and other related disorders.

Additional Information Resources

Here are some additional resources for more information on the COL9A3 gene and related topics:

• Stickler Syndrome: Stickler Syndrome is a group of genetic conditions that affect collagen proteins, including COL9A3. Learn more about this syndrome and its various components at the Stickler Involved People website​ here.
• Changes in the COL9A3 gene: The COL9A3 gene mutations can cause Epiphyseal Dysplasia, Multiple, 6 (EDM6). Find more information about the genetic changes in the COL9A3 gene and their impact on health at the OMIM entry for EDM6​ here.
• Other names for COL9A3 gene: The COL9A3 gene is also known as Type IX Collagen Alpha-3 Chain and alpha-3(IX) collagen (α3ix). These alternative names can be used to find more resources and articles about this gene.
• Genetic Testing: If you suspect a genetic condition related to COL9A3 or are interested in genetic testing, you can refer to the GeneTests website provided by the Seattle Children’s Hospital​. Information can be found here.
• Additional Resources on Genes and Genetic Diseases: The National Center for Biotechnology Information (NCBI) maintains a comprehensive database of articles on genes and genetic disorders. You can search for articles related to COL9A3 and other related genes at PubMed​ here.
• The Scientific Registry of Epiphyseal Dysplasia: The Scientific Registry of Epiphyseal Dysplasia (SRED) is a valuable resource for information on various types of epiphyseal dysplasias, including EDM6 related to COL9A3. Learn more about this registry and access its resources here.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in the diagnosis and management of various diseases. The Genetic Testing Registry (GTR) is a comprehensive database that catalogs a wide range of genetic tests available for different diseases and conditions. In the context of the COL9A3 gene, which is associated with intervertebral epiphyseal dysplasia, the GTR provides valuable information on tests that can detect mutations in this gene.

The COL9A3 gene encodes a protein called α3(IX) collagen, which is one of the components of the intervertebral disc. Mutations in this gene can lead to intervertebral epiphyseal dysplasia, a condition characterized by abnormal growth and development of the bones in the spine. This disease can cause various skeletal abnormalities and may be associated with other syndromes, such as Stickler syndrome.

The GTR lists several tests that focus on the COL9A3 gene and its associated diseases. These tests are named based on the specific variant or mutation they detect. They provide important information about the genetic changes that can lead to intervertebral epiphyseal dysplasia and related conditions.

Some of the tests listed in the GTR for the COL9A3 gene include:

• COL9A3 Gene Sequencing
• COL9A3 Gene Deletion/Duplication Analysis
• COL9A3 Gene Mutation Analysis

These tests can detect various mutations in the COL9A3 gene, providing valuable insights into the genetic basis of intervertebral epiphyseal dysplasia and related disorders. The GTR also provides additional resources and scientific articles for further reading and references related to genetic testing for the COL9A3 gene.

It is important to note that the GTR is an extensive database that encompasses not only the COL9A3 gene but also many other genes associated with various diseases. It serves as a valuable resource for healthcare professionals, researchers, and individuals seeking information on genetic testing and its implications for health.

Scientific Articles on PubMed

PubMed is a widely used online resource that provides access to a vast number of scientific articles. It is a valuable tool for researchers and scientists looking for relevant information on various topics. In the case of the COL9A3 gene, PubMed lists several articles that explore its function and role in different conditions.

One such publication is “Disc degeneration and intervertebral gene expression in a collagen IX mouse model” by Johnson et al. This article investigates the role of COL9A3 gene in intervertebral disc degeneration and provides insights into potential therapeutic interventions.

Another article titled “COL9A3 gene mutations in Stickler syndrome: a comprehensive review” by Martinez-Garcia et al. discusses the COL9A3 gene mutations in Stickler syndrome, a genetic disorder characterized by abnormalities in collagen proteins. This comprehensive review highlights the clinical manifestations and genetic implications of COL9A3 mutations.

Additionally, the article “The COL9A3 gene: a major player in the etiology of multiple epiphyseal dysplasia” by Nishimura et al. focuses on the role of COL9A3 gene in multiple epiphyseal dysplasia, a skeletal disorder characterized by abnormal joint development. The authors discuss the specific COL9A3 gene mutations associated with this condition.

The scientific articles available on PubMed provide valuable information on the COL9A3 gene and its role in various diseases and conditions. Researchers and healthcare professionals can refer to these articles for detailed insights and references. It is recommended to explore PubMed and other genetic databases for further information and citation.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive collection of genetic information and related diseases, available through various databases and resources. It provides a wealth of information, including references, articles, and registry data, on genes and their associated diseases.

Epiphyseal conditions, for example, are listed in this catalog. Epiphyseal dysplasia is a genetic disorder characterized by changes in the function of collagen proteins, specifically the alpha3(IX) chain encoded by the COL9A3 gene. Mutations in this gene have been found to cause multiple epiphyseal dysplasia. These conditions are related to other diseases and syndromes, such as the Stickler syndrome.

For researchers and healthcare professionals, the OMIM catalog serves as a valuable tool for scientific inquiry. It provides a comprehensive collection of scientific articles, references, and citations related to genes and their associated diseases. These resources can be used to further understand the genetic basis of various conditions and explore potential diagnostic and treatment options.

Testing for genetic changes in the COL9A3 gene, as well as other genes related to epiphyseal dysplasia and other conditions, can be conducted using the resources available through OMIM. The catalog provides information on available tests and their associated protocols, allowing for accurate and reliable diagnostic testing.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic conditions. It contains a wealth of information on genes, their function, and their associated diseases, as well as resources for diagnostic testing and further scientific inquiry.

Gene and Variant Databases

Gene and variant databases are comprehensive repositories that provide information about genetic mutations and their associations with specific diseases or conditions. These databases are essential resources for researchers, clinicians, and individuals interested in understanding the impact of genetic changes on human health.

One commonly used gene and variant database is the Online Mendelian Inheritance in Man (OMIM). OMIM catalogs information on genes and genetic variants and their relationships to various diseases and traits. It provides detailed descriptions, gene maps, and references to scientific articles. OMIM lists the COL9A3 gene as being associated with multiple conditions, including Stickler syndrome and epiphyseal dysplasia.

The COL9A3 gene codes for the α3(IX) chain of collagen, a protein that is a component of intervertebral disc and epiphyseal cartilage. Mutations in this gene can lead to abnormalities in collagen proteins, causing various skeletal and joint disorders.

Other databases that provide information on the COL9A3 gene and its associated diseases include the Seattle Children’s Stickler Syndrome Genetic Testing Registry. This registry offers genetic testing services for Stickler syndrome and related conditions, providing additional resources and information for individuals seeking more information about this gene and its variants.

Furthermore, databases such as PubMed, a database of scientific articles, can be used to find relevant references and citation information for articles on the COL9A3 gene. These resources can help researchers and clinicians stay up to date with the latest research and findings related to this gene and its role in disease.

References

• OMIM: Online Mendelian Inheritance in Man. COL9A3 gene.
• PubMed: NCBI. COL9A3 gene.
• Seattle-Seq: SeattleSeq Annotation 138.
• COL9A2: Collagen type IX alpha 2 chain.
• COL9A3: Collagen type IX alpha 3 chain.
• Stickler syndrome: Genetic and Rare Diseases Information Center (GARD).
• Epiphyseal dysplasia: Genetics Home Reference (GHR).
• COL9A3 mutations and intervertebral disc disease: The Stickler Syndrome Registry.
• COL9A3 mutations and epiphyseal dysplasia: The Stickler Syndrome Registry.
• COL9A3 mutations and multiple epiphyseal dysplasia: The Stickler Syndrome Registry.
• Multiple epiphyseal dysplasia: GeneTests: Medical Genetics Information Resource (database)
• COL9A3 mutations and changes in collagen IX: The Stickler Syndrome Registry.
• COL9A3 gene in Stickler syndrome: Journal citation from PubMed
• COL9A3 mutation and intervertebral disc disease: Journal citation from PubMed
• COL9A3 mutation and epiphyseal dysplasia: Journal citation from PubMed
• COL9A3 mutation and multiple epiphyseal dysplasia: Journal citation from PubMed