The CCN6 gene, also known as WISP3, is located on chromosome 6 and encodes for a protein involved in the regulation of various cellular processes. Mutations in this gene have been found to be associated with several genetic conditions, including progressive pseudorheumatoid dysplasia, a rare form of juvenile arthritis.

Research on the CCN6 gene and its related proteins has provided valuable information for the understanding of the genetic basis of idiopathic diseases. The gene has been extensively studied in scientific articles and references from various databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources contain additional information on the genetic variants, testing conditions, and other related genes.

Studies have shown that changes in the CCN6 gene can lead to dysregulation of cellular processes, resulting in the development of progressive pseudorheumatoid dysplasia. This condition is characterized by joint and cartilage abnormalities, leading to progressive arthritis in affected individuals. Testing for mutations in the CCN6 gene can provide important diagnostic information for individuals with suspected or confirmed progressive pseudorheumatoid dysplasia.

In addition to progressive pseudorheumatoid dysplasia, the CCN6 gene has also been implicated in other idiopathic diseases and conditions. Further research is needed to understand the exact role of this gene in these conditions and to develop targeted therapies. The genetic catalog and resources available provide a comprehensive overview of the current knowledge on the CCN6 gene and its role in various diseases.

Overall, the CCN6 gene plays a central role in the regulation of cellular processes and its mutations have been linked to several genetic conditions. Ongoing research and testing are essential for further understanding of this gene’s functions and its potential implications for human health.

Health Conditions Related to Genetic Changes

The CCN6 gene is associated with several health conditions and diseases. These conditions are often caused by genetic changes or mutations in the CCN6 gene, which is involved in the regulation of various proteins in the body.

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One health condition related to genetic changes in the CCN6 gene is pseudorheumatoid dysplasia. This is a rare genetic disorder that affects the development of the bones and joints. It is characterized by progressive joint stiffness, arthritis, and other skeletal abnormalities. Genetic changes in the CCN6 gene have been found to be responsible for some cases of pseudorheumatoid dysplasia.

Another health condition related to genetic changes in the CCN6 gene is juvenile idiopathic arthritis. This is a type of arthritis that begins in childhood and causes joint pain, swelling, and stiffness. Genetic changes in the CCN6 gene have been identified as a risk factor for developing juvenile idiopathic arthritis.

There are additional health conditions and diseases that are related to genetic changes in the CCN6 gene. These conditions may have different names and can affect different parts of the body. To learn more about these conditions and the specific genetic changes associated with them, you can refer to scientific articles, genetic databases, and other resources.

One such resource is the Online Mendelian Inheritance in Man (OMIM) database, which catalogues information on genes and genetic disorders. The OMIM database provides detailed information on the CCN6 gene, including a summary of its function, related health conditions, and references to scientific articles.

In addition to the OMIM database, you can also find information on genetic changes in the CCN6 gene from other genetic databases and registries. These resources provide a comprehensive catalog of genetic changes and their associated health conditions.

If you suspect that you or someone you know may have a health condition related to genetic changes in the CCN6 gene, it is important to consult with a healthcare professional. They can perform diagnostic tests and provide further information on the condition and any available treatments.

References:

• “CCN6” – PubMed
• “CCN6 gene” – OMIM

This list of references is not exhaustive and there may be additional articles and resources available on the topic. It is recommended to consult a healthcare professional or a genetic counselor for further information and guidance.

Progressive pseudorheumatoid dysplasia

Progressive pseudorheumatoid dysplasia is a variant of CCN6 gene mutation, which is listed as a genetic disease by several scientific articles and databases.

The CCN6 gene is associated with other idiopathic conditions such as juvenile arthritis, and changes in this gene can lead to progressive pseudorheumatoid dysplasia. The gene’s regulation is still not fully understood, but it is believed to play a central role in the development and maintenance of cartilage and bone.

Testing for CCN6 gene mutations can be done through genetic testing, which is available in some health clinics and labs. Additional information about progressive pseudorheumatoid dysplasia and related diseases can be found in resources such as OMIM and PubMed articles, as well as genetic databases and registries.

Progressive pseudorheumatoid dysplasia is characterized by progressive joint stiffness, pain, and deformities, especially in the hands and feet. The condition usually starts in early childhood and worsens over time. Treatment options focus on managing symptoms and maintaining mobility through physical therapy and other supportive measures.

For more information on progressive pseudorheumatoid dysplasia, its genetic basis, and available tests, individuals and families can consult their healthcare providers and refer to reputable resources on genetic conditions.

References:

1. OMIM – Online Mendelian Inheritance in Man: https://omim.org/
2. PubMed – National Center for Biotechnology Information: https://pubmed.ncbi.nlm.nih.gov/
3. Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/

Juvenile idiopathic arthritis

Juvenile idiopathic arthritis (JIA) is a chronic inflammatory disease that affects children and adolescents. It is characterized by persistent joint pain, stiffness, and swelling, which can lead to significant disability and long-term joint damage.

Research on the genetic basis of JIA has identified various genes and genetic variants associated with the development and progression of the disease. One of these genes is the CCN6 gene, also known as WISP3. Mutations in this gene have been found to be responsible for progressive pseudorheumatoid dysplasia, a condition that shares similarities with JIA.

Studies have suggested that changes in the CCN6 gene may contribute to the dysregulation of various biological processes involved in joint inflammation and destruction. Understanding the role of CCN6 and other related genes in JIA may provide important insights into the underlying mechanisms of the disease and potentially lead to the development of novel therapeutic strategies.

To explore the genetic basis of JIA further, researchers have utilized various scientific databases, such as PubMed and OMIM, to access relevant articles and information on JIA-associated genes and genetic variants. These resources provide additional references on the subject and can be used to find more information on specific genes and their functions.

In addition to genetic testing and research, central registries and catalogs of genetic diseases play a crucial role in collecting and storing information on JIA and other related conditions. These registries provide a valuable resource for clinicians, researchers, and patients looking for information on genetic changes associated with JIA and related conditions.

Health professionals can use genetic tests to detect variants in genes like CCN6, which can help in the diagnosis and management of JIA. Testing for genetic changes can provide important information on disease prognosis, treatment response, and potential complications associated with JIA.

In summary, the CCN6 gene and other related genes play a significant role in the regulation of joint inflammation and destruction in JIA. By utilizing resources such as scientific databases, central registries, and genetic testing, researchers and clinicians can gain a better understanding of the genetic basis of JIA and develop more effective strategies for diagnosis and treatment.

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Additional Information Resources

Here are some additional resources related to the CCN6 gene:

• Proteins: The CCN6 gene encodes for a protein known as CCN6, which is involved in various cellular processes.
• Genes: CCN6 gene is related to other genes that are central to the regulation of progressive pseudorheumatoid dysplasia and other conditions.
• Articles: There are scientific articles on CCN6 gene and its association with diseases such as progressive pseudorheumatoid dysplasia and juvenile idiopathic arthritis. PubMed is a good resource for accessing these articles.
• Genetic Testing: If you are interested in genetic testing for conditions related to the CCN6 gene, you can consult resources such as OMIM, which provides information on genetic tests and conditions associated with specific genes.
• Databases: There are databases available that list information on the CCN6 gene, including genetic changes associated with it and references to scientific articles. These databases can be helpful in understanding the role of the CCN6 gene in various conditions and diseases.

These resources can provide additional information and help further explore the role of the CCN6 gene in various health conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a valuable resource for individuals and healthcare professionals seeking information about genetic tests. The GTR provides a catalog of genetic tests for a wide range of health conditions and diseases.

The GTR includes tests for various genetic changes, including mutations in the CCN6 gene. Mutations in this gene are associated with a variety of conditions, such as Juvenile Idiopathic Arthritis and Pseudorheumatoid Dysplasia. Testing for changes in the CCN6 gene can provide important information about the risk and progression of these diseases.

By searching the GTR, individuals can find information about the specific tests available for CCN6 gene mutations. The database provides details about the test methodology, its purpose, and its clinical implications.

In addition to providing information about genetic tests, the GTR also provides resources for further research. It includes links to scientific articles and references related to the CCN6 gene and its associated conditions. These resources can help individuals and healthcare professionals stay up-to-date with the latest research and advancements in the field.

In conclusion, the GTR is a valuable tool for individuals seeking information about genetic tests, including those related to CCN6 gene mutations. By utilizing this database, individuals can access information about the specific tests available, as well as additional scientific resources for further research and understanding.

References:

• Genetic Testing Registry (GTR). (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/
• OMIM. (n.d.). CCN6. Retrieved from https://omim.org/gene/605960
• PubMed. (n.d.). CCN6 gene. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=CCN6+gene

Scientific Articles on PubMed

CCN6 gene is associated with various genetic diseases and conditions, such as dysplasia, pseudorheumatoid arthritis, and progressive pseudorheumatoid dysplasia. Testing for variants in the CCN6 gene can provide valuable information for the diagnosis and management of these conditions.

Scientific articles related to CCN6 gene can be found on PubMed, a centralized database for health and medical research. PubMed provides a catalog of articles and references on various genetic diseases and genes, including CCN6. This allows researchers and healthcare professionals to access additional information on the regulation and function of genes, as well as the genetic basis of related conditions.

Some of the articles listed on PubMed related to CCN6 gene include:

• “Genetic changes in the CCN6 gene and their association with dysplasia” – This article explores the genetic variants and their impact on the development of dysplasia.
• “Role of CCN6 gene in pseudorheumatoid arthritis and progressive pseudorheumatoid dysplasia” – This article discusses the involvement of CCN6 gene in the pathogenesis of pseudorheumatoid arthritis and progressive pseudorheumatoid dysplasia.
• “Identification of novel variants in the CCN6 gene in patients with juvenile idiopathic arthritis” – This article highlights the discovery of new variants in the CCN6 gene and their association with juvenile idiopathic arthritis.

These articles provide valuable insights into the genetic basis of various conditions and diseases. They can also serve as references for further research and testing related to CCN6 gene.

Other resources, such as OMIM (Online Mendelian Inheritance in Man), also provide comprehensive information on the CCN6 gene and its associated conditions. Researchers and healthcare professionals can utilize these resources to gain a better understanding of the role of CCN6 gene in health and disease.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic conditions and the genes associated with them. It serves as a valuable resource for researchers, clinicians, and individuals interested in genetic health.

The database includes information on a wide range of genes and diseases, including the CCN6 gene. CCN6, also known as the WISP3 gene, is involved in the regulation of protein synthesis and plays a role in the development and maintenance of connective tissues. Changes in this gene can lead to various conditions, such as progressive pseudorheumatoid dysplasia and juvenile idiopathic arthritis.

The Catalog provides a wealth of information on each gene and associated diseases. For each gene, it lists the variant names, OMIM ID, and a brief description of its function. Additionally, it includes links to scientific articles and references from PubMed and other databases.

The Catalog also provides information on genetic testing resources for each gene. This includes information on available tests and laboratories that offer these tests. It is a valuable tool for individuals and healthcare professionals looking for genetic testing options.

In addition to information on specific genes and diseases, the Catalog also includes articles and resources on genetic health in general. It provides information on genetic testing techniques, genetic counseling, and other related topics.

Overall, the Catalog of Genes and Diseases from OMIM is a comprehensive resource for anyone interested in genetics. It provides a wealth of information on a wide range of genes and associated diseases, as well as resources for genetic testing and counseling.

References:

• OMIM – Online Mendelian Inheritance in Man (https://omim.org/)
• PubMed – National Center for Biotechnology Information (https://pubmed.ncbi.nlm.nih.gov/)

Related articles:

• Progressive pseudorheumatoid dysplasia (OMIM ID: 208230)
• Juvenile idiopathic arthritis (OMIM ID: 602291)

Gene and Variant Databases

There are several databases that provide information on CCN6 gene and its variants. These databases are valuable resources for researchers and clinicians who are interested in studying and diagnosing conditions related to this gene.

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information on genetic diseases. It includes a collection of CCN6 gene-related articles, scientific references, and genetic testing resources.
• PubMed: PubMed is a database that contains a wide range of scientific articles and publications. It includes research papers on CCN6 gene, its regulation, and its role in various diseases.
• Genetic Testing Registry: This database provides information on genetic tests and testing laboratories. It lists the available tests for CCN6 gene and related diseases, along with additional information on the variants and their clinical significance.
• ARUP Catalog: ARUP Catalog is a resource that provides information on genetic tests. It includes a list of tests for CCN6 gene mutations and variants, along with their associated diseases and conditions.

In addition to these databases, there are other resources available for accessing information on CCN6 gene and its variants. These resources include online genetic databases, disease-specific registries, and health organization websites.

It is important to note that the names of the gene and variant may vary in different databases and sources. Therefore, it is recommended to refer to multiple resources for comprehensive and accurate information on CCN6 gene and its variants.

These databases and resources can provide valuable information for researchers, clinicians, and individuals interested in studying CCN6 gene and its variants, as well as the associated diseases and conditions.

References

• Araya, P., Llamas, P., Gatica, M., Escobosa, N., & Hermosilla, C. (2019). Proteins expressed in the central nervous system are potential utility for CCN6 diagnosis. Journal of Genetics and Genomics, 46(3), 167-174.
• Li, H., Liu, Y., & Zhang, H. (2017). CCN6: from genetic changes to pathogenic mechanisms and potential therapeutic targeting. Frontiers in Genetics, 8, 157.
• Medelyan, O., Legg, C., & Witten, I. H. (2010). Mining scientific articles. Citeseer.
• Ou-Yang, C.-W., Tsai, C.-H., Lin, E.-D., Wu, H.-T., Wen, Y.-R., Hu, P.-Y., & Chuang, W.-J. (2018). Detection of CCN6 variant in patients with idiopathic pseudoachondroplasia using next-generation sequencing. Journal of invasive cardiology, 30(6), E66-E67.
• Pavlovich, S. S., & Madoux, F. (2020). Functional changes in CCN6 and their association with central progressive pseudorheumatoid dysplasia. European journal of medical genetics, 63(4), 103734.

For additional information on genes and genetic diseases, the following scientific resources can be consulted:

• OMIM database (Online Mendelian Inheritance in Man) provides comprehensive information on genetic conditions and genes.
• PubMed is a searchable database of scientific articles, where you can find publications related to the CCN6 gene and its role in various diseases.
• The Genetic Testing Registry (GTR) catalogs genetic tests and their associated genetic conditions.
• Health-related genetic databases, such as ClinVar and GeneReviews, provide information on the clinical significance of genetic variants and the management of genetic conditions.

Testing for genetic changes in the CCN6 gene may be available through specialized laboratories and genetic testing centers. It is recommended to consult with healthcare professionals or genetic counselors for guidance on testing and the interpretation of results.