The COMP gene, also known as cartilage oligomeric matrix protein, plays a significant role in various genetic diseases related to skeletal dysplasia. This gene is listed in scientific databases such as PubMed and OMIM, providing valuable information about its genetic changes, mutations, and related conditions.

Cartilage oligomeric matrix protein (COMP) is an extracellular matrix protein that is primarily expressed in chondrocytes, the cells responsible for cartilage formation and maintenance. Mutations in the COMP gene can result in various forms of skeletal dysplasia, including pseudoachondroplasia and epiphyseal dysplasia, as well as other related conditions.

The COMP gene has been extensively studied, and numerous articles and references can be found in databases such as PubMed. These resources provide additional information about the role of COMP in skeletal development and the clinical implications of COMP gene mutations.

Genetic testing for COMP gene mutations can be conducted using various methods. This testing can help diagnose and classify different types of skeletal dysplasia and related conditions. The results of these tests can provide valuable information for the management and treatment of patients with these disorders.

In conclusion, the COMP gene is an essential gene involved in the development and maintenance of cartilage. Mutations in this gene can cause multiple types of skeletal dysplasia and related conditions. Scientific databases, such as PubMed and OMIM, provide valuable information and resources for studying and understanding the COMP gene and its role in genetic diseases.

Genetic changes can lead to various health conditions, including dysplasia and other diseases. These genetic changes can result from mutations in multiple genes, affecting the production and function of proteins in the body. This article provides an overview of some health conditions related to genetic changes.

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Pseudoachondroplasia

Pseudoachondroplasia is a skeletal dysplasia caused by mutations in the COMP gene. COMP gene encodes a protein called cartilage oligomeric matrix protein (COMP), which plays a role in the development and maintenance of cartilage. Mutations in the COMP gene lead to abnormal COMP protein, causing skeletal abnormalities.

Epiphyseal Dysplasia

Epiphyseal dysplasia is a group of genetic disorders characterized by abnormalities in the growth plates of bones. Mutations in various genes have been identified as the cause of different types of epiphyseal dysplasia. These genetic changes affect the development and function of chondrocyte cells in the growth plates.

Genetic Testing and Resources

Genetic testing can be used to identify the genetic changes associated with these health conditions. Various databases and resources are available for researchers and clinicians to access information on genetic changes and related diseases.

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information on the genetic changes, clinical features, and references to scientific articles related to each disease.
  • PubMed: PubMed is a database of scientific articles. It can be used to search for research articles on specific gene mutations and their association with diseases.
  • The COMP Mutation Registry: The COMP Mutation Registry catalogs the genetic changes in the COMP gene that have been reported in scientific literature. It provides additional information on the variants and their impact on health.

In conclusion, genetic changes can lead to various health conditions such as dysplasia and other diseases. Mutations in specific genes can result in the production of abnormal proteins, affecting the normal functioning of cells and tissues in the body. Genetic testing and resources like OMIM, PubMed, and the COMP Mutation Registry are valuable tools for understanding the genetic basis of these conditions.

Multiple epiphyseal dysplasia

Multiple epiphyseal dysplasia (MED) is a genetic disorder that affects the development of the endoplasmic reticulum in chondrocyte cells. It is caused by mutations in the COMP gene, also known as cartilage oligomeric matrix protein gene.

The COMP gene provides instructions for making a protein called cartilage oligomeric matrix protein (COMP). This protein plays a role in regulating the growth and development of cartilage in the body. Mutations in the COMP gene can result in changes to the structure or function of the COMP protein, leading to the signs and symptoms associated with MED.

The symptoms of MED can vary widely from person to person. Common symptoms include joint pain and stiffness, limited joint movement, short stature, and abnormal alignment of the limbs. In some cases, MED can also be associated with other conditions such as pseudoachondroplasia, a similar genetic disorder that affects cartilage and bone development.

See also  LMNA gene

To diagnose MED, genetic testing can be performed to identify mutations in the COMP gene. The results of these tests can confirm the diagnosis of MED and help differentiate it from other similar conditions. Additional clinical information can also be found in scientific articles, databases, and registries such as OMIM, PubMed, and CZARNY-RATAJCZAK Health Catalog.

Treatment for MED typically focuses on managing the symptoms and improving quality of life. This may include physical therapy, pain management, and, in some cases, surgery to correct abnormal joint alignment or other skeletal abnormalities.

In summary, multiple epiphyseal dysplasia is a genetic disorder characterized by mutations in the COMP gene, which affects the development of cartilage in the body. This can result in a wide range of symptoms, and diagnosis is typically confirmed through genetic testing. Treatment options aim to manage symptoms and improve quality of life.

Pseudoachondroplasia

Pseudoachondroplasia is a genetic variant that causes skeletal dysplasia, resulting in significant changes in the bones and overall physical growth. This rare condition is caused by mutations in the COMP gene, which codes for the production of cartilage oligomeric matrix protein (COMP).

The COMP gene provides instructions for creating proteins that are vital for the normal development of bones and cartilage. These proteins play a crucial role in maintaining the integrity and function of the skeletal system.

In individuals with pseudoachondroplasia, mutations in the COMP gene lead to the production of abnormal COMP proteins. These proteins disrupt the normal functioning of chondrocyte cells, which are responsible for the growth and development of cartilage in the body.

Clinical tests and genetic studies have identified multiple mutations in the COMP gene that are associated with pseudoachondroplasia. These mutations affect the production and structure of COMP proteins, leading to the characteristic symptoms and features of the condition.

Individuals with pseudoachondroplasia often experience significant growth deficiencies, particularly in the long bones of the limbs. The bones may be shorter and abnormally shaped, causing a distinct short-stature appearance. Additionally, individuals may develop joint pain, stiffness, and other mobility issues.

More scientific research and clinical studies are ongoing to further understand the molecular mechanisms behind pseudoachondroplasia and to develop potential therapeutic interventions or treatments. The COMP gene and related proteins are actively being studied to explore their roles in normal skeletal development and other bone-related diseases.

References and additional information on pseudoachondroplasia can be found in reputable scientific databases such as OMIM, PubMed, and the GeneReviews. These resources provide comprehensive catalogs of articles, genetics studies, and clinical information related to this condition and other related diseases.

In conclusion, pseudoachondroplasia is a rare genetic variant that affects the normal development of bones and cartilage. It is caused by mutations in the COMP gene, which lead to the production of abnormal COMP proteins. Further research and genetic testing are essential for understanding the underlying causes and potential treatments for this condition.

Other Names for This Gene

The COMP gene is also known by other names:

  • Thrombospondin-5 (THBS5)
  • Matrilin-3 (MATN3)
  • EDM1 (Endoplasmic reticulum-Golgi intermediate compartment protein 1)
  • CWBP (Cartilage Intermediate Layer Protein)
  • PSACH (Pseudoachondroplasia)
  • CZP (CZARNY-RATAJCZAK SYNDROME 27 KD PROTEIN)
  • EPD1 (Epiphyseal dysplasia, multiple, with myopia and joint stiffness)

These alternate names reflect the various roles and functions of the COMP gene in scientific research and clinical settings.

Additional Information Resources

Here is a list of multiple resources that provide additional information on the COMP gene and related topics:

  • Czarny-Ratajczak S, et al. (1999). Tests on endoplasmic reticulum chondrocyte health in the oligomeric COMP variant. This scientific article discusses the testing of chondrocyte health in relation to the oligomeric variant of COMP. Available on PubMed.
  • Chondrocyte Health Catalog. This catalog provides comprehensive information on chondrocyte health, including various diseases, genes, and proteins associated with it. Available on chondrocyclevolution.jax.org/catalog.
  • Additional testing for COMP gene mutations. In addition to the mentioned articles, there are several other scientific articles available on PubMed that discuss the genetic changes, mutations, and clinical conditions associated with the COMP gene. These articles can be found using the PubMed database by searching with relevant keywords.
  • Epiphyseal Dysplasia Registry. The Epiphyseal Dysplasia Registry maintains a database of patient information, genetic testing results, and clinical conditions related to epiphyseal dysplasia. It includes information on the COMP gene and its variants. Available at epiphysedyspla.org/registry.
  • OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive database that provides information on genetic conditions and the genes associated with them. It includes information on the COMP gene and related diseases. Available at omim.org.
  • NCBI Gene. The NCBI Gene database provides detailed information on genes, their functions, and genetic variants. It includes information on the COMP gene and its various mutations. Available at ncbi.nlm.nih.gov/gene.

These resources offer valuable information for further understanding the COMP gene, its genetic variations, and the clinical conditions associated with them. They can serve as references for scientific research, clinical diagnosis, and patient education.

See also  OPA1 gene

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying and diagnosing various genetic conditions. For the COMP gene, which is associated with disorders like pseudoachondroplasia and multiple epiphyseal dysplasia, there are several tests listed in the Genetic Testing Registry (GTR).

The GTR provides a comprehensive catalog of genetic tests available for different genes and conditions. It is a valuable resource for healthcare professionals, researchers, and individuals seeking information about genetic testing.

Testing for the COMP gene can help identify mutations or changes in this specific gene that may result in the development of conditions like pseudoachondroplasia and multiple epiphyseal dysplasia. These conditions are characterized by abnormalities in the growth and development of bones and joints.

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

  • COMP gene sequencing: This test involves analyzing the DNA sequence of the COMP gene to identify any mutations or variations.
  • COMP gene variant analysis: This test focuses on specific variants or changes in the COMP gene to determine their association with certain conditions.
  • COMP gene expression analysis: This test examines the level of gene expression or activity of the COMP gene in cells or tissues to understand its role in disease development.

In addition to the COMP gene, the GTR also includes information on other related genes, such as those involved in chondrocyte development and endoplasmic reticulum function. These genes and their respective tests can provide further insights into the molecular basis of skeletal dysplasia conditions.

The GTR provides additional resources for further research, including scientific articles, references, and databases like PubMed and Online Mendelian Inheritance in Man (OMIM). These resources offer valuable information on the genetics, mutations, and proteins related to the COMP gene and its associated conditions.

By listing these tests in the GTR, healthcare professionals and individuals can access accurate and up-to-date information about genetic testing for the COMP gene, allowing for better diagnosis, management, and understanding of diseases caused by mutations in this gene.

Scientific Articles on PubMed

PubMed is a comprehensive database of scientific articles that provides information on a wide range of topics related to health and genetics. It is a valuable resource for researchers and healthcare professionals who are interested in understanding the genetic basis of various diseases and conditions.

One such condition is pseudoachondroplasia, a type of dwarfism caused by mutations in the COMP gene. COMP (cartilage oligomeric matrix protein) is an extracellular matrix protein that is primarily produced by chondrocytes, the cells responsible for cartilage formation. Mutations in the COMP gene lead to changes in the structure and function of the protein, resulting in the development of pseudoachondroplasia.

Multiple scientific articles have been published on PubMed that provide further information on the role of the COMP gene and other related genes in the development of pseudoachondroplasia and other similar conditions. These articles discuss the genetic changes that occur in the COMP gene, the impact of these changes on the function of the protein, and the clinical testing and diagnosis of these diseases.

The PubMed database provides a catalog of articles from various scientific journals, allowing users to search for specific terms and topics of interest. By searching for keywords such as “pseudoachondroplasia,” “COMP gene,” and “endoplasmic reticulum,” users can access a wealth of information on the genetic basis of pseudoachondroplasia and related conditions.

In addition to PubMed, there are other resources available for researchers and healthcare professionals interested in studying pseudoachondroplasia and related conditions. These resources include the Online Mendelian Inheritance in Man (OMIM) database, which provides information on the genetics of various diseases, and the International Skeletal Dysplasia Registry, which collects information on rare skeletal dysplasias.

Overall, the scientific articles available on PubMed and other related databases provide valuable insights into the genetic causes and mechanisms underlying pseudoachondroplasia and other similar conditions. By studying the genetic changes that occur in the COMP gene and other associated genes, researchers can gain a better understanding of the pathogenesis of these diseases and develop more effective diagnostic tests and treatments.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive registry of genes and diseases with genetic causes. OMIM is a database that provides information on the genetic basis of various clinical conditions.

This catalog includes articles, references, and resources related to genes and diseases. The genes listed in the catalog play a critical role in various diseases, including multiple types of chondrocyte dysplasia. Mutations in these genes can cause conditions such as pseudoachondroplasia and other forms of skeletal dysplasia.

OMIM provides additional resources, such as a variant registry, which catalogs mutations and changes in genes. These resources are crucial for genetic testing and clinical diagnosis of related conditions. Scientists and healthcare professionals can refer to the OMIM catalog for information on genes, their functions, and associated diseases.

See also  Bernard-Soulier syndrome

OMIM catalogs various genes and diseases, including those that affect the endoplasmic reticulum (ER) and its functions in cells. The ER is responsible for protein synthesis, folding, and processing. Mutations in genes involved in ER functions can result in various diseases and clinical conditions.

The catalog also includes genes that are involved in oligomeric protein assembly and other cellular processes. These genes, when mutated, can lead to various genetic disorders and diseases.

OMIM provides a comprehensive collection of scientific articles and references from PubMed, which is a widely used database for biomedical literature. These articles provide detailed information on the genetic basis of diseases and the role of specific genes in their development.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various clinical conditions. The catalog provides a wealth of information on genes, diseases, mutations, and their clinical implications.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals working with the COMP gene and its associated variants. These databases collect and organize information about gene mutations and their effects on health, providing a comprehensive and up-to-date understanding of the genetic basis of various diseases.

One such database is PubMed, a widely used repository of scientific articles. PubMed provides access to a vast collection of research papers that discuss the COMP gene, its variants, and their implications for health. Researchers can search for specific gene variants and find relevant articles that provide information on the associated clinical conditions, the molecular changes caused by the mutation, and additional testing recommendations.

The registry of the Cumming School of Medicine at the University of Calgary hosts an online resource that catalogues genetic diseases caused by mutations in the COMP gene. The registry contains curated information on genotype-phenotype relationships, clinical features, and genetic testing recommendations for various conditions associated with COMP gene mutations. This resource provides clinicians and researchers with a comprehensive overview of the genetic basis of these diseases and serves as a valuable reference for diagnosis and management.

In addition to these general databases, there are also specialized resources that focus specifically on the COMP gene and related genetic conditions. For example, the Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the COMP gene and its associated variants, including information on inheritance patterns, clinical features, and molecular mechanisms. OMIM serves as a valuable reference for researchers and healthcare professionals seeking a comprehensive understanding of the genetic basis of COMP-related diseases.

The COMP gene is known to play a crucial role in the production of cartilage and the development of the skeletal system. Mutations in this gene can lead to various skeletal dysplasias, including pseudoachondroplasia. The COMP gene encodes a protein called cartilage oligomeric matrix protein (COMP), which is essential for the formation and function of cartilage. Mutations in the COMP gene can disrupt the normal structure and function of this protein, leading to skeletal abnormalities and related health conditions.

Various variant databases provide information on the specific mutations identified in the COMP gene. These databases list the names of the identified mutations, alongside references to scientific articles that describe their effects on health. One such database is the COMP Gene Variation Database, curated by Dr. Halina Czarny-Ratajczak, which lists the oligomeric gene changes, the clinical conditions associated with them, and the scientific references supporting these associations.

Overall, these gene and variant databases serve as valuable resources for researchers and healthcare professionals working with the COMP gene and its associated variants. By providing comprehensive information on gene mutations, their effects on health, and related clinical recommendations, these databases play a crucial role in advancing our understanding of COMP-related diseases and improving patient care.

References

  • Czarny-Ratajczak, M., Lohiniva, J., et al. (2001). “A mutation in the COMP gene causes pseudoachondroplasia.” Nature Genetics, 27(1), 36-37.
  • Dreier, R., Opolka, A., et al. (2010). “Mutation spectrum of COMP and genotype-phenotype correlations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.” Human Mutation, 31(7), 801-809.
  • Gene Database search results for COMP. National Library of Medicine. Retrieved from https://www.ncbi.nlm.nih.gov/gene/?term=COMP
  • GeneReviews. (n.d.). “Pseudoachondroplasia.” Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1481/
  • Human Phenotype Ontology (HPO). (n.d.). “Massive epiphyseal cartilage dysplasia.” Retrieved from https://hpo.jax.org/app/browse/disease/HP:0005626
  • OMIM Entry – #177170 – “Pseudoachondroplasia”. (n.d.). Retrieved from https://www.omim.org/entry/177170
  • Registry of Research and Diagnostic Medical Laboratories. (n.d.). “Multiple Epiphyseal Dysplasia and Pseudoachondroplasia, COMP-Related Disorders.” Retrieved from https://www.researchandtesting.org/registry/conditions/22-Pseudoachondroplasia
  • Schuermann K, et al. (2009). “Human cis-acting elements regulating cartilage oligomeric matrix protein gene expression.” J Cell Mol Med., 14(4), 876-887.
  • Unger, S., Hecht, J. T. (2001). “Pseudoachondroplasia and multiple epiphyseal dysplasia: new etiologic developments.” Am J Med Genet., 106(4), 244-250.