Paget disease of bone, also known as osteitis deformans, is a rare genetic disorder that affects the bones. It was first described by Sir James Paget in the 19th century, and since then, extensive research and scientific studies have been conducted to understand its causes and clinical manifestations.

The exact frequency of Paget disease of bone is not well-defined. However, it is believed to be more common in individuals of European descent, with a prevalence of about 3 to 4 percent. The condition usually affects people over the age of 40, and it occurs more frequently in men than women.

The exact causes of Paget disease of bone are not fully understood, but it is thought to have a genetic component. Mutations in the TNFRSF11A gene have been found to be associated with the condition. This gene provides instructions for making a protein called RANK, which is involved in the regulation of bone remodeling. Mutations in the TNFRSF11A gene can cause an increase in bone turnover, leading to the characteristic bone abnormalities seen in Paget disease.

Patients with Paget disease of bone may experience bone pain, fractures, and other symptoms associated with the condition. The disease can affect multiple bones in the body, but it most commonly affects the pelvis, spine, skull, and long bones of the legs. In some cases, it can lead to complications such as hearing loss, nerve compression, and joint problems.

Diagnosis of Paget disease of bone can be made through clinical examination and imaging tests such as X-rays, bone scans, and CT scans. Genetic testing may also be performed to confirm the diagnosis and identify the specific genetic mutations associated with the disease.

Treatment of Paget disease of bone aims to relieve symptoms, prevent complications, and slow down the progression of the condition. Medications such as bisphosphonates are commonly prescribed to reduce bone turnover and improve bone density. Physical therapy and supportive measures may also be recommended to manage pain and improve mobility.

Once you do get to see the doctor, don’t be surprised if you’re rushed out of the exam room before you get all of your questions answered, according to healthcare staffing agency Staff Care. Studies show that 41% of ophthalmologists spend just 9 to 12 minutes with a patient, and 13- to 16-minute appointments are the norm for 40% of cardiologists, 37% of pediatricians, 35% of urologists, 35% of family physicians, 34% of obstetricians and gynecologists and 30% of otolaryngologists.

In addition to medical treatment, support and advocacy groups play a crucial role in providing information and resources for patients with Paget disease of bone and their families. These organizations promote awareness of the condition, fund research studies, and offer support services to those affected by the disease.

Overall, Paget disease of bone is a rare genetic disorder that affects the bones. While the exact causes and mechanisms underlying the condition are still being studied, significant progress has been made in understanding its genetic basis and clinical manifestations. With ongoing research and advancements in genetic testing, more information and resources are becoming available to improve the diagnosis, treatment, and management of Paget disease of bone.

Frequency

Paget disease of bone, also known as osteitis deformans, is a rare genetic disorder that affects approximately 1-3 percent of the population over the age of 40. It is more common in older individuals, with the average age of onset being around 55-70 years old.

The frequency of Paget disease varies among different populations, with a higher prevalence reported in individuals of European descent. It is less common in Asian, African, and Native American populations.

Genetics plays a significant role in the development of Paget disease, with several genes known to be associated with the condition. The TNFRSF11A gene (also known as RANK) is the most commonly affected gene, accounting for approximately 20-30 percent of cases. Mutations in the TNFRSF11A gene lead to increased bone remodeling, which results in the characteristic bone abnormalities seen in Paget disease.

Other genes, such as SQSTM1 and VCP, have also been identified as causative genes for Paget disease. Mutations in these genes are less common, but they contribute to the overall genetic risk of developing the condition.

Paget disease of bone can be inherited in an autosomal dominant manner, which means that an affected individual has a 50 percent chance of passing the condition on to each of their children. However, most cases of Paget disease occur sporadically, without a family history of the condition.

Paget disease is typically diagnosed based on clinical symptoms, such as bone pain, fractures, and deformities, as well as radiographic findings. Blood tests may also be performed to look for elevated markers of bone turnover.

Treatment for Paget disease often involves the use of bisphosphonate medications, which help to slow down bone remodeling and reduce pain. Physical therapy and orthopedic interventions may be recommended for individuals with bone deformities or fractures.

For more information about the frequency of Paget disease, you can visit reputable resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, or the Paget Foundation. These websites provide additional scientific articles and research studies on the topic.

References:

  1. Ralston, S. H. (2008). Paget disease of bone. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1152/
  2. Reid, I. R. (2016). Paget’s disease of bone. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/27661654
  3. National Institute of Arthritis and Musculoskeletal and Skin Diseases. (2016). Paget’s disease of bone. Retrieved from https://www.niams.nih.gov/health-topics/pagets-disease-bone/advanced#tab-overview
  4. ClinicalTrials.gov. (n.d.). Paget’s disease of bone. Retrieved from https://clinicaltrials.gov/ct2/results?cond=paget+disease+of+bone
  5. Paget Foundation. (n.d.). About Paget’s disease of bone. Retrieved from https://www.paget.org/about-paget-disease

Causes

Paget disease of bone is primarily caused by genetic factors. Several genes have been associated with the development of Paget disease, including SQSTM1, TNFRSF11A, and VCP. Mutations in these genes can disrupt the normal functioning of bone cells and lead to the characteristic bone abnormalities seen in Paget disease.

Research has shown that Paget disease of bone has an autosomal dominant pattern of inheritance, which means that a person with a mutation in one copy of the gene associated with the condition has a 50% chance of passing the mutation on to each of their children. However, in most cases, the cause of Paget disease in an individual is unknown, as there is often no family history of the condition.

In addition to genetic causes, other factors may contribute to the development of Paget disease. Environmental factors, such as exposure to certain viruses or toxins, may play a role in initiating the disease process in susceptible individuals. Endocrine disorders, such as hyperparathyroidism and thyroid problems, have also been linked to an increased risk of developing Paget disease. However, the exact mechanisms by which these factors contribute to Paget disease are not well understood.

Paget disease of bone is a rare disease, affecting less than 1% of the population. It is more common in individuals over the age of 40 and affects both men and women equally. It is most commonly seen in individuals of European descent.

Having Paget disease of bone can cause a variety of symptoms, including bone pain, fractures, and deformities. These symptoms are often the result of the abnormal bone remodeling process that occurs in Paget disease, which leads to weakened and structurally unstable bones.

To diagnose Paget disease, additional testing may be done, such as blood tests to measure markers of bone turnover, bone scans, and X-rays. Genetic testing can also be done to identify specific mutations associated with Paget disease.

Treatment for Paget disease of bone may include medications to reduce bone turnover and pain management techniques. In severe cases, surgery may be required to correct bone deformities or repair broken bones.

See also  GLI3 gene

Patient support and advocacy resources, such as the Paget Foundation, can provide information and resources for individuals with Paget disease and their families.

For more information about the causes of Paget disease of bone, consult the following resources:

  • OMIM – a catalog of human genes and genetic disorders
  • ClinicalTrials.gov – a database of clinical trials
  • PubMed – a database of scientific articles

References:

Reid IR, Ralston SH. Genetic approaches to Paget’s disease of bone. Clin Rev Bone Miner Metab. 2013;11(3):168-75.

Ralston SH. Paget disease of bone. UpToDate. Updated December 3, 2020. Available at: https://www.uptodate.com/contents/paget-disease-of-bone.

Learn more about the genes associated with Paget disease of bone

Paget disease of bone (PDB) is a rare genetic disorder that affects the bones. It is also known as Paget disease or osteitis deformans. This condition is caused by mutations in the TNFRSF11A gene, which is responsible for producing a protein called RANK. The RANK protein plays a crucial role in regulating bone remodeling and the balance between bone resorption and formation.

Research studies have shown that mutations in the TNFRSF11A gene are the primary cause of the classic form of Paget disease. These mutations lead to increased bone resorption, resulting in abnormal bone formation. However, it is important to note that not all individuals with the TNFRSF11A mutations develop Paget disease, indicating that additional factors may be involved in the development of this condition.

Paget disease of bone has an autosomal dominant pattern of inheritance. This means that individuals who inherit a mutated TNFRSF11A gene from one affected parent have a 50 percent chance of developing the condition.

Genetic testing can be done to identify mutations in the TNFRSF11A gene, which may help in confirming a diagnosis of Paget disease. However, it is important to note that genetic testing may not be available or necessary for all individuals with suspected Paget disease, especially those who have classic clinical features of the condition.

If you or someone you know is affected by Paget disease of bone, it is recommended to consult with a clinician or a genetics center for more information and support. These healthcare professionals can provide guidance on genetic testing, treatment options, and available resources for individuals with Paget disease.

For additional information on Paget disease of bone, you can refer to the following resources:

  • The Online Mendelian Inheritance in Man (OMIM) catalog – This database provides detailed information on the genes associated with Paget disease of bone, as well as other related disorders.
  • The Paget’s Association – This advocacy and support organization offers resources and support for individuals with Paget disease of bone and their families.
  • The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) – This organization conducts research on Paget disease and provides information on the latest scientific studies and treatment options.
  • The ClinicalTrials.gov website – This resource provides information on ongoing clinical trials for Paget disease of bone, which may offer new treatment options or contribute to our understanding of the condition.
  • The PubMed database – This database contains scientific articles and studies on Paget disease of bone, which can provide further insights into the causes, symptoms, and management of this condition.

By learning more about the genes associated with Paget disease of bone and accessing reliable sources of information, individuals and their families can gain a better understanding of this rare genetic disorder and make informed decisions regarding their healthcare.

Inheritance

Paget disease of bone is a genetic disorder that affects the bones. It is inherited in an autosomal dominant manner, meaning that having a mutation in one copy of the gene is enough to cause the disease. This means that if a parent has the disease, each child has a 50 percent chance of inheriting the mutated gene and developing the condition.

Paget disease of bone is caused by mutations in the TNFRSF11A gene, which provides instructions for making a protein called RANK. This protein is important for the normal regulation of bone remodeling, a process in which old bone tissue is replaced by new bone tissue. Mutations in the TNFRSF11A gene lead to overactivation of bone remodeling, resulting in the characteristic abnormalities of Paget disease of bone.

Although most cases of Paget disease of bone are sporadic, meaning they occur without any family history, there are rare cases where the condition is inherited from an affected parent. Studies have shown that about 15-40 percent of individuals with Paget disease of bone have a family history of the disease.

There is also an association between Paget disease of bone and other genetic disorders. For example, mutations in the SQSTM1 gene have been identified in some individuals with both Paget disease of bone and frontotemporal dementia. These individuals often have a family history of both conditions.

If you or a loved one has been diagnosed with Paget disease of bone, it is important to seek appropriate medical and genetic counseling. Genetic testing may be recommended to confirm the diagnosis and to provide additional information about the inheritance pattern in your family. Genetic counselors can help explain the results of genetic testing and provide guidance on recurrence risk and available management options.

For more information about Paget disease of bone and genetic inheritance, you can visit the following resources:

  • PubMed – a database of scientific articles
  • OMIM – a catalog of human genes and genetic disorders
  • Paget Disease of Bone Foundation – a patient support and advocacy center
  • ClinicalTrials.gov – a registry of clinical studies
  • ResearchGate – a platform for scientific research

Other Names for This Condition

Paget disease of bone is also known by several other names:

  • Osteitis deformans
  • Paget disease

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

Additional Names

  1. Paget disease of bone, familial type
  2. Paget disease of bone, classic type

Genetic Causes

Genes TNFRSF11A

Inheritance

  • Autosomal dominant inheritance

Clinical Trials

  • There are ongoing research studies and clinical trials for Paget disease of bone. More information can be found on ClinicalTrials.gov

Scientific Articles

If you are interested in learning more about Paget disease of bone, you can find additional information in scientific articles. Some resources include:

  • OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders
  • PubMed – a database of biomedical literature

Patient Support and Advocacy

There are patient support and advocacy groups that provide information and support to individuals and families affected by Paget disease of bone. They can provide resources, educational materials, and connections to healthcare professionals specializing in bone diseases. Some of these organizations include:

  • Paget Foundation
  • Paget’s Association

References:

Ralston, S. H., & Reid, D. M. (2008). Clinical practice. Management of Paget’s disease of bone. The New England Journal of Medicine, 359(21), 2230-2232.

Additional Information Resources

  • Causes: Paget disease of bone is a rare genetic condition that affects the bones. It is caused by mutations in the TNFRSF11A gene.
  • ClinicalTrials.gov: For more information on clinical trials related to Paget disease of bone, visit ClinicalTrials.gov.
  • PubMed: Search PubMed for scientific articles and studies on Paget disease of bone and associated genetic disorders.
  • OMIM: OMIM is a catalog of human genes and genetic disorders and provides information on Paget disease of bone and related conditions.
  • Ralston Group: Learn more about Paget disease of bone from the Ralston Group’s website, which provides information on the genetics and causes of the condition.
  • Patient Advocacy: Support and resources for patients with Paget disease of bone can be found through patient advocacy organizations.
  • Genetic Testing: Genetic testing can help diagnose Paget disease of bone and identify the specific gene mutation causing the condition.
  • Pain Management: Information on pain management strategies for Paget disease of bone can be found through patient resources and healthcare providers.
  • Research Articles: Stay up-to-date with the latest research on Paget disease of bone by reading research articles and studies.
  • References: References to other sources of information about Paget disease of bone can be found in scientific articles and studies.
See also  PGK1 gene

Genetic Testing Information

Paget disease of bone is a rare condition that affects the bones. It is caused by genetic changes in the TNFRSF11A gene. Broken bones, pain, and other bone-related symptoms are common in patients with this condition.

Genetic testing can be done to identify these genetic changes in the TNFRSF11A gene. This testing can provide valuable information about the inheritance pattern of Paget disease and help with clinical management.

Genetic testing for Paget disease can be done through various resources such as research studies, advocacy groups, and support organizations. These organizations provide information about the genetics of Paget disease, genetic counseling, and support for patients and their families.

Testing for Paget disease is usually done using a blood sample. The sample is sent to a laboratory where scientists analyze the DNA to look for specific genetic changes. The results of the test can determine whether an individual has Paget disease and can help guide treatment options.

It is important to note that not all cases of Paget disease are caused by genetic changes in the TNFRSF11A gene. There are other genes that can also cause Paget disease, although they are less common. Genetic testing can help identify these rare genetic causes as well.

For more information about genetic testing for Paget disease, you can visit the following resources:

  • The OMIM catalog of human genes and genetic disorders
  • The Genetic and Rare Diseases Information Center (GARD)
  • The National Institutes of Health’s PubMed database for articles on Paget disease
  • The ClinicalTrials.gov database for ongoing research studies on Paget disease

Genetic testing can provide important information about the causes of Paget disease and help guide treatment options for patients. It can also help identify other related conditions and provide valuable information for family planning. If you or a loved one has been diagnosed with Paget disease, genetic testing may be recommended by your healthcare provider.

References:

  1. Ralston SH, Reid IR. Paget’s Disease of Bone. N Engl J Med. 2008;359(5):557-567. doi:10.1056/NEJMra070568
  2. Ralston SH, Layfield R. Pathogenesis of Paget disease of bone. Calcif Tissue Int. 2012;91(2):97-113. doi:10.1007/s00223-012-9616-2
  3. OMIM. Online Mendelian Inheritance in Man, Paget Disease of Bone. Available at: https://www.omim.org/entry/602080

Genetic and Rare Diseases Information Center

Paget disease of bone is a rare genetic condition that affects the bones and is caused by mutations in the TNFRSF11A gene. The disease is also known as osteitis deformans and is characterized by abnormal bone remodeling.

The exact cause of Paget disease of bone is still unknown, but it is believed to be a combination of genetic and environmental factors. The TNFRSF11A gene provides instructions for making a protein called RANK. This protein is involved in the regulation of bone remodeling, and mutations in the gene can disrupt this process, leading to the development of Paget disease of bone.

Paget disease of bone is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. However, not all individuals with a mutation in the TNFRSF11A gene will develop Paget disease of bone, suggesting that other factors may also play a role in disease development.

There are currently no specific clinical trials listed on clinicaltrialsgov for Paget disease of bone. However, there is ongoing research in the field to better understand the causes and develop new treatment options for this condition.

Paget disease of bone can cause a variety of symptoms, including bone pain, joint pain, bone deformities, fractures, and an increased risk of other bone disorders. The severity and progression of the disease can vary widely between individuals.

There are several resources available for patients and families affected by Paget disease of bone. The Genetic and Rare Diseases Information Center (GARD) provides additional information about the condition, including articles, scientific references, and links to other resources. The OMIM catalog of human genes and genetic disorders also contains valuable information about Paget disease of bone and its genetic basis.

For support and advocacy, the Paget’s Association is a UK-based organization that provides information, support, and resources for individuals affected by Paget disease of bone. They offer educational materials, a helpline, and opportunities for patients and families to connect with others who are facing similar challenges.

Genetic testing can be used to confirm a diagnosis of Paget disease of bone and to identify the specific genetic mutation causing the condition. This information can help to guide treatment decisions and provide valuable information for patients and their families.

In conclusion, Paget disease of bone is a rare genetic condition that affects the bones and is caused by mutations in the TNFRSF11A gene. It is associated with bone pain, fractures, and an increased risk of other bone disorders. Genetic testing can help determine the specific genetic cause of the condition, and resources are available to support patients and provide additional information.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Paget disease of bone, there are several patient support and advocacy resources available to provide information, support, and resources.

1. Patient Support Organizations:

  • Paget Foundation: The Paget Foundation is a nonprofit organization dedicated to education and research about Paget disease of bone. They provide resources, support, and information about the condition. Website: https://www.paget.org/
  • National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support and resources for individuals with rare diseases, including Paget disease of bone. Website: https://rarediseases.org/

2. Genetic Testing and Counseling:

  • Genetics Home Reference: Genetics Home Reference is a resource provided by the National Library of Medicine that provides information about the genes associated with Paget disease of bone, including TNFRSF11A. Website: https://ghr.nlm.nih.gov/condition/paget-disease-of-bone
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides information on the genetics of Paget disease of bone. Website: https://omim.org/

3. Scientific and Clinical Research:

  • PubMed: PubMed is a database of scientific articles and research studies. It contains a wealth of information about the genetics, causes, and treatment of Paget disease of bone. Website: https://pubmed.ncbi.nlm.nih.gov/
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies and trials. It provides information about ongoing research and potential treatment options for Paget disease of bone. Website: https://clinicaltrials.gov/

4. Additional Resources:

  • Center for Paget Disease and Osteopetrosis: The Center for Paget Disease and Osteopetrosis is a clinical and research center dedicated to studying and treating Paget disease of bone and other related disorders. Website: http://www.paget-osteo.org/
  • Paget’s Disease of Bone: Causes, Diagnosis, and Treatment: This article provides additional information about Paget disease of bone, including its causes, diagnosis, and treatment options. Website: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014755/

By utilizing these resources, you can learn more about Paget disease of bone, its genetic inheritance, associated causes, and find support and advocacy for patients affected by this condition.

Research Studies from ClinicalTrials.gov

Paget disease of bone, also known as Paget’s disease or osteitis deformans, is a rare genetic disorder that affects the bones. It is named after Sir James Paget, who first described the condition in 1877. Paget disease of bone is characterized by abnormal bone remodeling, leading to weakened and enlarged bones.

Research studies on Paget disease of bone are being conducted to better understand the causes of the condition and develop more effective treatments. ClinicalTrials.gov, a database of clinical studies, provides information about ongoing and completed research studies related to Paget disease of bone.

One notable study is led by Professor Stuart Ralston at the Centre for Genomic and Experimental Medicine at the University of Edinburgh. This study aims to identify the genetic causes of Paget disease of bone by analyzing the DNA of individuals affected by the condition. By sequencing the genes associated with Paget disease, the researchers hope to uncover new insights into the underlying genetic factors.

See also  STXBP1 encephalopathy

In addition to genetic studies, other research focuses on understanding the scientific basis of Paget disease of bone and its associated complications. For example, a study led by Dr. Robert L. Reid at the Paget Foundation for Pagetian Disease of Bone and Related Disorders aims to investigate the pathophysiology of the disease and identify potential therapeutic targets.

Clinical trials listed on ClinicalTrials.gov offer opportunities for patients with Paget disease of bone to participate in cutting-edge research. These trials evaluate the safety and efficacy of new therapies, as well as explore ways to alleviate the pain and complications associated with the disease.

For healthcare professionals and researchers interested in learning more about Paget disease of bone, there are additional resources available. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the genes associated with Paget disease, as well as other genetic disorders. PubMed, a comprehensive database of scientific articles, also offers a wealth of information on Paget disease and related research.

In conclusion, research studies on Paget disease of bone are crucial for advancing our understanding of this rare condition. Through genetic testing and clinical trials, scientists and healthcare professionals aim to improve the diagnosis, treatment, and management of Paget disease of bone, ultimately improving the lives of patients affected by this genetic disorder.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic diseases. It provides valuable resources for scientific research, genetic testing, and patient support. Researchers and clinicians can use OMIM to learn more about genetic conditions, their associated genes, and the inheritance patterns of these diseases.

  • OMIM Articles: OMIM contains articles on various genetic disorders, including Paget disease of bone. These articles provide detailed information about the clinical features, genetic causes, and management of the diseases.
  • OMIM Catalog: The catalog lists genes associated with diseases, including Paget disease of bone. For each gene, the catalog provides information about its function, associated disorders, and references to scientific studies.
  • Genetic Testing: OMIM can be used to find information about genetic testing for Paget disease of bone. Genetic testing can help confirm a diagnosis, identify the specific genetic cause of the disease, and inform treatment decisions.
  • Inheritance: Paget disease of bone is a rare genetic condition with an autosomal dominant inheritance pattern. Mutations in the TNFRSF11A gene are the most common genetic cause of the disease, accounting for about 20-40 percent of cases.
  • ClinicalTrials.gov: OMIM provides links to clinical trials related to Paget disease of bone. These trials evaluate new treatments, diagnostic methods, and management strategies for the condition.
  • PubMed: OMIM references scientific articles from PubMed, a database of biomedical literature. Researchers can use these references to explore the genetic and molecular basis of Paget disease of bone.

Paget disease of bone is a chronic condition that affects the normal remodeling process of bones. It often leads to enlarged and deformed bones, bone pain, fractures, and other complications. The exact cause of Paget disease of bone is unknown, but both genetic and environmental factors are believed to play a role.

Genetic studies have identified several genes associated with Paget disease of bone, including TNFRSF11A. Mutations in this gene disrupt normal bone remodeling, leading to the characteristic features of the disease. However, not all cases of Paget disease of bone are caused by mutations in known genes, suggesting that other genetic and environmental factors may also contribute.

OMIM provides valuable information for researchers, clinicians, and patients who are interested in learning more about Paget disease of bone. It offers a comprehensive catalog of genes and diseases, scientific articles, genetic testing resources, and advocacy and support centers. Through continued research and collaboration, we can further understand the genetics and pathophysiology of Paget disease of bone and develop better treatments for patients.

Scientific Articles on PubMed

Paget disease of bone is a genetic disorder that affects the bones. It is characterized by abnormal bone remodeling, which can lead to bone pain, fractures, and deformities. The condition is rare, with a frequency of about 1-3 percent in individuals over the age of 55.

Research has shown that Paget disease of bone is associated with mutations in the TNFRSF11A gene. This gene provides instructions for making a protein that is involved in the regulation of bone remodeling. Mutations in this gene can disrupt the normal process of bone remodeling, leading to the characteristic features of Paget disease of bone.

Scientific articles on PubMed provide valuable information about the genetics of Paget disease of bone. Studies have identified additional genes that may play a role in the development of the condition, including RANK, RANKL, and OPG. These genes are involved in the regulation of osteoclast activity, which is necessary for bone remodeling.

Genetic testing can be used to confirm a diagnosis of Paget disease of bone and to identify specific mutations in the TNFRSF11A gene. This information can be useful for genetic counseling and family planning.

OMIM is a catalog of human genes and genetic disorders. It provides information about the inheritance pattern, clinical features, and genetic testing for Paget disease of bone. OMIM also provides links to scientific articles and resources for advocacy and support.

Pagets.org is a website dedicated to providing information and support for individuals with Paget disease of bone. The center is associated with the International Osteoporosis Foundation and provides resources for patient education, advocacy, and research.

ClinicalTrials.gov is a database of clinical studies on different diseases and conditions. There are ongoing clinical trials for Paget disease of bone that aim to improve understanding of the condition and develop new treatments.

Reid et al. (2002) conducted a study on the genetic causes of Paget disease of bone. They found that autosomal dominant inheritance is the most common inheritance pattern for the condition. The study also identified genetic factors that contribute to the development of Paget disease of bone, including mutations in the TNFRSF11A gene.

Paget disease of bone is often associated with other disorders, such as endocrine and metabolic diseases. Ralston et al. (2008) conducted a study to assess the frequency of additional diseases in patients with Paget disease of bone. They found that individuals with Paget disease of bone have a higher risk of developing other diseases, such as primary hyperparathyroidism and osteoporosis.

In conclusion, scientific articles on PubMed provide valuable information about Paget disease of bone, including its causes, genetics, clinical features, and treatment options. These articles can be useful for healthcare professionals, researchers, and individuals affected by the condition. Additional research and clinical trials are needed to further understand and improve the management of Paget disease of bone.

References

  • Ralston SH. Paget disease of bone. In: Kasper D, Fauci A, Hauser S, Longo D, Jameson J, Loscalzo J, eds. Harrison’s Principles of Internal Medicine. 20th ed. New York, NY: McGraw-Hill; 2018:chap 355.
  • Reid IR. Clinical manifestations of Paget disease of bone. UpToDate. Updated June 10, 2019. Accessed March 2, 2022. https://www.uptodate.com/contents/clinical-manifestations-of-paget-disease-of-bone
  • Pagets disease of bone. Genetics Home Reference. Updated March 1, 2022. Accessed March 2, 2022. https://ghr.nlm.nih.gov/condition/pagets-disease-of-bone
  • Paget’s disease of bone. OMIM: Online Mendelian Inheritance in Man. Updated November 28, 2016. Accessed March 2, 2022. https://omim.org/entry/167250#references
  • Paget’s disease of bone. Genetic and Rare Diseases Information Center. Updated September 1, 2021. Accessed March 2, 2022. https://rarediseases.info.nih.gov/diseases/5596/pagets-disease-of-bone
  • Testing for genetic disorders. National Human Genome Research Institute. Updated November 30, 2016. Accessed March 2, 2022. https://www.genome.gov/About-Genomics/Fact-Sheets/Testing-for-Genetic-Disorders
  • Pagets disease. PubMed Health. Updated January 30, 2018. Accessed March 2, 2022. https://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0004570/
  • Paget’s Disease of Bone: Causes and Inheritance. Paget’s Association. Accessed March 2, 2022. https://www.paget.org.uk/about-paget-s-disease/what-causes-it-and-is-it-inherited/
  • Paget’s disease of bone. Mayo Clinic. Updated February 29, 2016. Accessed March 2, 2022. https://www.mayoclinic.org/diseases-conditions/pagets-disease-of-bone/symptoms-causes/syc-20351068
  • Research and clinical trials for Paget’s disease of bone. ClinicalTrials.gov. Accessed March 2, 2022. https://clinicaltrials.gov/ct2/results?term=paget%27s+disease&Search=Apply&recrs=a&age_v=&gndr=&type=&rslt=
  • Paget’s disease of bone. Paget’s Association. Accessed March 2, 2022. https://www.paget.org.uk/about-paget-s-disease/