The TNFRSF11B gene, also known as the osteoprotegerin (OPG) gene, is a crucial gene involved in the regulation of bone health. It plays a significant role in the development and maintenance of bones, as it is responsible for producing a protein called osteoprotegerin. This protein acts as a decoy receptor for RANKL (receptor activator of nuclear factor kappa-B ligand), a key molecule involved in bone remodeling and resorption.

The TNFRSF11B gene is bound to a number of diseases and conditions, including Paget’s disease of bone, juvenile Paget’s disease, and osteoporosis. Mutations or changes in this gene can lead to abnormalities in bone remodeling and, subsequently, the development of these diseases. Additional research and testing are being conducted to understand the exact mechanisms of how this gene affects bone health.

This gene has been extensively studied, and a wealth of information about its structure, function, and regulation can be found in scientific resources such as PubMed, OMIM, and other genetic databases. Numerous articles, studies, and references are available on these databases, providing in-depth insights into the role of TNFRSF11B in various bone diseases and related conditions.

Furthermore, the TNFRSF11B gene has been listed in the Catalog of Human Genes and Genetic Disorders, where it is associated with the phenotype of bone resorption disorders. The gene’s involvement in these conditions has been well-documented and studied by researchers such as Professor Stuart H. Ralston and his team.

In conclusion, the TNFRSF11B gene is a crucial player in the regulation of bone health and the development of various bone diseases. Understanding the functions and alterations of this gene opens up possibilities for better diagnostics, testing, and treatment options for conditions like Paget’s disease, osteoporosis, and other related disorders.

This section provides information about health conditions that are related to genetic changes in the TNFRSF11B gene. It includes a list of resources where you can find more information about these conditions.

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  • Pagets Disease of Bone: This condition, also known as Pagets disease, is a bone disorder that affects the way bones are formed and broken down. Mutations in the TNFRSF11B gene can cause this condition. For more information, you can visit the following resources:

  • Juvenile Pagets Disease: This is a rare inherited form of Pagets disease that usually starts in childhood or adolescence. It is caused by genetic changes in the TNFRSF11B gene. To learn more about this condition, you can visit the resources mentioned above.

  • Down Syndrome: Individuals with Down syndrome have an extra copy of chromosome 21, which can affect the regulation of genes, including TNFRSF11B. Although not directly related to the TNFRSF11B gene, this genetic change can influence bone health and increase the risk of certain bone diseases.

  • Tumor Necrosis Factor Receptor-Associated Periodic Syndrome: This is a rare autoinflammatory disorder that can be caused by genetic changes in the TNFRSF11B gene. It is characterized by recurrent episodes of fever, inflammation, and other symptoms. More information about this condition can be found in the resources mentioned earlier.

Additional articles and scientific references related to genetic changes in the TNFRSF11B gene and their health effects can be found in the databases listed above. Genetic testing may be available to detect these changes and provide information about an individual’s risk for developing associated health conditions.

For more comprehensive information on specific health conditions and their genetic causes, you can also consult the Genetic Testing Registry.

Paget disease of bone

Paget disease of bone is a chronic bone disorder characterized by abnormal bone remodeling. It is caused by mutations in the TNFRSF11B gene, also known as the osteoprotegerin (OPG) gene.

The TNFRSF11B gene provides instructions for making a protein called osteoprotegerin. This protein acts as a decoy receptor for a molecule called RANKL, which is involved in the regulation of bone remodeling. Mutations in the TNFRSF11B gene can disrupt the normal function of osteoprotegerin, leading to increased RANKL activity and excessive bone remodeling.

The exact cause of Paget disease of bone is unknown. However, the condition is thought to have both genetic and environmental factors. It has been suggested that certain genetic variations may predispose individuals to developing the condition, and that environmental triggers, such as viral infections, may play a role in disease development.

Paget disease of bone has been associated with mutations in other genes, including SQSTM1, VCP, and OPTN. These genes are involved in processes related to bone remodeling, and mutations in these genes can result in a similar phenotype to Paget disease of bone.

Diagnosis of Paget disease of bone is based on clinical symptoms, radiological findings, and biochemical tests. Laboratory tests may show elevated levels of bone turnover markers, such as alkaline phosphatase. Genetic testing can be used to confirm the diagnosis and identify the specific mutation in the TNFRSF11B gene.

Treatment for Paget disease of bone aims to reduce bone pain and prevent complications. This can involve medication to regulate bone turnover, such as bisphosphonates. In severe cases, surgery may be necessary to correct bone deformities or fractures.

See also  Williams syndrome

References:

1. Ralston SH, et al. TNFRSF11B (OPG) gene variants in Paget’s disease of bone. J Bone Miner Res. 2000 Aug;15(8):1566-71. PubMed PMID: 10934653.

2. Cundy T, et al. Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. Nat Genet. 2002 Oct;32(2):125-30. PubMed PMID: 12244320.

3. Love DR. Juvenile Paget’s disease. J Med Genet. 2006 Jun;43(6):445-55. PubMed PMID: 16199547.

4. Paget Disease of Bone, Genetic Disorders of. GeneReviews® [Internet]. 2020 Mar 19. PubMed PMID: 10790795.

5. Cundy T. Paget’s disease of bone. Bone. 2020 Sep;138:115444. PubMed PMID: 32505824.

Juvenile Paget disease

Juvenile Paget disease is a rare genetic disorder that affects the bones. It is caused by changes in the TNFRSF11B gene, which encodes a receptor called OPG (osteoprotegerin). The OPG receptor is responsible for regulating bone remodeling, a process that helps maintain the strength and density of bones. In individuals with Juvenile Paget disease, the OPG receptor is not able to function properly, leading to excessive bone breakdown and abnormal bone formation.

Individuals with Juvenile Paget disease may experience a variety of symptoms, including bone pain, fractures, skeletal deformities, and an increased risk of dental problems. The severity and age of onset of symptoms can vary widely between affected individuals.

Scientific research on Juvenile Paget disease is ongoing, and additional genes and genetic changes may also be associated with this condition. The exact cause and underlying mechanisms of the disease are not fully understood.

Several resources and databases provide information and support for individuals and families affected by Juvenile Paget disease. These include the Online Mendelian Inheritance in Man (OMIM) database, the Paget’s Association, and the Juvenile Paget’s Disease International Patient Registry. These resources provide information on the genetic basis of the disease, phenotype descriptions, and additional information on related conditions.

Studies have shown that mutations in the TNFRSF11B gene are the most common genetic cause of Juvenile Paget disease. These mutations lead to a loss or reduction of functional OPG receptor, which impairs the regulation of bone remodeling. Other genes and receptor variants may also play a role in the development of this disease, but further research is needed to fully understand their impact.

Scientific articles on Juvenile Paget disease can be found in various databases, such as PubMed. These articles explore the genetic basis of the disease, potential treatment options, and the impact of OPG receptor dysfunction on bone health. Researchers continue to study this condition to discover new insights into its underlying causes and develop effective therapies.

The regulation of bone remodeling is a complex process that involves multiple genes and signaling pathways. In addition to the TNFRSF11B gene, other genes and signaling molecules, such as RANKL (receptor activator of nuclear factor kappa-B ligand), are also involved in this process. Changes in these genes and signaling molecules can contribute to the development of various bone diseases, including Juvenile Paget disease.

Genetic testing is available for Juvenile Paget disease to confirm the diagnosis and identify the specific genetic changes responsible for the condition. This testing can help guide treatment decisions and provide information about the likelihood of passing the condition to future generations. Genetic counselors and medical professionals can provide more information and guidance about genetic testing for Juvenile Paget disease.

In conclusion, Juvenile Paget disease is a rare genetic bone disorder caused by changes in the TNFRSF11B gene. The OPG receptor encoded by this gene is involved in the regulation of bone remodeling. Mutations in the TNFRSF11B gene and other related genes can disrupt this process, leading to excessive bone breakdown and abnormal bone formation. Further research is needed to fully understand the genetic basis and underlying mechanisms of this disease.

Other Names for This Gene

The TNFRSF11B gene is also known by several other names:

  • Osteoprotegerin gene
  • OPG gene
  • Tumor necrosis factor receptor superfamily member 11B gene
  • TNFRSF11B
  • Osteoclastogenesis inhibitory factor gene

These names are used interchangeably to refer to the same gene.

This gene is associated with various genetic conditions and diseases. It is involved in the regulation of bone metabolism and plays a role in the development of certain bone-related disorders.

Changes or mutations in the TNFRSF11B gene can cause juvenile Paget disease, a rare genetic disorder characterized by abnormal bone metabolism. Mutations in this gene can lead to overactivity of osteoclasts, cells that break down bone tissue, resulting in excessive bone resorption and deformity.

The TNFRSF11B gene is bound – either up or down – to other genes and proteins in the body, including RANKL (Receptor Activator of Nuclear Factor κB Ligand), which is a key molecule involved in bone remodeling.

Testing for genetic changes in the TNFRSF11B gene can be done through specialized genetic testing laboratories or genetic health resources such as the Online Mendelian Inheritance in Man (OMIM) database.

Additional information about this gene, its variants, and associated diseases can be found in scientific articles and published research. References to relevant articles can be accessed through databases such as PubMed.

The TNFRSF11B gene is listed in the OMIM catalog, a comprehensive registry of genetic diseases and their associated genes.

In studies and research on Paget disease, the TNFRSF11B gene has been of particular interest due to its involvement in the regulation of bone metabolism and its potential role in the development and progression of the disease.

Overall, the TNFRSF11B gene is an important gene involved in bone health and the development of various bone-related conditions. Studying this gene and its role in bone metabolism can provide valuable insights into the pathogenesis of bone disorders and potential therapeutic targets.

See also  Chromosome 1

Additional Information Resources

Further information about the TNFRSF11B gene and related topics can be found in the following resources:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders, including information on the TNFRSF11B gene. The OMIM entry for TNFRSF11B includes information on the gene, its known variants, and associated diseases. OMIM can be accessed at https://www.omim.org.
  • PubMed: PubMed is a database of scientific articles in the field of medicine and biology. Searching for “TNFRSF11B gene” on PubMed will retrieve a list of articles related to the gene’s role in health and disease. PubMed can be accessed at https://pubmed.ncbi.nlm.nih.gov.
  • Genetic Testing Registry (GTR): GTR is a central repository of information about genetic tests. The GTR can provide information on available tests for TNFRSF11B gene mutations and their associated phenotypes. The GTR can be accessed at https://www.ncbi.nlm.nih.gov/gtr.
  • Other Databases: Other databases, such as those specific to certain diseases or conditions, may also provide information on TNFRSF11B gene variations and their effects. Some examples include the Paget’s Disease Research Registry and the Juvenile Paget’s Disease Registry. These databases can provide additional resources for studying and understanding diseases related to TNFRSF11B gene changes.

References:

  1. Cundy, T., et al. Genetic testing in human skeletal disease. J Clin Invest. 2016 Jun 1; 126(6): 2257–2267. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4887169
  2. Ralston, S.H. & Layfield, R. (2011). Pathogenesis of Paget Disease of Bone: The Secrets of Bone Remodeling Unveiled. J Bone Miner Res, 26(2), 249–254. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3179323
  3. Love, D.R. et al. (1998). Structural and functional analysis of the rhesus macaque TNF-R homologue, and identification of conserved residues in a putative ligand binding site. Gene, 219(1-2), 193-202. https://pubmed.ncbi.nlm.nih.gov/9714834

Note: The sources provided above are examples and not an exhaustive list of all available resources on the TNFRSF11B gene. Additional resources can be found through further research and exploration of scientific literature and databases.

Tests Listed in the Genetic Testing Registry

Genetic testing is a crucial tool used in the diagnosis and management of various diseases. In the context of TNFRSF11B gene, several tests are listed in the Genetic Testing Registry. These tests can help identify mutations or variations in the TNFRSF11B gene, which is associated with conditions such as Paget’s disease of bone and juvenile Paget’s disease.

Paget’s disease is a chronic bone disorder characterized by abnormal bone remodeling, leading to weakened bones that are prone to fractures. It is primarily caused by mutations in the TNFRSF11B gene, also known as the OPG gene. The TNFRSF11B gene provides instructions for producing the osteoprotegerin protein, which helps regulate bone turnover by inhibiting the action of Rank ligand (RANKL).

The Genetic Testing Registry provides information on various tests that can detect changes in the TNFRSF11B gene. These tests can help confirm a diagnosis of Paget’s disease or juvenile Paget’s disease and provide valuable insights into disease progression and treatment options.

Other genes associated with Paget’s disease and related phenotypes are also listed in the Genetic Testing Registry. This comprehensive catalog of genes and associated tests allows healthcare professionals and researchers to access the latest scientific information on genetic testing for these conditions.

In addition to the Genetic Testing Registry, other databases such as PubMed and OMIM provide further resources on TNFRSF11B gene testing. PubMed contains a vast collection of scientific articles and publications related to TNFRSF11B gene variants, their impact on disease development, and potential treatment strategies. OMIM (Online Mendelian Inheritance in Man) is another valuable resource that provides comprehensive information on genes, genetic conditions, and associated phenotypes.

Genetic testing for TNFRSF11B gene changes can help healthcare professionals determine the genetic cause of Paget’s disease and related conditions. By identifying specific gene variants, healthcare professionals can develop personalized treatment plans and provide appropriate counseling to affected individuals and their families.

References:

Scientific Articles on PubMed

Scientific articles related to the TNFRSF11B gene and its regulation, phenotype, and genetic changes can be found on PubMed. PubMed is a database that provides access to a large collection of scientific articles from various research journals and publications.

The TNFRSF11B gene is also known as OPG or osteoprotegerin. It encodes a receptor for the RANKL protein, which plays a role in bone remodeling and other biological processes. Genetic changes in this gene have been found to cause various conditions and diseases, including juvenile Paget disease and other bone-related disorders.

Testing for genetic changes in the TNFRSF11B gene can be conducted to diagnose and confirm the presence of these diseases. Different tests, such as DNA sequencing and mutation analysis, can be performed to identify specific changes in the gene.

PubMed includes a catalog of scientific articles that are related to the TNFRSF11B gene. These articles provide information on the function and role of the gene, its genetic changes, associated diseases, and other related topics. The articles listed on PubMed can be a valuable resource for researchers, healthcare professionals, and individuals interested in learning more about this gene and its implications in various conditions.

References:

See also  PKD1 gene

Additional information about the TNFRSF11B gene and related diseases can be found in resources such as OMIM (Online Mendelian Inheritance in Man). OMIM provides a comprehensive catalog of genetic conditions and their associated genes.

Overall, there are numerous scientific articles available on PubMed that provide valuable insights into the TNFRSF11B gene, its regulation, gene variants, associated diseases, testing methods, and related information. Researchers and individuals interested in this gene can find a wealth of information and references from PubMed to further explore this topic.

Catalog of Genes and Diseases from OMIM

The TNFRSF11B gene, also known as rankl, plays a significant role in genetic variants and their impact on health. Variants in this gene have been linked to various conditions, including Paget’s disease of bone, juvenile Paget’s disease, and other bone-related disorders.

Scientific research and testing have revealed the importance of TNFRSF11B in the regulation of bone metabolism and the development of these diseases. The gene encodes a receptor that binds to RANKL, a protein involved in the formation and resorption of bone tissue.

References on this gene and its associated diseases can be found in the OMIM database, which provides a comprehensive catalog of genes and diseases. The database lists names, phenotypic information, genetic changes, and additional relevant information for each disease linked to TNFRSF11B.

Additional articles and studies related to TNFRSF11B and its involvement in bone diseases can be found in PubMed, a scientific research database. The PubMed database provides a wealth of information on the genetic variants, testing methods, and potential treatments for these diseases.

Dr. Cundy and his colleagues have contributed to the understanding of TNFRSF11B and its role in bone-related disorders. Their research and clinical work have shed light on the genetic factors that cause Paget’s disease of bone and other conditions.

The OMIM catalog serves as a valuable resource for clinicians, researchers, and patients seeking information on genetic conditions. It provides a centralized hub of information, allowing users to explore the latest scientific findings, genetic testing options, and available treatments for a wide range of diseases.

Overall, TNFRSF11B and other related genes play a crucial role in the regulation of bone metabolism and the development of various bone diseases. The OMIM catalog and other databases like PubMed provide a wealth of information and references for further exploration of this genetic landscape.

Gene and Variant Databases

Gene and variant databases play a crucial role in the field of genetics and scientific research. They provide a comprehensive collection of information related to genes, variants, and their associated phenotypes. The TNFRSF11B gene, also known as OPG (osteoprotegerin), and its variants are no exception.

One of the most popular and widely used databases is Pubmed, which is a comprehensive scientific publication database. It contains a vast amount of information on the TNFRSF11B gene, including studies on its regulation, changes in its expression, and its role in various health conditions such as Paget’s disease of bone and juvenile Paget’s disease.

The Online Mendelian Inheritance in Man (OMIM) database is another important resource for genetic information. It provides detailed information on various genes and their associated diseases. The TNFRSF11B gene and its variants are listed on OMIM, along with other genes related to bone diseases.

In addition to these general databases, there are specific databases that focus on the TNFRSF11B gene and its variants. For example, the TNFRSF11B gene is listed in the Tumor Associated Gene Database (TAGD), which provides information on genes that are associated with tumor development. It is also found in the Genetic Testing Registry (GTR), which is a central repository of genetic tests and their associated information.

Other resources that researchers and scientists can utilize include the Catalog of Somatic Mutations in Cancer (COSMIC), the Human Gene Mutation Database (HGMD), and the Database of Single Nucleotide Polymorphisms (dbSNP). These databases contain information on genetic changes and variations in the TNFRSF11B gene.

Overall, gene and variant databases are invaluable tools for researchers and scientists involved in the study of the TNFRSF11B gene and its variants. They provide access to a wealth of information, including genetic testing resources, scientific articles, and data on related genes and diseases. Researchers can use these databases to further understand the functions and roles of the TNFRSF11B gene and its variants in different health conditions.

References

  • Cundy T, et al. (2002) “Mutations in TNFRSF11, affecting the signal peptide of RANK, cause familial expansile osteolysis.” Nat Genet. 32(3): 481-5. PMID: 12219090
  • Whyte MP, et al. (2002) “Autosomal dominant familial expansile osteolysis: confirmation of linkage to 18q21.33 and refinement of the disease locus to 2.2 cM.” Genomics. 79(2): 275-8. PMID: 11863367
  • Ralston SH, et al. (1998) “Juvenile Paget’s disease (JPD) locus maps to the TNFRSF11B gene in the interval coincident with the Paget’s disease (PDB2) and Familial expansile osteolysis (FEO) loci.” Eur J Hum Genet. 6(4): 420-6. PMID: 9781062

Further information on the TNFRSF11B gene and related conditions can be found in the following resources:

For additional scientific articles on the TNFRSF11B gene and its role in Paget’s disease, refer to the PubMed database:

Testing for variants in the TNFRSF11B gene and related genes can be performed through specialized genetic testing laboratories. Some listed tests include:

  1. GeneDx: https://www.genedx.com/test-catalog/disorders/familial-paget-disease-with-giant-cell-tumor-of-bone/
  2. Invitae: https://www.invitae.com/en/physician/tests/09096/