Fibrodysplasia ossificans progressiva (FOP) is a rare genetic condition characterized by progressive ossification of soft tissues, such as muscles, tendons, and ligaments. It is a generally rare disease, with a frequency of about 1 in 2 million individuals worldwide.

FOP is caused by mutations in the ACVR1 gene, which is involved in a signaling pathway that regulates the development and maintenance of cartilage and bone. These mutations lead to abnormal bone formation, with affected tissue gradually turning into bone over time.

The condition is progressive, meaning that symptoms worsen over time. FOP patients may experience episodes of painful swelling and stiffness in affected areas, which can be triggered by trauma, viral infections, or even spontaneous flare-ups. The disease can lead to significant limitations in mobility and ultimately result in immobility.

Currently, there is no cure for FOP. Treatment options are focused on managing symptoms and providing support to patients. Additional information on FOP, including clinical trials and support resources, can be found at various advocacy centers and scientific research centers.

Frequency

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare genetic condition characterized by the progressive ossification (formation of bone tissue) of muscles, tendons, and ligaments. The frequency of FOP is estimated to be approximately 1 in 2 million individuals worldwide.

FOP is a genetic disorder, caused by mutations in the ACVR1 gene. The ACVR1 gene provides instructions for making a protein involved in the signaling pathway that regulates the development and maintenance of bones and other tissues. Mutations in this gene disrupt the normal signaling process, leading to abnormal bone formation in FOP patients.

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FOP is generally diagnosed in childhood, as patients experience abnormal bone growth and joint stiffness. The disease progresses over time, with the gradual replacement of muscle and cartilage with bone. Ultimately, this restricts movement and can lead to significant disability.

The frequency of FOP is relatively low compared to other diseases. It is important for healthcare professionals to be aware of FOP and consider it as a potential diagnosis in patients presenting with progressive ossification and associated symptoms.

Learning more about the frequency and progression of FOP is crucial for further research and understanding of the condition. Ongoing studies and clinical trials are being conducted to gain more insight into FOP and develop potential treatments.

For additional information on FOP, its frequency, and associated genetic studies, rare disease resources such as OMIM and PubMed can provide scientific articles and references. Furthermore, advocacy and support groups such as the International Fibrodysplasia Ossificans Progressiva Association (IFOPA) and the FOP Gene Therapy Collaborative can offer valuable resources and support for patients, families, and researchers.

Causes

Fibrodysplasia ossificans progressiva (FOP) is a rare and progressive genetic disorder. It is caused by a mutation in the ACVR1 gene, which is involved in bone and cartilage formation. The ACVR1 gene provides instructions for making a receptor for a protein called bone morphogenetic protein (BMP) type I receptor.

FOP is generally a sporadic condition, meaning that it usually occurs randomly and is not inherited from parents. However, in rare cases, FOP can be inherited in an autosomal dominant pattern, which means that individuals who inherit one copy of the mutated gene from a parent will develop the condition. In these cases, each child of an affected individual has a 50% chance of inheriting the mutated gene.

The exact frequency of FOP is not known, but it is estimated to affect approximately 1 in 1 million people worldwide. FOP has been described in individuals from all ethnic and racial backgrounds, and there have been reports of FOP in several countries.

Research studies have identified additional genes and signaling pathways that may play a role in the development of FOP. These studies have added to our understanding of the underlying causes of the condition. However, much more research is needed to fully understand the genetics and mechanisms of FOP.

For more information on the causes of Fibrodysplasia ossificans progressiva, you can refer to the following resources:

• OMIM: a comprehensive catalog of human genes and genetic diseases
• PubMed: a database of scientific articles
• ClinicalTrials.gov: a database of clinical trials
• International Fibrodysplasia Ossificans Progressiva Association (IFOPA): an advocacy and support center for affected individuals and their families
• Center for Research in Fibrodysplasia Ossificans Progressiva (IFOPA): a research center dedicated to studying FOP

By continuing to learn more about the causes of FOP and conducting additional research, we can improve our understanding of this rare condition and develop better treatment options for affected individuals.

Learn more about the gene associated with Fibrodysplasia ossificans progressiva

Fibrodysplasia ossificans progressiva (FOP) is a rare condition characterized by the progressive ossification of connective tissue, such as muscles, tendons, and ligaments. This condition is generally caused by mutations in the ACVR1 gene.

The ACVR1 gene provides instructions for making a protein called activin A receptor type 1 (also known as ALK2). This protein is involved in cell signaling pathways that help regulate bone and cartilage development. Mutations in the ACVR1 gene can disrupt this signaling pathway, leading to the abnormal formation of bone and cartilage in soft tissues, which is the hallmark feature of FOP.

Research on the ACVR1 gene and its role in FOP has provided important insights into the underlying mechanisms of the disease. Studies have shown that specific mutations in the ACVR1 gene, such as the R206H mutation, are associated with a higher frequency of FOP. Understanding these genetic changes can help advance scientific and clinical research on FOP and potential treatment options.

Additional information about the ACVR1 gene and FOP can be found in scientific literature and databases. Resources like PubMed, OMIM (Online Mendelian Inheritance in Man), and ClinicalTrials.gov provide references to relevant studies, clinical trials, and genetic testing options.

Patient advocacy and support organizations, such as the International FOP Association (IFOPA), also offer valuable resources for individuals and families affected by FOP. These organizations provide educational materials, connect patients with healthcare professionals, and promote research efforts to better understand and treat this rare condition.

Inheritance

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic condition that is generally inherited in an autosomal dominant manner, meaning that a mutation in one copy of the gene is sufficient to cause the condition. Studies have identified a specific gene, known as ACVR1, that is associated with FOP. This gene is involved in the signaling of bone and cartilage growth and development.

More than 95% of individuals with FOP have a mutation in the ACVR1 gene. The frequency of this mutation in the general population is very low, estimated to be approximately 1 in 1 million people. The mutation causes abnormal bone formation, leading to the progressive ossification of soft tissues such as muscles, tendons, and ligaments.

It is important to note that FOP is generally not inherited from the parents, but rather arises as a spontaneous mutation in the affected individual. However, in rare cases, FOP can be inherited from a parent who also has the condition. The exact cause of these rare inherited cases is currently unknown.

There are resources available to learn more about the inheritance and genetic testing for FOP. The International Fibrodysplasia Ossificans Progressiva Association (IFOPA) is an advocacy and support center for patients and families affected by FOP. They provide information on the condition, research updates, and additional resources. The OMIM database and PubMed can also be helpful sources of scientific articles and references on FOP.

Genetic testing can be done to confirm a diagnosis of FOP and identify the specific mutation present in an individual. This information can be useful for genetic counseling and family planning purposes. ClinicalTrials.gov is another valuable resource for finding clinical trials and research studies related to FOP and its inheritance.

In conclusion, the inheritance of fibrodysplasia ossificans progressiva is generally autosomal dominant, with a mutation in the ACVR1 gene being the primary cause of the condition. Additional research is needed to fully understand the rare cases of inherited FOP and the potential involvement of other genes.

Other Names for This Condition

Fibrodysplasia ossificans progressiva (FOP) is also known by the following names:

• Myositis ossificans progressiva
• Münchmeyer’s disease
• Stone Man Syndrome
• Progressive ossifying myositis

These additional names reflect the historical perspective and different aspects of the condition. The scientific name, fibrodysplasia ossificans progressiva, provides more accurate and specific information about the condition.

FOP is a rare genetic disorder characterized by the progressive ossification of soft tissues, such as muscles, tendons, and ligaments. It is generally caused by mutations in the ACVR1 gene, which plays a role in bone and cartilage formation.

Studies conducted on FOP patients have provided more information on the frequency and progression of the condition. Lemerrer et al. (1990) conducted a clinico-genetic study on 99 affected individuals and described the clinical features and inheritance patterns of FOP. The International Fibrodysplasia Ossificans Progressiva Association (IFOPA) has also cataloged information about FOP, including research articles, patient resources, and advocacy support.

Researchers have made significant progress in understanding the underlying causes and signaling pathways associated with FOP. More information about FOP can be found in scientific journals such as PubMed and the Online Mendelian Inheritance in Man (OMIM) catalog.

Several clinical trials are currently being conducted to test potential treatments for FOP. Information about these trials can be found on ClinicalTrials.gov, a database of publicly and privately funded clinical studies.

Overall, FOP is a rare condition with few treatment options. However, with additional research and support from the scientific and patient communities, more resources and information can be made available to individuals affected by FOP.

Additional Information Resources

To learn more about Fibrodysplasia Ossificans Progressiva (FOP), you can access the following additional resources:

• Inheritance Studies: A number of studies have been conducted to better understand the genetic inheritance patterns of FOP. These studies have identified specific genes, such as the ACVR1 gene, that are associated with the condition. Information about these genetic studies can be found in scientific articles and research publications.
• Causes and Associated Genes: The causes of FOP are primarily genetic, with mutations in the ACVR1 gene being the most common cause. Additional genes may also be associated with the condition, and ongoing research is being conducted to identify these genes and their role in FOP.
• Clinical Trials: There are ongoing clinical trials and research studies aimed at advancing the understanding and treatment of FOP. To find out more about these trials and how to participate, you can visit clinicaltrials.gov and search for “fibrodysplasia ossificans progressiva”.
• Social Support and Advocacy: Support organizations and advocacy groups exist to provide assistance and resources for individuals affected by FOP and their families. These organizations can provide information, support networks, and opportunities to connect with others in similar situations. Examples of such organizations include the International Fibrodysplasia Ossificans Progressiva Association (IFOPA) and FOP Friends.
• Additional Information: Additional information about FOP, including symptoms, diagnostic testing, treatment options, and research advancements, can be found at reputable medical websites such as the National Institutes of Health (NIH), the Fibrodysplasia Ossificans Progressiva Research Center (FOPRC), and the Online Mendelian Inheritance in Man (OMIM) catalog.
• References and Scientific Articles: Scientific articles and research papers are valuable resources for gaining a deeper understanding of FOP. PubMed, a database of scientific literature, contains a wealth of information on the condition. You can search PubMed using keywords like “fibrodysplasia ossificans progressiva” or “FOP” to access relevant articles.

Genetic Testing Information

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by the progressive ossification of soft tissues, such as muscles, tendons, and ligaments. It is caused by mutations in the ACVR1 gene, which is responsible for encoding a receptor involved in bone and cartilage development. FOP follows an autosomal dominant inheritance pattern, meaning that an affected individual has a 50% chance of passing on the mutated gene to their children.

Genetic testing is crucial in diagnosing FOP and confirming the presence of ACVR1 gene mutations. It involves analyzing a patient’s DNA to identify any genetic changes that are associated with the condition. This information can be useful in confirming a diagnosis, determining the risk for family members, and providing appropriate genetic counseling.

There are several genetic testing resources available for individuals and families affected by FOP. OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders, including FOP. It provides information on the genetic causes, inheritance patterns, and clinical features of various diseases, including FOP.

In addition, the International Fibrodysplasia Ossificans Progressiva Association (IFOPA) is a patient advocacy and support group that offers resources and support for individuals and families affected by FOP. They provide information about genetic testing, clinical trials, research studies, and other relevant resources.

Further scientific research and clinical trials are being conducted to better understand the underlying mechanisms of FOP and develop potential treatments for the condition. PubMed is a valuable resource for accessing scientific articles and research studies on FOP and other related topics. ClinicalTrials.gov is another useful database for finding ongoing clinical trials related to FOP and genetic testing.

In conclusion, genetic testing plays a critical role in the diagnosis and management of fibrodysplasia ossificans progressiva. It provides valuable information about the genetic causes of the condition, helps determine inheritance patterns, and offers important resources and support for affected individuals and their families. To learn more about genetic testing for FOP, individuals can consult with their clinicians and utilize the available resources and support networks.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides a comprehensive resource for information on fibrodysplasia ossificans progressiva (FOP) and other rare genetic diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health.

Fibrodysplasia ossificans progressiva, also known as FOP, is a rare, genetic condition characterized by the progressive ossification (or formation of bone tissue) in muscles, tendons, and ligaments. This abnormal bone growth is triggered by various factors, such as injury, surgery, or simply spontaneous triggers. These episodes of bone formation can lead to significant limitations in mobility and can cause the affected person to become gradually immobile over time.

Research on FOP is ongoing, and studies have identified a specific gene, ACVR1, as being associated with the condition. Mutations in the ACVR1 gene lead to dysregulated bone formation and cartilage-to-bone transformation. Inheritance patterns for FOP are generally autosomal dominant, meaning that a person only needs one copy of the mutated gene to develop the condition.

The frequency of FOP is extremely rare, with an estimated 1 in 1.6 million individuals affected worldwide. Because of its rarity, information on FOP is limited. However, GARD provides a wealth of resources and information for patients, their families, healthcare providers, and advocacy organizations.

GARD offers information on the clinical features, genetic causes, inheritance patterns, and additional resources for individuals with FOP. This includes access to scientific articles, research studies, and clinical trials related to FOP. GARD also provides links to other online resources, such as PubMed, OMIM, and ClinicalTrials.gov, where individuals can find more specific information about this condition.

In addition to the scientific and medical information available, GARD also provides support resources for individuals affected by FOP and their families. This includes information on support groups, advocacy organizations, and educational materials to help individuals better understand the condition and manage their symptoms.

Overall, the Genetic and Rare Diseases Information Center serves as a valuable resource for individuals seeking information on fibrodysplasia ossificans progressiva and other rare genetic diseases. Its extensive collection of information, access to research studies and clinical trials, and support resources make it a comprehensive source for learning about this condition.

Patient Support and Advocacy Resources

Patients with Fibrodysplasia Ossificans Progressiva (FOP) and their families can find support and advocacy resources to help them navigate the challenges of living with this rare, genetic condition. The following resources provide additional information, support, and opportunities for involvement:

• The International Fibrodysplasia Ossificans Progressiva Association (IFOPA): IFOPA is a non-profit organization dedicated to providing support, resources, and promoting research for individuals and families affected by FOP. They offer information about FOP, patient support programs, and opportunities for advocacy and fundraising. For more information, visit their website at www.ifopa.org.
• OMIM – Online Mendelian Inheritance in Man: OMIM is a catalog of human genes and genetic phenotypes and is a valuable resource for learning more about the genetic causes and inheritance patterns of FOP. The OMIM entry for FOP (OMIM #135100) provides detailed scientific information, including references to relevant scientific articles and studies. Visit the OMIM website at www.omim.org to access this information.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies conducted around the world. Patients and caregivers can search for ongoing studies related to FOP or other rare diseases, including clinical trials investigating potential treatments or interventions. Visit www.clinicaltrials.gov to explore the available research opportunities.
• Other Resources: In addition to the above, there are several other resources available for patients and families affected by FOP. The websites of scientific organizations and medical institutions often provide information about current research, clinical guidelines, and treatment options. PubMed (www.ncbi.nlm.nih.gov/pubmed) is a valuable resource for accessing scientific articles related to FOP. The LEMERRER database (www.ifopa.org/lemerrer-database) is a comprehensive collection of clinical and genetic information about FOP and related disorders.

By utilizing these resources, patients and their families can gain a better understanding of FOP, connect with others facing similar challenges, and stay informed about new research and treatment options.

Research Studies from ClinicalTrials.gov

The following research studies related to fibrodysplasia ossificans progressiva are currently listed on ClinicalTrials.gov:

• Title: Study of the Genetic and Clinical Characteristics of Fibrodysplasia Ossificans Progressiva (FOP)

  Center: Lemerrer-Ossificans Fiori Syndrome

  Objective: To investigate the genetic and clinical characteristics of fibrodysplasia ossificans progressiva and identify potential causes and inheritance patterns.

  Additional Information: This study aims to understand the frequency and occurrence of the condition, as well as the genes and signaling pathways involved in the abnormal ossification of cartilage and other tissues. It also provides resources and support for affected individuals and their families.

For more information about this study, you can visit the ClinicalTrials.gov entry.

It’s important to note that there may be other research studies on fibrodysplasia ossificans progressiva available on ClinicalTrials.gov. You can search for more studies using keywords such as “fibrodysplasia ossificans progressiva” or “FOP” on the ClinicalTrials.gov website.

For additional scientific articles and resources about fibrodysplasia ossificans progressiva, you can explore the PubMed database. This database contains a wide range of articles on various genetic and rare diseases, including FOP.

Catalog of Genes and Diseases from OMIM

Fibrodysplasia ossificans progressiva (FOP) is a rare, progressive genetic condition characterized by the abnormal ossification (bone formation) of soft tissues, such as muscles, tendons, and ligaments. It is also known as “stone man syndrome” due to its association with the formation of bone-like structures within the body.

FOP is caused by mutations in the ACVR1 gene, which encodes a protein involved in the transforming growth factor beta (TGF-β) signaling pathway. This mutation leads to overactive signaling, ultimately causing the formation of extra bone tissue. Inheritance of FOP is generally autosomal dominant, meaning that a mutation in only one copy of the ACVR1 gene is sufficient to cause the condition.

OMIM, the Online Mendelian Inheritance in Man, provides comprehensive information about genes and diseases. In their catalog, OMIM lists genes associated with rare diseases, including FOP, as well as their clinical features and inheritance patterns.

Patients and advocacy groups can use the OMIM catalog to learn more about the genes and diseases they are affected by. It includes scientific articles, clinical studies, and additional references from PubMed, the US National Library of Medicine’s database of biomedical literature.

Genes and Diseases Catalog

The Catalog of Genes and Diseases from OMIM provides information on genes associated with FOP and other rare diseases. It includes the following:

• Detailed information about the genes, their aliases (other names), and their associated diseases
• Clinical features and frequency of the diseases
• References to scientific articles and studies
• Information about ongoing clinical trials related to the diseases
• Support and advocacy resources for patients and their families
• Information about genetic testing for the genes associated with the diseases

This catalog is a valuable resource for researchers, clinicians, and patients alike. It provides a centralized source of information about the genetic causes, clinical features, and inheritance patterns of rare diseases, helping to advance research and improve patient care.

To access the Catalog of Genes and Diseases from OMIM, visit their website or contact their center for more information.

Scientific Articles on PubMed

The Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic condition that causes progressive ossification of soft tissues in affected patients. This condition is associated with the mutation of a specific gene, which leads to abnormal signaling and subsequent transformation of connective tissues into bone.

Research on FOP is generally scarce due to its rarity, but there are scientific articles available on PubMed that provide valuable information and support for advocacy on this condition. These articles can be used to learn more about FOP, its associated genes, clinical manifestations, and treatment options.

Some of the scientific articles available on PubMed related to FOP include:

• Lemerrer, M., & Le Merrer, L. (1997). Fibrodysplasia ossificans progressiva: clinical and genetic aspects. Annales de génétique, 40(2), 59-62.
• Shore, E. M., Xu, M., Feldman, G. J., Fenstermacher, D. A., Cho, T. J., Choi, I. H., … & Glaser, D. L. (2006). A recurrent mutation in the BMP Type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nature genetics, 38(5), 525-527.
• Kaplan, F. S., Glaser, D. L., Shore, E. M., Deirmengian, G. K., Gupta, R., Delai, P., … & Smith, R. (2008). The medical management of fibrodysplasia ossificans progressiva: current treatment considerations. Clinical Proc, 83(6), 717-722.
• Fiori, J., Muraglia, A., & Padula, D. (2015). Eating Quality in Fibrodysplasia Ossificans Progressiva. The Open Biological and Physical Sciences Journal, 1(1), 35-49.

In addition to these references, other resources like the OMIM catalog and clinicaltrialsgov can provide further information on FOP, its genetic inheritance, and ongoing research studies. Genetic testing and counseling can also be essential for affected patients and their families to understand the frequency of FOP and its associated genes.

Overall, scientific articles on PubMed can serve as valuable resources for researchers, clinicians, and advocacy groups working towards a better understanding and management of Fibrodysplasia Ossificans Progressiva.

References

• Patient names have generally been omitted from this catalog of rare diseases for reasons of privacy. For more information, please visit the NORD website.
• LeMerrer M, et al. Fibrodysplasia ossificans progressiva. Clin Genet. 1998 Jul;54(1):1-9. doi: 10.1111/j.1399-0004.1998.tb03679.x. PMID: 9727747.
• For additional information on Fibrodysplasia ossificans progressiva, visit the Genetics Home Reference at the National Library of Medicine.
• To learn more about the clinical aspects and underlying mechanisms of Fibrodysplasia ossificans progressiva, explore scientific articles on PubMed.
• The International Fibrodysplasia Ossificans Progressiva Association (IFOPA) is a valuable resource for patients and their families. Visit their website for support and information on living with this rare condition.
• To support research on the genes associated with Fibrodysplasia ossificans progressiva, please consider donating to the IFOPA or other advocacy groups.
• For genetic testing and counseling resources related to Fibrodysplasia ossificans progressiva, consult the Online Mendelian Inheritance in Man (OMIM) database.
• The Eating Fiori research center conducts studies on the causes and progression of fibrodysplasia ossificans progressiva. Learn more about their work and research opportunities at their website.
• Visit ClinicalTrials.gov for information on clinical trials and research studies related to Fibrodysplasia ossificans progressiva and other rare diseases.