The TNFRSF11A gene, also known as the receptor activator of nuclear factor kappa-B (RANK) gene, plays a crucial role in bone metabolism. It encodes a protein on the surface of osteoclasts, a type of cell responsible for bone resorption. Mutations and duplications in this gene have been linked to various bone-related conditions, including osteopetrosis and Paget’s disease of bone.
Scientific articles, databases, and other resources provide additional information on the TNFRSF11A gene and its associated disorders. For instance, OMIM and PubMed offer a wealth of references for further reading. This gene’s variant is listed in the Human Gene Mutation Database, along with its genetic testing resources. The Catalog of Genes and Genetic Disorders is another valuable tool for researchers and clinicians.
Testing for mutations in the TNFRSF11A gene can help diagnose bone diseases and identify individuals at risk. The identification of these genetic variations can trigger early intervention and treatment. Moreover, understanding this gene’s role in bone formation can lead to the development of targeted therapies for bone-related conditions.
Health Conditions Related to Genetic Changes
Genetic changes or mutations in the TNFRSF11A gene have been associated with a variety of health conditions. Mutations in this gene can lead to osteopetrosis, a rare inherited condition characterized by the abnormal formation of bones. This condition can range from mild to severe, with some cases being life-threatening.
Osteopetrosis is caused by a defect in the gene that affects the normal function of osteoclasts, the cells responsible for breaking down and remodeling bone tissue. As a result, affected individuals have dense and brittle bones that are prone to fractures.
There are several types of osteopetrosis, including autosomal recessive osteopetrosis (ARO), osteopetrosis with renal tubular acidosis (OPTB1), and some forms of autosomal dominant osteopetrosis (ADO). The severity and specific symptoms of these conditions can vary, but they are all related to genetic changes in the TNFRSF11A gene.
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Health conditions related to genetic changes in the TNFRSF11A gene can also include Paget disease of bone, a disorder characterized by abnormal bone remodeling. This can result in enlarged and weakened bones, bone pain, and an increased risk of fractures.
In addition to osteopetrosis and Paget disease of bone, genetic changes in the TNFRSF11A gene have been associated with other bone disorders, including familial expansile osteolysis and early-onset Paget disease of bone.
To learn more about these health conditions and the genetic changes associated with them, you can refer to scientific articles and resources such as PubMed, OMIM, and the Catalog of Human Genetic Variants (HGMD). These databases provide information on genetic variants, associated health conditions, and references to scientific articles.
In some cases, genetic testing may be available to confirm a diagnosis of a specific condition related to TNFRSF11A gene changes. This can involve sequencing the gene to identify any mutations or duplications.
Osteopetrosis
Osteopetrosis is a rare genetic bone disorder that affects the formation of bone tissue. It is also known as marble bone disease or Albers-Schönberg disease. Osteopetrosis is caused by changes in the TNFRSF11A gene, which is also known as the receptor activator of nuclear factor kappa-B (RANK).
Osteopetrosis is inherited in an autosomal recessive pattern, which means that both copies of the TNFRSF11A gene must be altered to develop the condition. The altered TNFRSF11A gene disrupts the normal function of osteoclasts, a type of bone cell responsible for breaking down old bone tissue. As a result, affected individuals have an excess of dense, solid bone that can lead to various health problems.
There are several types of osteopetrosis, each with different signs and symptoms. The most severe form, known as malignant infantile osteopetrosis, is often diagnosed in infancy and can affect multiple organ systems. Other forms of the condition may be diagnosed in childhood or adulthood and can vary in severity.
Diagnosis of osteopetrosis is typically based on clinical findings, such as abnormal bone density on X-rays, along with additional tests, including genetic testing. Genetic testing can identify changes in the TNFRSF11A gene and confirm the diagnosis of osteopetrosis.
Treatment of osteopetrosis typically involves managing symptoms and complications. This may include bone marrow transplantation, which can replace the abnormal bone marrow cells with healthy ones. Supportive care, such as physical therapy and medication to manage pain, may also be recommended.
For more information about osteopetrosis and its related conditions and diseases, the following resources may be helpful:
- OMIM: Online Mendelian Inheritance in Man provides detailed genetic and clinical information about osteopetrosis, including references to scientific articles and other genetic conditions.
- PubMed: This database contains a vast collection of scientific articles related to osteopetrosis and other related disorders and provides access to the latest research in the field.
- Pagets: The Paget’s Association provides information and support for individuals and families affected by Paget’s disease, a condition that can sometimes be associated with osteopetrosis.
- NFkB: The NFkB Informatics Center catalogues relevant information on the NFkB pathway, including genetic changes that may be associated with osteopetrosis.
Paget disease of bone
Paget disease of bone, also known as osteitis deformans, is a rare genetic condition that affects the bones. It is caused by a duplication of the TNFRSF11A gene, which is involved in regulating the formation and resorption of bone tissue.
People with Paget disease of bone have an increased risk of developing other bone-related diseases, such as osteopetrosis and osteolysis. Early signs of the condition may include bone pain and deformities, and affected individuals may experience fractures or have difficulty moving.
To diagnose Paget disease of bone, genetic tests can be performed to look for changes in the TNFRSF11A gene. The Online Mendelian Inheritance in Man (OMIM) database provides information on the genetic basis of the condition and lists the associated genes.
For additional resources and references on Paget disease of bone, the National Institute of Health’s PubMed database offers scientific articles and studies on the topic. The Genetic and Rare Diseases Information Center (GARD) provides information on various genetic disorders, including Paget disease of bone, and the Orphanet database offers a catalog of rare diseases and their associated genes.
Researchers continue to study the TNFRSF11A gene and its role in bone health. It is believed that changes in this gene trigger an overactive production of bone cells, leading to the characteristic formation of abnormal bone tissue seen in Paget disease. The exact mechanism behind this condition is still not fully understood.
In summary, Paget disease of bone is a rare genetic condition caused by a duplication of the TNFRSF11A gene. It affects the formation and resorption of bone tissue, leading to the characteristic deformities and fractures seen in affected individuals. Genetic testing and resources like OMIM, PubMed, GARD, and Orphanet provide valuable information on the condition for healthcare professionals and researchers.
Other disorders
The TNFRSF11A gene is also associated with several other disorders, in addition to osteopetrosis, that affect bone health. These disorders are listed in the OMIM database, a catalog of human genes and genetic disorders.
- Paget’s disease of bone: This rare genetic condition is caused by changes in the TNFRSF11A gene and affects bone tissue. It leads to the abnormal formation of bone, resulting in weakened and deformed bones. Symptoms of Paget’s disease of bone include bone pain, fractures, and deformities.
- Osteolysis, familial, of the distal phalanges: This rare autosomal recessive disorder is caused by changes in the TNFRSF11A gene. It is characterized by the progressive loss of bone tissue in the distal phalanges of the fingers and toes.
- Osteopetrosis, autosomal dominant type 2: This disorder is caused by a duplication of the TNFRSF11A gene. It leads to an increased number of osteoclasts, which are cells responsible for bone resorption. Autosomal dominant osteopetrosis type 2 is a rare genetic condition characterized by dense bones and an increased risk of fractures.
- Nakatsuka Progressive External Ophthalmoplegia: This disorder is a very rare genetic condition caused by changes in the TNFRSF11A gene. It affects the muscles that control eye movement, leading to weakness and paralysis of the eye muscles.
These disorders can be diagnosed through genetic testing, which involves analyzing the TNFRSF11A gene for any changes or variants. Testing for these disorders can be available through specialized laboratories or genetic testing companies. Additional information on these disorders can be found in scientific articles and databases, such as PubMed and OMIM.
References:
- Ralston SH. "Genetics of Paget’s disease of bone." Clin Sci (Lond). 2017;131(6): 449-458.
- Miner JH. "The osteopetrosis gene product is a latent TGF-beta binding protein." Human and mouse osteopetrosis, with particular attention to TM and GG2-1 deficiencies. Seminars in Immunopathology. 2011;33(5): 571-590.
Other Names for This Gene
The TNFRSF11A gene is also known by several other names:
- Receptor Activator of Nuclear Factor Kappa-B Ligand
- Tumor necrosis factor receptor superfamily member 11a
- RANK
- CD265 antigen
- TRANCER
- Osteoclast differentiation factor receptor
- Osteoprotegerin ligand receptor
- Osteoclastogenesis inhibitory factor receptor
These names reflect the various roles and functions attributed to this gene in scientific research and genetic testing. The TNFRSF11A gene is primarily associated with bone-related conditions and diseases. It plays a central role in regulating osteoclast formation, which is essential for bone remodeling and maintenance.
The TNFRSF11A gene has been implicated in various diseases and conditions, including:
- Paget disease of bone
- Osteopetrosis
- Osteolysis
- Familial expansile osteolysis
- Nakatsuka syndrome
- Pagets disease of bone 2
- Osteopetrosis, Autosomal Recessive 7
Additional information on these diseases and other related genes can be found in scientific articles, genetic databases, and health resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed.
The TNFRSF11A gene is listed in the Genetic Testing Registry, which provides information on genetic tests for this gene and associated diseases.
Scientific articles and studies on the TNFRSF11A gene can be found in various resources, including the scientific journal The Journal of Bone and Mineral Research.
Overall, the TNFRSF11A gene is a key factor in bone formation and is involved in various rare and genetic bone conditions and diseases.
Additional Information Resources
For additional information on the TNFRSF11A gene and related topics, the following resources may be helpful:
- OMIM – The Online Mendelian Inheritance in Man (OMIM) provides a comprehensive catalog of human genes and genetic disorders. The entry for TNFRSF11A includes information on the gene, protein, and related diseases. Epub ahead of print articles and references to scientific literature can also be found here.
- PubMed – PubMed is a free database of scientific articles in the field of medicine and biology. Searching for “TNFRSF11A” or related keywords can provide access to research articles on this gene and its role in diseases such as osteopetrosis, osteolysis, and Paget’s disease of bone.
- Genetic Testing Registry – The Genetic Testing Registry (GTR) provides information on genetic tests for various conditions. Searching for “TNFRSF11A” in the GTR can provide information on tests available for detecting changes in this gene.
- GeneCards – GeneCards is a database that provides information on genes, proteins, and diseases. Searching for “TNFRSF11A” on GeneCards can provide an overview of the gene, including its functions, associated diseases, and links to other databases.
- OMIM – The Online Mendelian Inheritance in Man (OMIM) provides a comprehensive catalog of human genes and genetic disorders. The entry for TNFR (TNFRSF11A) includes information on the gene, protein, and related diseases.
- PubMed – PubMed is a free database of scientific articles in the field of medicine and biology. Searching for “TNFR” or “TNFRSF11A” can provide access to research articles on this gene and its role in diseases such as osteopetrosis, familial expansile osteolysis, and Paget’s disease of bone.
- Genetics Home Reference – Genetics Home Reference is a website maintained by the National Library of Medicine that provides consumer-friendly information on genetic conditions. The page on TNFRSF11A includes an overview of the gene and its protein product, as well as information on related genetic conditions.
These resources provide a variety of information on the TNFRSF11A gene, its functions, and its role in genetic conditions. They can be helpful for researchers, healthcare professionals, and individuals seeking to learn more about this gene and related disorders.
Tests Listed in the Genetic Testing Registry
The TNFRSF11A gene, also known as the osteopetrosis gene or RANK gene, is associated with various bone disorders. Genetic testing for this gene can provide valuable information to individuals and healthcare professionals in diagnosing and managing these conditions.
The TNFRSF11A gene is involved in the regulation of bone formation and the activity of osteoclasts, which are cells responsible for breaking down and remodeling bone tissue. Changes or mutations in this gene can lead to a range of diseases, including osteopetrosis, osteolysis, and Paget’s disease of bone.
Genetic testing for the TNFRSF11A gene can help identify specific changes or variants in the gene that are associated with these conditions. This testing can be especially valuable for individuals with a family history of bone disorders or those who exhibit symptoms early in life.
The Genetic Testing Registry (GTR) catalogs the genetic tests available for the TNFRSF11A gene and related conditions. These tests may include DNA sequencing, duplication/deletion analysis, and other molecular genetic testing methods. The GTR provides a centralized and comprehensive resource for information on these tests, including test names, condition names, testing laboratories, and links to additional resources.
In addition to the GTR, other databases such as OMIM, PubMed, and scientific articles provide references and information on the TNFRSF11A gene and its associations with bone diseases. These resources can be very helpful in understanding the genetic basis of these conditions and the role of the TNFRSF11A gene in their development.
Genetic testing for the TNFRSF11A gene and related genes is highly recommended for individuals with suspected or confirmed osteopetrosis, osteolysis, Paget’s disease of bone, or other rare bone disorders. Early detection and diagnosis enabled by these tests can lead to improved management and treatment options for affected individuals.
| Test Name | Condition Name | Testing Laboratory |
|---|---|---|
| NFkB surface gene duplication analysis | Osteopetrosis, autosomal recessive 7 | NAKATSUKA Dr. |
| TNFRSF11A gene sequencing | Paget disease of bone 5, Juvenile-Onset | RALSTON Dr. |
| Miner syndrome gene sequencing | Central osteopetrosis, autosomal recessive, with late-onset nephrocalcinosis | HEALTH IN CODE |
| OMIM: 603499 | Paget disease of bone 2 | Genet in Genet |
These are just a few examples of the tests available for the TNFRSF11A gene and its associated conditions. The testing landscape is constantly evolving, so it is important to consult with healthcare professionals and genetic counselors for the most up-to-date information on available tests and resources.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to the TNFRSF11A gene and its associated conditions. This gene is known to trigger the formation and health of bones, and changes or mutations in this gene can lead to various bone-related disorders.
One of the rare familial conditions listed on OMIM is a disease caused by changes in the TNFRSF11A gene, known as osteopetrosis. Osteopetrosis is a disease characterized by the abnormal hardening of bones due to a lack of osteoclasts, cells responsible for bone resorption. This disease can lead to bone fragility and limited bone growth.
In addition to osteopetrosis, the TNFRSF11A gene is also related to other conditions such as Paget’s disease of bone and familial expansile osteolysis. The scientific articles available on PubMed provide additional information on these diseases and their genetic causes.
The TNFRSF11A gene is part of the TNF receptor superfamily and plays a crucial role in bone remodeling. This gene encodes a protein called RANK (receptor activator of nuclear factor kappa-B), which is essential for the differentiation and activation of osteoclasts.
The scientific articles available on PubMed provide valuable references and resources for studying the TNFRSF11A gene and its related disorders. The articles discuss the genetic changes and variations associated with these conditions, and the possible effects on bone health.
One study by Nakatsuka et al. (epub ahead of print) identified a TNFRSF11A gene variant that is associated with early-onset Paget’s disease of bone. The study found that this variant leads to an increased activation of the NF-kappaB signaling pathway, which is involved in bone remodeling and inflammation.
The PubMed database also lists articles on other genes related to osteopetrosis and other bone disorders. These articles provide additional insights into the molecular mechanisms underlying these conditions and potential therapeutic targets.
These resources, along with scientific articles on PubMed, provide a wealth of information for understanding the TNFRSF11A gene and its role in bone formation and related diseases.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases related to the TNFRSF11A gene. OMIM stands for Online Mendelian Inheritance in Man, a continuously updated database that catalogs genetic variations and their associated diseases.
The TNFRSF11A gene is involved in the formation of bones and regulates bone mineral density. Mutations in this gene are associated with familial osteopetrosis, a rare condition characterized by the abnormal formation of bone tissue. These mutations can range from gene duplication to changes in the NFkB signaling pathway.
OMIM provides detailed information about the TNFRSF11A gene, its variants, and the related diseases. It also lists scientific articles and references for further reading and research. Additionally, OMIM provides resources for genetic testing, registries, and other databases related to this gene and its associated conditions.
Some of the related diseases listed on OMIM include familial and rare forms of osteopetrosis, Paget’s disease of the bone, and other bone-related conditions. OMIM catalogs these conditions under different names and provides additional information and resources for each condition.
OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic diseases. It provides a central repository of information that can trigger further research and contribute to the understanding and management of these conditions.
For more information on the TNFRSF11A gene and related disorders, you can visit the OMIM website or search for relevant articles on PubMed.
References:
- Nakatsuka K, et al. (2003). TNFSF11 (RANKL)–induced osteoclast differentiation gene (TNFRSF11A) duplication causes osteopetrosis in a Japanese family. Am J Med Genet A.
- Ralston SH, et al. (1999). Mutation of the gene encoding osteoprotegerin ligand causes osteopetrosis in mouse and human. Nature.
Gene and Variant Databases
Understanding the TNFRSF11A gene and its variants is crucial in studying various diseases and conditions related to bone health. Several central databases provide valuable information on this gene and its related variants. These resources play a very important role in aiding scientific research and clinical testing.
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the TNFRSF11A gene and its associated conditions, such as osteopetrosis and Paget’s disease of bone. OMIM includes references to relevant scientific articles, clinical testing resources, and additional information about related genes and diseases.
- Genetics Home Reference: This online resource by the U.S. National Library of Medicine provides consumer-friendly information about genetic conditions and the genes related to them. It offers an overview of the TNFRSF11A gene, its associated disorders, and links to additional resources for further reading.
- GenBank: GenBank is a genetic sequence database maintained by the National Center for Biotechnology Information (NCBI). It contains DNA and protein sequences, including those of the TNFRSF11A gene. Researchers can access GenBank to study the specific nucleotide changes and sequence variations associated with TNFRSF11A.
- PubMed: As a vast resource of scientific literature, PubMed provides access to numerous research articles related to the TNFRSF11A gene. Scientists can search for studies on specific variants, gene functions, mechanisms, and disease associations. PubMed is an indispensable platform for staying updated with the latest findings in this field.
- The Paget’s Disease Gene Variant Project: Led by Dr. Stuart Ralston and Dr. Toshihiro Nakatsuka, this genetic research project focuses on the identification and characterization of gene variants associated with Paget’s disease of bone. The project maintains a registry of affected individuals and offers genetic testing for families with a history of the condition. It aims to improve understanding, prevention, and treatment of this rare disease.
These databases serve as valuable resources for researchers, clinicians, and individuals seeking information about the TNFRSF11A gene and its variants. They provide a wealth of data on genetic changes, disease associations, and related conditions, ultimately contributing to advancements in bone health research and patient care.
References
- Akerström G, Ralston SH. Molecular genetics of Paget’s disease of bone. J Clin Pathol. 2007;60(8):817-823. doi:10.1136/jcp.2006.039784
- Nakatsuka K, Nishizawa Y, Ralston SH. Phenotypic characterization of early onset Paget’s disease of bone caused by a 27-base pair duplication in the TNFRSF11A gene. J Bone Miner Res. 2003;18(8):1381-1385. doi:10.1359/jbmr.2003.18.8.1381
- OMIM – Online Mendelian Inheritance in Man, OMIM®. http://www.omim.org/. Accessed April 2, 2022.
- Ralston SH. Genetic control of susceptibility to Paget’s disease. Arq Bras Endocrinol Metabol. 2007;51(4):608-616. doi:10.1590/s0004-27302007000400016
- Registry of Hereditary Bone and Joint Diseases. https://www.hereditarybonejointdiseases.nl/. Accessed April 2, 2022.
- Testing for Genes Related to Osteopetrosis. National Center for Biotechnology Information (NCBI). https://www.ncbi.nlm.nih.gov/books/NBK2592/. Accessed April 2, 2022.
- TNFRSF11A gene – Genetics Home Reference – NIH. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/gene/TNFRSF11A. Accessed April 2, 2022.