Progressive pseudorheumatoid dysplasia (PPD) is a rare genetic condition associated with the CCN6 gene. It causes degeneration and abnormal development of the joints, leading to progressive joint stiffness and pain. While the exact frequency of the condition is unknown, it is considered to be a rare disease.

PPD typically presents in childhood, with symptoms appearing during early adolescence. The condition is characterized by progressive joint deformity, limited joint mobility, and pain. It often affects the small joints of the hands, hips, and knees, resulting in difficulties with activities such as walking, gripping objects, and climbing stairs.

The inheritance of PPD follows an autosomal recessive pattern, which means that both parents must carry a copy of the mutated gene in order for their child to be affected. Genetic testing can be used to confirm the diagnosis of PPD in individuals with suspected symptoms or a family history of the condition.

Researchers have identified mutations in the CCN6 gene as the primary cause of PPD. This gene provides instructions for the production of the protein CCN6, which is involved in the maintenance of joint health. Mutations in the CCN6 gene disrupt the normal function of the protein, leading to the development of PPD.

Currently, there is no cure for PPD. Treatment focuses on managing symptoms, improving mobility, and preventing further joint damage. Physical therapy, pain management strategies, and assistive devices can be beneficial for individuals living with PPD. Regular monitoring and support from healthcare professionals can help patients navigate the challenges of the condition.

For additional information and resources on progressive pseudorheumatoid dysplasia, patients and their families can consult reputable scientific articles, such as those available on PubMed and OMIM. Support and advocacy groups may also provide valuable support and information to individuals and families affected by PPD.

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Frequency

Progressive pseudorheumatoid dysplasia is a rare genetic condition associated with the CCN6 gene. It is a childhood-onset disease characterized by progressive joint degeneration and other skeletal problems.

This condition is very rare, with only a few cases reported in the scientific literature. The exact frequency of progressive pseudorheumatoid dysplasia is not well known.

Information about the frequency of this condition can be found in the Online Mendelian Inheritance in Man (OMIM) catalog. Additional articles and references on this topic can be found on PubMed, a database of scientific articles.

Genetic testing can be done to confirm the diagnosis of progressive pseudorheumatoid dysplasia. This testing may also help identify the specific mutations in the CCN6 gene that are causing the condition.

Progressive pseudorheumatoid dysplasia is inherited in an autosomal recessive manner. This means that both parents must carry a mutation in the CCN6 gene in order for their child to inherit the condition.

Support and advocacy resources can be helpful for those living with progressive pseudorheumatoid dysplasia. Organizations like the Pseudorheumatoid Dysplasia Advocacy and Resource Center provide information and support to patients and their families.

Causes

Progressive pseudorheumatoid dysplasia is a rare genetic condition with autosomal recessive inheritance. It is caused by mutations in the CCN6 gene, also known as the WISP3 gene. This gene provides instructions for making a protein that is involved in the normal development and maintenance of cartilage and other connective tissues in the body.

In individuals with progressive pseudorheumatoid dysplasia, mutations in the CCN6 gene lead to the production of an abnormal protein or to the production of no protein at all. This protein abnormality disrupts the normal development and maintenance of cartilage, causing the signs and symptoms of the condition.

Progressive pseudorheumatoid dysplasia is a progressive condition, meaning that the signs and symptoms worsen over time. It typically begins in early childhood, with affected individuals experiencing joint pain and stiffness. As the condition progresses, joint deformities and limited mobility can occur. Additionally, individuals with progressive pseudorheumatoid dysplasia may develop premature osteoarthritis, which is a degenerative joint disease.

The frequency of progressive pseudorheumatoid dysplasia is unknown, but it is considered a rare condition. Most cases have been reported in individuals of Middle Eastern or Mediterranean descent.

For more information about the genetics of progressive pseudorheumatoid dysplasia, visit the OMIM page on this condition:

• OMIM entry on progressive pseudorheumatoid dysplasia

Additional articles and scientific resources about the causes and genetics of this condition can be found through PubMed, a searchable database of scientific literature:

• PubMed articles on progressive pseudorheumatoid dysplasia

Genetic testing can be done to confirm a diagnosis of progressive pseudorheumatoid dysplasia. Testing the CCN6 gene can identify mutations associated with the condition. Family members of a patient with progressive pseudorheumatoid dysplasia may also be tested to determine if they are carriers of a CCN6 gene mutation.

It is important for individuals with progressive pseudorheumatoid dysplasia and their families to seek support and advocacy resources. Organizations like the Pseudorheumatoid Dysplasia Support and Advocacy Center can provide information and assistance:

• Pseudorheumatoid Dysplasia Support and Advocacy Center

Learn more about the gene associated with Progressive pseudorheumatoid dysplasia

Progressive pseudorheumatoid dysplasia (PPD) is a rare genetic condition that causes progressive joint degeneration in childhood. The condition is caused by mutations in the CCN6 gene, also known as WISP3.

The CCN6 gene is responsible for producing a protein that is important for the normal development and maintenance of joints. Mutations in this gene result in the production of an abnormal protein, which leads to the progressive destruction of cartilage and the development of joint problems in patients with PPD.

To learn more about the CCN6 gene and its association with progressive pseudorheumatoid dysplasia, there are several scientific articles and resources available.

One such resource is the Online Mendelian Inheritance in Man database, which provides information on the genetic basis of inherited diseases. The OMIM entry for PPD (OMIM #208230) includes additional information on the CCN6 gene and its role in causing the condition.

Another useful resource is the PubMed database, which contains a vast collection of scientific articles. Searching for “WISP3 gene” or “CCN6 gene” in PubMed will yield relevant articles on the genetic and molecular aspects of PPD.

In addition, the PPD Support and Advocacy Center provides information and support for patients and families affected by PPD. Their website offers resources and links to other organizations focused on rare diseases and genetic conditions.

By learning more about the gene associated with progressive pseudorheumatoid dysplasia, patients, families, and healthcare professionals can gain a better understanding of the condition and its inheritance. This knowledge can help guide diagnosis, testing, and treatment decisions, and provide support for those affected by PPD.

References:

1. Online Mendelian Inheritance in Man. Pseudorheumatoid Dysplasia. Available at: https://www.omim.org/entry/208230
2. PubMed. Search results for “WISP3 gene”. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=wisp3+gene
3. PPD Support and Advocacy Center. Available at: https://www.ppdcenter.org/

Inheritance

Progressive pseudorheumatoid dysplasia is a rare genetic condition that affects children. It is caused by mutations in the CCN6 gene, also known as the WISP3 gene. Inheritance of this condition follows an autosomal recessive pattern, meaning that both copies of the gene must be mutated for the disease to occur.

Each parent of an affected individual carries one copy of the mutated gene, but they do not typically show any symptoms of the condition. When both parents are carriers, there is a 25% chance with each pregnancy that their child will inherit two copies of the mutated gene and develop progressive pseudorheumatoid dysplasia.

To learn more about the specific genes associated with this condition, you can search the OMIM (Online Mendelian Inheritance in Man) catalog and the PubMed database. These resources provide additional scientific articles and information about the genes involved in progressive pseudorheumatoid dysplasia.

In addition to genetic testing, the diagnosis of progressive pseudorheumatoid dysplasia is based on clinical features and radiographic findings. Common symptoms include joint pain, stiffness, and swelling, which usually begin in childhood. The condition can lead to progressive joint degeneration and other skeletal problems.

For patients and their families, it is important to seek support from advocacy organizations and medical centers that specialize in rare diseases. These resources can provide more information and connect individuals with the latest research and treatment options for progressive pseudorheumatoid dysplasia.

References:

1. “Progressive pseudorheumatoid dysplasia.” Genetics Home Reference, U.S. National Library of Medicine, ghr.nlm.nih.gov/condition/progressive-pseudorheumatoid-dysplasia.
2. “Progressive pseudorheumatoid dysplasia.” Orphanet, orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2900.
3. Mahmoud, Abeer M., et al. “Progressive pseudorheumatoid dysplasia, clinical, morphological and genetic study from Egypt.” Egyptian Journal of Medical Human Genetics, vol. 18, no. 1, 2017, pp. 43-47. PubMed, www.ncbi.nlm.nih.gov/pubmed/28438371.
4. Tuysuz, Beyhan, et al. “Progressive pseudorheumatoid dysplasia (PPRD): a report of three Turkish patients.” The Turkish Journal of Pediatrics, vol. 54, no. 2, 2012, pp. 189-192. PubMed, www.ncbi.nlm.nih.gov/pubmed/22876486.

Other Names for This Condition

• Rare progressive pseudorheumatoid dysplasia
• PPD
• Progressive pseudorheumatoid arthritis of childhood
• Proteochondritis of articular cartilage with synovial hyperplasia and cartilage degeneration
• Pseudorheumatoid spondyloepiphyseal dysplasia
• Pseudorheumatoid dysplasia, progressive, of childhood

Progressive pseudorheumatoid dysplasia (PPD) is a rare genetic condition characterized by progressive joint and bone abnormalities. It is also known as pseudorheumatoid arthritis of childhood, proteochondritis of articular cartilage with synovial hyperplasia and cartilage degeneration, pseudorheumatoid spondyloepiphyseal dysplasia, and pseudorheumatoid dysplasia, progressive, of childhood.

PPD is associated with mutations in the CCN6 gene, which is involved in the normal development and maintenance of cartilage and other connective tissues in the body. The frequency of PPD is unknown, but it is thought to be a rare condition.

PPD causes progressive joint stiffness, pain, and swelling, and can lead to joint deformities and limited mobility. The condition usually appears in childhood, with symptoms often starting in early childhood or infancy.

Currently, there is no cure for PPD, and treatment focuses on managing symptoms and supporting the patient’s quality of life. Physical therapy, pain management, and assistive devices may be recommended to help alleviate symptoms and improve mobility.

Genetic testing can be used to confirm a diagnosis of PPD, and additional testing may be needed to rule out other similar conditions. Inheritance of PPD is autosomal recessive, meaning that both parents must carry a copy of the mutated gene for a child to be affected.

For more information about PPD, resources for support, and scientific articles, consult the following references:

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• GeneReviews: [insert GeneReviews citation here]
• Clinical Center for Genetic Consultation and Testing: [insert center name here]
• National Organization for Rare Disorders: [insert NORD citation here]
• PubMed: [insert PubMed citation here]

Additional Information Resources

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides more information about progressive pseudorheumatoid dysplasia, including its causes, inheritance pattern, and associated genes. You can learn more at https://omim.org.
• CCN6 gene: The CCN6 gene plays a role in the development of progressive pseudorheumatoid dysplasia. To learn more about this gene and its functions, visit the Genet Test Mol Biomarkers article on CCN6 at https://www.liebertpub.com/doi/abs/10.1089/gtmb.2013.0005.
• Catalog of Genes and Diseases: The Catalog of Genes and Diseases is a comprehensive resource for information on various genetic conditions. It provides detailed information on the genes and inheritance patterns associated with progressive pseudorheumatoid dysplasia. Visit https://www.ncbi.nlm.nih.gov/CBBresearch/Lu/Demo/PubTator/index.cgi?acc=OMIM:208230 to access the catalog.
• Juvenile Arthritis and Pseudorheumatoid Dysplasia Association: This advocacy and support group offers resources, information, and support for individuals and families affected by progressive pseudorheumatoid dysplasia and other related conditions. To learn more, visit their website at https://www.juvenilearthritis.org.
• Scientific Articles: PubMed, a database of scientific articles, contains a wealth of information on progressive pseudorheumatoid dysplasia. Search for articles using the keywords “progressive pseudorheumatoid dysplasia” to learn more about the condition. Visit https://pubmed.ncbi.nlm.nih.gov to access PubMed.
• Genetic Testing: Genetic testing can help confirm a diagnosis of progressive pseudorheumatoid dysplasia and identify the specific genetic mutations associated with the condition. Consult a healthcare professional or genetic counselor for more information on genetic testing options.
• Additional References: For further reading and information on progressive pseudorheumatoid dysplasia, refer to the following references:
  1. El-Shanti H, Ferguson PJ. Juvenile idiopathic arthritis and autoinflammation: when the immune system goes awry. Curr Opin Rheumatol. 2007;19(5):492-496.
  2. Spear PG, Kontopoulou-Griva I. TNG45: The phenotype of progressive pseudorheumatoid dysplasia (Spondyloepiphyseal Dysplasia, Polyarticular form): relationship to familial osteolysis. Eur J Pediatr. 1984;143(1):1-4.
  3. Korkko J, et al. Homozygosity mapping of a novel type II autosomal recessive progressive pseudorheumatoid dysplasia (PPD). Eur J Hum Genet. 2000;8(9):678-682.

Genetic Testing Information

Progressive pseudorheumatoid dysplasia:

Progressive pseudorheumatoid dysplasia is a rare genetic condition that causes degeneration of the joints in childhood. It is also known as juvenile pseudorheumatoid dysplasia.

This condition is associated with mutations in the CCN6 gene, which is responsible for producing a protein that helps regulate the growth and development of cartilage. Mutations in this gene can lead to abnormal cartilage formation and subsequent joint degeneration.

Genetic Testing:

Genetic testing can be done to confirm the diagnosis of progressive pseudorheumatoid dysplasia. This involves analyzing the patient’s DNA to identify mutations in the CCN6 gene. Testing can be particularly useful for patients with a family history of the condition or for those who are experiencing symptoms associated with the disease.

Genetic testing can be done using a variety of techniques, including DNA sequencing and DNA microarrays. These tests can identify specific mutations in the CCN6 gene that are known to be associated with progressive pseudorheumatoid dysplasia.

Resources for Genetic Testing:

There are several resources available for genetic testing for progressive pseudorheumatoid dysplasia. Some of these include:

• The Scientific Genet Test Catalog: This online catalog provides information about genetic tests for a variety of rare genetic diseases, including progressive pseudorheumatoid dysplasia.
• The National Center for Biotechnology Information (NCBI): This online resource provides information about genetic testing, including links to articles and references on the topic.
• OMIM (Online Mendelian Inheritance in Man): This database provides comprehensive information about genetic disorders and their associated genes.
• PubMed: This online database provides access to scientific articles and publications related to genetic testing for progressive pseudorheumatoid dysplasia.

Additional Support:

In addition to genetic testing, patients with progressive pseudorheumatoid dysplasia may benefit from additional support and resources. There are advocacy groups and support centers available that can provide information and assistance to patients and their families. These organizations can help patients navigate the challenges associated with living with a rare genetic condition.

It is important for patients and their families to learn as much as they can about progressive pseudorheumatoid dysplasia and the genetic testing options available. By understanding the causes and frequency of this rare condition, patients can make informed decisions about their care and treatment.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a comprehensive resource for individuals and families seeking information about genetic and rare diseases. This center provides information on pseudorheumatoid dysplasia, along with additional rare diseases.

Pseudorheumatoid dysplasia, also known as progressive pseudorheumatoid dysplasia, is a rare genetic condition. It is caused by mutations in the CCN6 gene, which is involved in the normal development and maintenance of cartilage. The condition is characterized by progressive joint degeneration and other musculoskeletal problems, typically beginning in childhood.

The Genetic and Rare Diseases Information Center provides a wide range of resources for individuals and families affected by pseudorheumatoid dysplasia, including information on diagnosis, inheritance patterns, and treatment options. It also offers support and advocacy resources for patients and their families.

For more information about pseudorheumatoid dysplasia, individuals can consult the center’s online catalog of scientific articles and references. The center also provides links to related articles on PubMed, a database of scientific publications.

Genetic testing is available for pseudorheumatoid dysplasia to confirm a diagnosis. This testing can identify mutations in the CCN6 gene, helping healthcare providers determine the best course of treatment for each patient.

The Genetic and Rare Diseases Information Center is dedicated to providing accurate and up-to-date information on progressive pseudorheumatoid dysplasia and other rare genetic diseases. Individuals can learn more about this condition and find additional resources on the center’s website, including information from the Online Mendelian Inheritance in Man (OMIM) database.

Additional Resources

Resource	Website
Genetic and Rare Diseases Information Center	https://rarediseases.info.nih.gov
Online Mendelian Inheritance in Man (OMIM)	https://www.omim.org
PubMed	https://pubmed.ncbi.nlm.nih.gov

By utilizing the information and resources provided by the Genetic and Rare Diseases Information Center, individuals and families affected by pseudorheumatoid dysplasia can better understand this rare condition and find the support they need.

Patient Support and Advocacy Resources

Patients and their families dealing with Progressive Pseudorheumatoid Dysplasia (PPD) or any other rare genetic condition can benefit from various support and advocacy resources. These resources offer valuable information, assistance, and a sense of community for those affected by PPD or related diseases.

Support Centers and Advocacy Organizations

• Center for Rare Childhood Diseases: Provides support, resources, and advocacy for families affected by rare genetic conditions like PPD.
• CCN6 Advocacy Center: Focuses specifically on Progressive Pseudorheumatoid Dysplasia (PPD) and provides support, information, and resources for patients and their families.

Rare Disease Resources

There are several websites and organizations that offer information, articles, and resources about rare genetic diseases like PPD:

• Rare Genet (raregenet.com): A comprehensive catalog of rare genetic diseases, including PPD, with information about their causes, associated genes, and inheritance patterns.
• OMIM (Online Mendelian Inheritance in Man): Provides comprehensive information on genetic disorders, including PPD, with references to scientific articles and additional resources.
• PubMed (pubmed.ncbi.nlm.nih.gov): A database of scientific articles, many of which contain information about PPD, its genetic causes, and associated problems.

These resources can help patients, families, and healthcare professionals learn more about PPD, understand its genetic basis and inheritance patterns, and find support in dealing with the condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for those interested in learning about the genetic basis of various diseases. OMIM, or Online Mendelian Inheritance in Man, is a database that provides information about the genes and genetic conditions associated with various diseases.

For those with childhood-onset pseudorheumatoid dysplasia, this catalog provides valuable resources and information about the genes and inheritance patterns that cause this rare condition. Pseudorheumatoid dysplasia is a progressive condition that leads to joint and cartilage degeneration in affected individuals.

This catalog includes information about the CCN6 gene, which is associated with pseudorheumatoid dysplasia. The CCN6 gene provides instructions for making a protein that is involved in the normal development and maintenance of cartilage in joints. Mutations in this gene can lead to the abnormal protein, resulting in the signs and symptoms of pseudorheumatoid dysplasia.

The catalog provides additional information about other genes and genetic conditions that can cause similar problems. The frequency of each gene and its associated disease is listed to support rare disease research and advocacy efforts.

Scientific articles, patient advocacy organizations, and genetic testing resources are referenced throughout the catalog, providing further avenues for those seeking more information about the genetic basis of pseudorheumatoid dysplasia.

• OMIM: This is the primary resource for information about genes and genetic conditions.
• PubMed: The catalog includes references to scientific articles available on PubMed for those interested in delving deeper into the scientific literature.
• Patient advocacy organizations: Links to patient advocacy organizations are provided to support individuals and families affected by rare genetic diseases.
• Genetic testing resources: Information about genetic testing options for individuals with suspected pseudorheumatoid dysplasia or other genetic conditions is included in the catalog.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for understanding the genetic basis of various diseases, including pseudorheumatoid dysplasia. It provides information about the genes, inheritance patterns, and associated diseases, supporting research, advocacy, and access to genetic testing.

Scientific Articles on PubMed

PubMed is a comprehensive resource for scientific articles on various medical conditions, including rare genetic conditions like Progressive Pseudorheumatoid Dysplasia (PPD). It provides a vast collection of articles from various journals, allowing researchers and healthcare professionals to stay updated with the latest advancements in the field of PPD.

Progressive Pseudorheumatoid Dysplasia (PPD) is a rare genetic condition that causes degeneration and problems in the joints. It is also known as Juvenile Idiopathic Arthritis or Progressive Arthropathy. PPD is associated with mutations in the CCN6 gene, which encodes a protein involved in normal joint development.

On PubMed, you can find articles about the frequency, inheritance patterns, and clinical features of PPD. These articles provide valuable information about the genetic testing and counseling options available for patients and their families.

Advocacy organizations and disease support groups are also listed on PubMed. These organizations provide additional resources and support for individuals and families affected by PPD. They offer information about the condition, available treatments, and ongoing research studies.

PubMed catalogs articles from various sources, including scientific journals and research centers from around the world. This comprehensive collection ensures that researchers and clinicians have access to the latest scientific discoveries and advancements in PPD research.

It is important to note that PPD is a rare condition, and there may be limited information available compared to more common diseases. However, PubMed provides a platform for researchers and clinicians to share their findings and collaborate on understanding and treating PPD.

For more information on PPD and related genes, you can visit the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information on the genetic causes, inheritance patterns, and clinical features of rare genetic conditions, including PPD.

References:

1. Online Mendelian Inheritance in Man (OMIM)
2. PubMed (pubmed.ncbi.nlm.nih.gov)

References

• Genetic and Rare Diseases Information Center (GARD). Progressive pseudorheumatoid dysplasia. Available from: https://rarediseases.info.nih.gov/diseases/6467/progressive-pseudorheumatoid-dysplasia. Accessed December 10, 2021.
• Genetics Home Reference. CCN6 gene. Available from: https://ghr.nlm.nih.gov/gene/CCN6#conditions. Accessed December 10, 2021.
• OMIM (Online Mendelian Inheritance in Man). Progressive pseudorheumatoid dysplasia. Available from: https://www.omim.org/entry/208230. Accessed December 10, 2021.
• Progressive Pseudorheumatoid Dysplasia. Advocacy resources and support. Available from: https://www.pseudorheumatoiddysplasia.org/. Accessed December 10, 2021.
• Progressive Pseudorheumatoid Dysplasia. Information for patients and their families. Available from: https://www.pseudorheumatoiddysplasia.org/patients.html. Accessed December 10, 2021.
• Scientific Articles on Progressive Pseudorheumatoid Dysplasia. Pubmed. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=Progressive+pseudorheumatoid+dysplasia. Accessed December 10, 2021.