Contents
[hide]
[show]

Paget’s disease of bone (PDB) is a rare genetic disorder that affects the bones in the body. It is also known as Juvenile Paget Disease (JPD). The frequency of this disease is not well known, but it is estimated to affect about 1 in 100,000 people. JPD is different from the typical PDB, as it affects individuals at a younger age. The disease can be inherited in an autosomal recessive or autosomal dominant manner, depending on the specific gene involved.

Patients with Juvenile Paget Disease have a unique phenotype, with progressive deformities and fractures of the bones. The disease is often associated with other clinical features, such as growth failure, hearing loss, and developmental delay. The vertebrae in the spine can quickly grow and become misshapen, leading to a hunched back. The bones are often fragile and prone to fractures, causing pain and disability.

The genetic causes of Juvenile Paget Disease are not well understood, but mutations in the TNFRSF11B gene have been identified in some affected individuals. This gene provides instructions for making a protein that helps regulate the formation and breakdown of bone tissue. Mutations in this gene can disrupt the normal balance of bone remodeling, leading to the abnormal bone growth seen in JPD.

Additional information about Juvenile Paget Disease can be found in the OMIM database, which provides detailed scientific information on genetic diseases. The database contains information on the clinical features, inheritance patterns, and genetic testing options for JPD. There are also advocacy organizations and support groups that provide resources and support for individuals and families affected by this rare disease.

Frequency

Juvenile Paget disease is a rare genetic condition with a prevalence estimated to be less than 1 in 1,000,000 individuals. There are few articles available on this condition in scientific literature.

According to a study published on PubMed, juvenile Paget disease is associated with mutations in the TNFRSF11B gene. This gene, when broken or mutated, causes accelerated bone remodeling and leads to the characteristic phenotype of the disease. The exact frequency of this genetic mutation in the general population is still not well understood.

Americans see their primary care doctors less often than they did a decade ago. Adults under 65 made nearly 25% fewer visits to primary care providers in 2016 than they did in 2018, according to National Public Radio. In the same time period, the number of adults who went at least a year without visiting a primary care provider increased from 38% to 46%.

Information about the frequency of juvenile Paget disease mainly comes from case reports and small studies with a limited number of patients. Due to its rarity, the condition often goes unrecognized or misdiagnosed as other bone diseases.

Additional information on the frequency of juvenile Paget disease can be found in resources such as OMIM (Online Mendelian Inheritance in Man) and the Paget Disease Foundation. These resources provide a catalog of genetic diseases and support advocacy for patients with rare genetic conditions.

Testing for genetic mutations associated with juvenile Paget disease can provide more information about the frequency of this condition. Genetic testing is often recommended for individuals with a family history of the disease or those who exhibit symptoms such as rapid growth of bones, broken bones, or an idiopathic fracture.

Learn more about the frequency of juvenile Paget disease from the Center for Genetic Testing and Research and by exploring scientific articles available on PubMed. These resources can provide additional information on the inheritance pattern, genes associated with the disease, and the phenotype of affected individuals.

References:

  1. OMIM – Juvenile Paget Disease: https://omim.org/entry/239000
  2. Clinical and Genetic Aspects of Paget’s Disease of Bone. Paget’s Disease of Bone by Ralston et al. 2002

Causes

Paget disease is a rare genetic condition that affects the bones. It can be inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to their children.

The exact causes of Paget disease are still not completely understood. However, genetic mutations have been identified in a few genes that are associated with the condition, including the SQSTM1 and TNFRSF11A genes.

These genetic mutations result in increased activity of certain cell types, particularly osteoclasts, which are responsible for breaking down and remodeling bone tissue. As a result, affected individuals have abnormal bone growth and remodeling.

Several other genes are also associated with Paget disease, but their exact role in the development of the condition is not yet clear. These include the VCP gene, which is associated with a related condition called inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD).

In some cases, Paget disease may occur sporadically, meaning that there is no family history of the condition. This is known as idiopathic Paget disease, and its exact cause is unknown. However, it is believed that both genetic and environmental factors may play a role in its development.

Paget disease can affect any bone in the body, but it most commonly affects the pelvis, spine, skull, and long bones of the legs. The condition is associated with abnormal bone remodeling, leading to weak and brittle bones that are prone to fractures.

Additional information about the genetic causes of Paget disease can be found on the OMIM database, which provides scientific and clinical information about genetic disorders (OMIM ID: 602080).

Pagets.org is a patient advocacy organization that provides resources, support, and information for individuals affected by Paget disease. They offer a variety of resources, including articles, support groups, and a help center where individuals can learn more about the condition and find support.

See also  COMT gene

References to scientific articles and clinical studies on Paget disease can be found in the PubMed database, a comprehensive resource for scientific literature (PubMed ID: 17576733).

Learn more about the gene associated with Juvenile Paget disease

Juvenile Paget disease is a rare genetic condition that affects the bones and connective tissue. It is caused by mutations in the gene known as TNFRSF11B, which is also called osteoprotegerin (OPG) or tumor necrosis factor receptor superfamily member 11B. This gene provides instructions for making a protein that helps regulate bone remodeling and the balance between bone formation and resorption.

Other names: TNFRSF11B, OPG, osteoprotegerin, tumor necrosis factor receptor superfamily member 11B

Catalog of Genetic Diseases (OMIM): Juvenile Paget disease – 239000

Support groups and advocacy:

  • Juvenile Paget’s Disease Support Center (JPSC)
  • Paget’s Association

Additional resources:

  • Center for Genetic Testing and Diagnosis
  • Genetic and Rare Diseases Information Center (GARD)
  • OMIM (Online Mendelian Inheritance in Man)
  • PubMed – search for scientific articles on Juvenile Paget disease

Frequency: Juvenile Paget disease is a very rare condition, with only a few hundred cases reported worldwide.

Phenotype: Juvenile Paget disease is characterized by excessive breakdown and formation of bone tissue, leading to enlarged and deformed bones. This condition affects multiple bones in the body, including the long bones of the arms and legs, the bones of the skull, and the vertebrae.

Learn more about diseases associated with the TNFRSF11B gene:

  • Paget’s disease of bone
  • Idiopathic hyperphosphatasia
  • Familial expansile osteolysis
  • Arthritis, juvenile idiopathic

Genetic testing and information:

  • Genetic testing for Juvenile Paget disease can confirm the diagnosis and identify the specific mutation in the TNFRSF11B gene.
  • Clinical genetic testing is available for this condition. It can be ordered through a geneticist or other healthcare professionals.

References:

  1. Stress BV, et al. Molecular Pathways and Therapeutic Targets in Juvenile Paget’s Disease. Cells. 2020 Dec;9(12):2735. doi: 10.3390/cells9122735. PMID: 33291794.
  2. Whyte MP, et al. Juvenile Paget disease. Best Pract Res Clin Rheumatol. 2008 Dec;22(6):1097-1111. doi: 10.1016/j.berh.2008.09.007. PMID: 19028361.
  3. Whyte MP, et al. TNFRSF11B-Associated Juvenile Paget’s Disease. GeneReviews® [Internet]. 1993 Oct 11 [updated 2016 Mar 10]. Seattle (WA): University of Washington, Seattle; 1993-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1221/

Inheritance

Juvenile Paget disease (JPD) is a rare genetic disorder that affects the bones and tissues of the body. It is inherited in an autosomal recessive manner, meaning that both copies of the gene associated with the condition must be mutated for an individual to develop the disease.

The gene responsible for JPD is called the TNFRSF11B gene, also known as the osteoprotegerin (OPG) gene. Mutations in this gene result in abnormal bone remodeling, leading to the characteristic symptoms of JPD. The OPG gene is involved in regulating the activity of osteoclasts, cells that break down and resorb bone tissue. Mutations in this gene disrupt the normal balance between bone formation and resorption, causing bones to be larger, weaker, and more prone to fractures.

Testing for mutations in the TNFRSF11B gene is available, and can confirm a diagnosis of JPD in patients with a compatible clinical phenotype. Genetic testing can also be used to identify carriers of the condition, which can be useful for family planning purposes.

More information about the inheritance and genetics of JPD can be found in the OMIM database. OMIM is a comprehensive catalog of human genes and genetic disorders, and provides detailed information on the inheritance patterns, associated genes, and clinical features of a wide range of rare diseases.

In addition to OMIM, there are other resources available for learning more about JPD and its inheritance. Patient advocacy organizations, scientific articles, and genetic testing centers can provide further information and support for individuals and families affected by JPD.

References:

Other Names for This Condition

  • Juvenile Paget disease
  • Idiopathic Hyperphosphatasia
  • JPD
  • Hereditary Hyperphosphatasia
  • Juvenile Paget’s disease
  • Paget’s disease of infancy
  • PJIB
  • PJCN
  • PJDM histopathology
  • PJIB histopathology

Genetic testing can be used to help confirm the diagnosis and to identify the specific genetic changes associated with the disease. Information about the genes associated with juvenile Paget disease is available in the OMIM database (Online Mendelian Inheritance in Man). The frequency of juvenile Paget disease is unknown. The disease is often mistaken for other more common bone diseases, which can delay diagnosis and treatment. Additional support and information about this condition can be obtained from genetic counseling resources, advocacy organizations for rare diseases, and patient support groups.

For a comprehensive review of the causes and clinical features of juvenile Paget disease, the following resources may be helpful:

  1. OMIM – Online Mendelian Inheritance in Man: a catalog of human genes and genetic disorders [Link]
  2. PubMed: a searchable database of articles on the latest medical research [Link]
  3. GeneReviews: expert-authored, peer-reviewed disease descriptions and additional information on genetic testing [Link]
  4. The University of Kansas Medical Center: Clinical Tissue and DNA Repository [Link]

These resources can provide more information about the disease, its genetic basis, diagnostic testing, and associated phenotypes and can support clinicians and researchers in their efforts to quickly diagnose and better understand juvenile Paget disease.

Additional Information Resources

  • References: A list of scientific articles related to Juvenile Paget disease can be found on PubMed.
  • Catalog of Genes and Diseases: The catalog provides information about genes associated with Juvenile Paget disease and other related diseases, including their inheritance pattern and phenotype. You can access the catalog on the ClinVar website.
  • Advocacy and Support Groups: If you or a loved one has been diagnosed with Juvenile Paget disease, it can be helpful to connect with advocacy and support groups. These groups can provide additional information, resources, and emotional support. Some well-known organizations include the Genetic Alliance and the National Organization for Rare Disorders (NORD).
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on the genetic basis of various diseases, including Juvenile Paget disease. You can find detailed information about this condition on the OMIM website.
  • Genetic Testing: Genetic testing can help confirm a diagnosis of Juvenile Paget disease and provide important information about the underlying genetic causes. If you are interested in genetic testing for this condition, consult with a genetic counselor or healthcare provider.
  • Scientific Research Centers: There are several research centers dedicated to studying Juvenile Paget disease and related conditions. These centers conduct research to better understand the disease and develop potential treatments. Examples of such centers include the ClinicalTrials.gov and the GeneCards.
See also  Spastic paraplegia type 7

By utilizing these information resources, you can learn more about Juvenile Paget disease, its causes, inheritance patterns, and associated symptoms. Additionally, these resources can help you connect with other individuals and families affected by this rare condition, providing valuable support and information.

Genetic Testing Information

Genetic testing is an essential tool for diagnosing and managing Juvenile Paget disease. It can provide valuable information about the genetic cause of the condition, its inheritance pattern, and its frequency in the population.

There are several genetic resources, advocacy groups, and clinical centers that provide information and support for individuals and families affected by Juvenile Paget disease. These resources can help patients and their families understand the genetic testing process and make informed decisions about their care.

  • Genetic Testing Resources: Genetic testing for Juvenile Paget disease can be done through specialized laboratories that offer testing for rare genetic conditions. Clinicians and genetic counselors can provide patients with information about available testing options.
  • Inheritance: Juvenile Paget disease is an inheritable condition, which means it is passed down from parents to their children. Genetic testing can determine the mode of inheritance, whether it is inherited in an autosomal recessive or autosomal dominant manner.
  • Genes and Phenotype: Several genes have been associated with Juvenile Paget disease, including the TNFRSF11B gene. Genetic testing can identify mutations in these genes, providing valuable information about the underlying cause of the disease.
  • Frequency: Juvenile Paget disease is a rare condition, with a frequency estimated to be less than 1 in 1 million individuals. Genetic testing can help determine the prevalence of the disease within specific populations.

Additional information about genetic testing and Juvenile Paget disease can be found in scientific articles and databases such as PubMed and OMIM. These resources provide references to published articles and genetic studies that have investigated the disease.

It is important for patients and their families to learn as much as possible about Juvenile Paget disease and genetic testing. The Genetic Testing Information Center can provide comprehensive information on genetic testing options, the genes involved, and the associated phenotype. This center offers support and resources to patients and their families to help them navigate the genetic testing process quickly and efficiently.

Genetic testing can provide crucial information for the diagnosis and management of Juvenile Paget disease. It can help identify the causative gene and determine the specific mutations involved. This information can guide treatment decisions and provide valuable information for genetic counseling.

In addition to Juvenile Paget disease, genetic testing can also be used to diagnose and manage other rare bone diseases. It is important for patients and healthcare providers to stay informed about the latest research and advances in genetic testing for these conditions.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a large center for information on genetic and rare diseases. GARD provides support, resources, and advocacy for patients and their families affected by these diseases.

GARD provides information on a wide range of genetic and rare diseases, including Juvenile Paget disease. Juvenile Paget disease is a rare genetic condition that is characterized by rapidly growing and broken bones. It is also known as idiopathic hyperphosphatasia or Paget disease of bone type 5.

Genetic testing can confirm the diagnosis of Juvenile Paget disease. It can also identify the specific gene mutations associated with the condition. GARD has a catalog of genes and additional resources about the genetic causes of various diseases, including Paget disease.

For more information on Juvenile Paget disease, GARD provides articles, patient support groups, and references to scientific and clinical articles. GARD also provides information on other phenotypes associated with Paget disease and related rare diseases.

GARD is a valuable resource for learning about the frequency, inheritance pattern, and clinical features of rare diseases. It also provides information on available testing options and available treatment options for rare diseases.

As the number of rare diseases and the demand for information and support continues to grow, GARD remains committed to providing accurate and up-to-date information to patients, healthcare providers, and the scientific community.

For more information on Juvenile Paget disease and other rare diseases, visit the Genetic and Rare Diseases Information Center website.

Patient Support and Advocacy Resources

Patients and families affected by Juvenile Paget disease can benefit from accessing various sources of support and advocacy resources. These resources provide scientific information, disease education, patient support, and advocacy opportunities. Here are some recommended resources to learn more about Juvenile Paget disease:

  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic diseases. The OMIM page on Juvenile Paget disease provides detailed information about the condition, including its genetic causes, inheritance pattern, associated phenotype, and more.
  • PubMed: PubMed is a database of scientific articles and references. Searching for “Juvenile Paget disease” on PubMed can provide additional scientific information on the disease, its genetic basis, testing methods, and more.
  • Paget Foundation: The Paget Foundation is a patient advocacy organization dedicated to supporting individuals with Paget’s disease of bone, including Juvenile Paget disease. The foundation offers patient support, educational materials, and advocacy opportunities for individuals and families affected by the condition. Their website provides reliable information on the disease and related resources.
  • Genetic and Rare Diseases Information Center (GARD): GARD provides information on rare diseases, including Juvenile Paget disease. They offer comprehensive information on the condition, including its symptoms, causes, inheritance patterns, and available treatment options. GARD also provides resources for patients and families, including information on support groups and additional sources of information.
  • National Organization for Rare Disorders (NORD): NORD is a nonprofit organization dedicated to supporting individuals with rare diseases. Their website provides information on various rare conditions, including Juvenile Paget disease. NORD offers resources for patients, including information on support groups, financial assistance programs, and advocacy opportunities.
See also  Baraitser-Winter syndrome

By accessing these patient support and advocacy resources, individuals and families affected by Juvenile Paget disease can quickly gain valuable information, connect with others facing similar challenges, and find support throughout their journey with the condition.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and diseases. It provides valuable information for healthcare professionals, researchers, and patients interested in understanding genetic conditions such as Juvenile Paget disease.

Patient-focused information:

  • Paget Disease: A rare genetic disorder characterized by the abnormal breakdown and regrowth of bone tissue.
  • Juvenile Paget Disease: A subtype of Paget disease that typically presents in childhood or early adolescence.
  • Phenotype: Patients with Juvenile Paget disease often exhibit symptoms such as enlarged, deformed bones, bone pain, and fractures.

Genetic information:

  • Genes: Several genes have been associated with Juvenile Paget disease, including TNFRSF11B and OPG.
  • Inheritance: The condition is typically inherited in an autosomal recessive manner.
  • Causes: Mutations in genes involved in bone remodeling and regulation, such as TNFRSF11B, disrupt the normal balance between bone resorption and formation.

Frequency and clinical information:

  • Frequency: Juvenile Paget disease is a rare condition, with an estimated prevalence of less than 1 in 1 million individuals.
  • Clinical features: In addition to the skeletal abnormalities, patients may present with other conditions, such as hearing loss and developmental delay.

Resources for learning more:

  • OMIM: The OMIM database contains detailed information on the genes, associated diseases, and scientific articles related to Juvenile Paget disease.
  • PubMed: PubMed is a large repository of scientific articles where researchers can find additional information on Juvenile Paget disease.
  • Advocacy and support: Various advocacy and support organizations exist to provide resources and assistance to patients and families affected by Juvenile Paget disease.

Diagnostic testing:

  • Genetic testing: Genetic testing can be performed to confirm a diagnosis of Juvenile Paget disease and identify the specific genetic mutation.

References:

  • OMIM: Visit the OMIM database for more detailed information on Juvenile Paget disease, including the names of associated genes and diseases.

In conclusion, the OMIM catalog provides a wealth of information on Juvenile Paget disease and other rare genetic conditions. Healthcare professionals, researchers, and patients can use this valuable resource to quickly learn about the genes, diseases, and scientific articles associated with these conditions.

Scientific Articles on PubMed

Juvenile Paget disease, also known as idiopathic hyperphosphatasia or chronic congenital idiopathic hyperphosphatasia, is a rare genetic condition that affects bone metabolism. This condition is associated with mutations in specific genes, which leads to an abnormal phenotype.

The condition is characterized by rapidly growing bones, resulting in abnormal shape and structure. The vertebrae are often affected, causing a range of symptoms, including bone pain and broken bones. The frequency and severity of these symptoms can vary among patients.

Testing for Juvenile Paget disease involves genetic testing to identify mutations in the associated genes. Additionally, tissue biopsies can provide additional information about the condition and help confirm the diagnosis.

Scientific articles on PubMed provide valuable information about the genetic causes, clinical features, and management of Juvenile Paget disease. These resources support researchers, healthcare professionals, and patients in learning more about the condition.

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and genetic diseases. It provides detailed information on the genetic basis and clinical presentation of Juvenile Paget disease.

In addition to OMIM, PubMed offers a large collection of scientific articles that discuss the condition’s pathology, inheritance patterns, and treatment options. These articles provide clinicians and researchers with up-to-date information on the latest advancements in Juvenile Paget disease.

Furthermore, advocacy organizations and patient support groups can be valuable resources for individuals and families affected by Juvenile Paget disease. These organizations provide information, support, and resources for managing the condition and promoting research for better understanding and treatment options.

In conclusion, Juvenile Paget disease is a rare genetic condition associated with abnormal bone growth and metabolism. Testing and genetic information are available through resources such as OMIM and PubMed. These scientific articles and advocacy organizations provide essential information and support for individuals affected by this condition.

References

    li>Support and Advocacy – Juvenile Paget Disease Foundation. (n.d.). Retrieved from https://www.jpdfoundation.org/

  • Information on Juvenile Paget Disease. (n.d.). Retrieved from https://rarediseases.org/rare-diseases/juvenile-paget-disease/
  • More about Juvenile Paget Disease. (n.d.). Retrieved from https://www.mayoclinic.org/diseases-conditions/juvenile-paget-disease/symptoms-causes/syc-20352049
  • Inheritance and Genetics of Juvenile Paget Disease. (n.d.). Retrieved from https://rarediseases.info.nih.gov/diseases/6972/juvenile-paget-disease

For more information on the genetic causes and inheritance of Juvenile Paget Disease, the following resources are available:

  • OMIM – Entry #618850 – Juvenile Paget Disease. (n.d.). Retrieved from https://www.omim.org/entry/618850
  • Genetics Home Reference – Juvenile Paget Disease. (n.d.). Retrieved from https://ghr.nlm.nih.gov/condition/juvenile-paget-disease
  • PubMed – Juvenile Paget Disease. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=juvenile+paget+disease

Additional scientific articles and papers on Juvenile Paget Disease can be found in the following resources:

  • Juvenile Paget Disease – Orphanet. (n.d.). Retrieved from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=290
  • Juvenile Paget Disease – The Connective Tissue Gene Tests Catalog. (n.d.). Retrieved from https://www.ctgt.net/product-p/c091.htm

Related Posts