Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a rare genetic autoinflammatory disease. Research on TRAPS is ongoing, as scientists strive to learn more about the causes and triggers of this condition. TRAPS is typically characterized by recurrent fevers and other symptoms such as abdominal pain, joint inflammation, and rashes.

TRAPS is caused by mutations in the TNFRSF1A gene, which produces proteins involved in the regulation of inflammation. These mutations lead to the malfunctioning of the TNFRSF1A protein, resulting in periodic fevers and systemic inflammation. The inheritance pattern of TRAPS is autosomal dominant, meaning that a person with one mutated copy of the gene can develop the condition.

There are various resources available for patients and their families to learn more about TRAPS. The OMIM and PubMed databases provide scientific articles and additional information on TRAPS, while advocacy and support groups such as the Periodic Fever Syndrome Foundation offer support and resources for patients and their families. Genetic testing for the TNFRSF1A gene can be performed at specialized centers, and clinicaltrials.gov provides information on ongoing studies and clinical trials related to TRAPS.

Although TRAPS is considered a rare disease, more and more cases are being diagnosed as awareness and understanding of the syndrome increase. The novel insights gained from research studies are helping clinicians to better diagnose and manage patients with TRAPS. Drs. Todd and Powell and their colleagues have published significant research articles on TRAPS, contributing to the scientific knowledge of this condition.

Frequency

The frequency of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) is estimated to be rare but prevalence rates are difficult to determine due to the condition being underdiagnosed and varying genetic causes within affected individuals.

TRAPS is associated with mutations in the TNFRSF1A gene, which encodes the tumor necrosis factor receptor superfamily 1A. These mutations cause malfunctioning of the proteins involved in the inflammatory response within the body.

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According to the information available in OMIM (Online Mendelian Inheritance in Man) and other scientific articles, TRAPS is inherited in an autosomal dominant pattern. This means that only one copy of the mutated gene is required to develop the condition. However, rare cases of TRAPS without an identifiable mutation in the TNFRSF1A gene have also been reported, suggesting the involvement of other genes or genetic factors.

Clinical and genetic studies have provided additional information about the frequency and characteristics of TRAPS. There is evidence to suggest that TRAPS may be more common in certain populations, such as individuals of Dutch and Irish descent. However, the condition can occur in individuals of any ethnic background.

TRAPS is characterized by recurrent episodes of fever and other symptoms such as abdominal pain, rash, and joint inflammation. These episodes can last for days to weeks and can be triggered by various factors, including infections, stress, and physical exertion.

There are limited resources available specifically for TRAPS, but patients and their families can learn more about the condition and find support through advocacy groups, patient organizations, and online communities. The TRAPS Center at Cincinnati Children’s Hospital Medical Center provides information and resources for patients and healthcare providers.

In addition, genetic testing can be used to confirm the diagnosis of TRAPS and identify the specific genetic mutation. This information can be valuable for determining the inheritance pattern within families and providing targeted treatment options.

Research on TRAPS is ongoing, and novel genes and additional genetic causes are being identified. ClinicalTrials.gov is a valuable resource for finding information on current research studies and clinical trials related to TRAPS.

Causes

Tumor necrosis factor receptor-associated periodic syndrome (Tumor necrosis factor receptor-associated periodic syndrome) is primarily caused by genetic factors. Mutations in the TNFRSF1A gene, which encodes the Tumor Necrosis Factor Receptor 1 (TNFR1) protein, are responsible for the majority of cases of Tumor necrosis factor receptor-associated periodic syndrome. These mutations result in a dysfunctional TNFR1 protein, leading to abnormal activation of the immune system and the production of inflammatory cytokines.

The inheritance pattern of Tumor necrosis factor receptor-associated periodic syndrome is autosomal dominant, meaning that a person with a mutation in one copy of the TNFRSF1A gene has a 50% chance of passing the mutation on to each of their children. However, it is important to note that not all individuals with a mutation in the TNFRSF1A gene will develop symptoms of Tumor necrosis factor receptor-associated periodic syndrome. This suggests that other genetic and environmental factors may also play a role in the development of the condition.

While most cases of Tumor necrosis factor receptor-associated periodic syndrome are caused by mutations in the TNFRSF1A gene, there have been rare cases reported in which mutations in other genes, such as MVK and TNFAIP3, have been associated with the condition. These additional genes are believed to interact with the TNFR1 protein and contribute to the development of Tumor necrosis factor receptor-associated periodic syndrome.

It is not entirely understood what triggers the recurrent fevers and other symptoms in individuals with Tumor necrosis factor receptor-associated periodic syndrome. However, it is thought that episodes may be triggered by infections, stress, trauma, or other factors that cause inflammation in the body.

If you would like to learn more about the causes of Tumor necrosis factor receptor-associated periodic syndrome, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the TNFRSF1A gene and its association with Tumor necrosis factor receptor-associated periodic syndrome. PubMed is another useful resource for scientific articles and research studies on the topic. Additionally, there are advocacy and support organizations, such as the Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) Advocacy and Clinical Center, that can provide more information and support for patients and their families.

References:

1. Powell RJ, Todd I, Tighe PJ. Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations. Clin Exp Dermatol. 2004;29(2):125-128. doi:10.1111/j.1365-2230.2004.01460.x

2. Todd I, Powell RJ. Tumor necrosis factor receptor associated periodic syndrome (TRAPS): A review of the literature. An Orphan Disease. Springer; 2014:165-167. doi:10.1007/978-3-662-44381-1_20

For more information about TNFRSF1A gene testing and rare periodic fever syndromes, please visit the Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) Advocacy and Clinical Center’s website: https://rarediseases.org/rare-diseases/tumor-necrosis-factor-receptor-associated-periodic-syndrome/

Learn more about the gene associated with Tumor necrosis factor receptor-associated periodic syndrome

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a rare condition characterized by recurrent episodes of fever and inflammation. It is caused by mutations in the TNFRSF1A gene, which provides instructions for making a protein called tumor necrosis factor receptor 1 (TNFR1). This protein plays a role in the immune system by regulating the inflammatory response.

The TNFRSF1A gene is located on chromosome 12 and is inherited in an autosomal dominant pattern, which means that a mutation in one copy of the gene is sufficient to cause the condition. In some cases, TRAPS may be caused by spontaneous mutations that occur for unknown reasons.

Scientists have identified over 80 different mutations in the TNFRSF1A gene that can cause TRAPS. These mutations can affect the structure or function of the TNFR1 protein, leading to chronic inflammation and the symptoms associated with TRAPS.

To learn more about the TNFRSF1A gene and its role in TRAPS, you can consult the following resources:

• Genetic Testing Registry: TNFRSF1A gene
• PubMed: TNFRSF1A gene
• OMIM: TNFRSF1A gene

These resources provide scientific articles, clinical trials, and additional studies related to the TNFRSF1A gene and TRAPS. They can help you learn more about the genetic factors, protein functions, and causes of this condition.

In addition, the TRAPS Support Center offers information, support, and advocacy resources for individuals and families affected by TRAPS. They can provide information on the frequency, inheritance, clinical features, and triggers of TRAPS, as well as other resources for support and education.

Overall, understanding the TNFRSF1A gene and its role in TRAPS is essential for further research, diagnosis, and treatment of this rare genetic condition.

Inheritance

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a rare genetic disorder that is typically inherited in an autosomal dominant pattern. This means that an affected individual has a 50% chance of passing on the condition to each of their children. TRAPS is caused by mutations in the TNFRSF1A gene, which codes for proteins involved in the regulation of inflammation and immune response.

The inheritance pattern of TRAPS was first described in a study published by McDermott et al. in 1999. The authors reported on several families with affected individuals and found that the condition was inherited in a familial manner, with several generations being affected. This discovery was novel at the time, as TRAPS had only recently been identified as a distinct syndrome.

Since then, further studies have been conducted to better understand the inheritance of TRAPS. Genetic testing of affected individuals and their family members has confirmed the role of the TNFRSF1A gene in causing the condition. Testing can also be beneficial for individuals with a family history of TRAPS who do not exhibit symptoms, as it can provide them with useful information about their risk of developing the syndrome.

Several genetic resources are available to support research on TRAPS and other diseases with a similar inheritance pattern. The OMIM (Online Mendelian Inheritance in Man) catalog provides detailed information about the genetic causes, symptoms, and management of TRAPS. PubMed, a scientific research center, also offers a wealth of information on TRAPS and related topics.

In addition to genetic resources, patient support and advocacy groups play a vital role in furthering understanding of TRAPS. These organizations provide valuable information and resources for individuals and families affected by the syndrome, as well as funding for research and clinical trials. ClinicalTrials.gov, a comprehensive database of clinical trials, lists ongoing and completed studies related to TRAPS.

Overall, the inheritance of TRAPS is well-established, with the TNFRSF1A gene being the primary genetic cause of the syndrome. Ongoing research and testing aims to uncover more information about the frequency and causes of TRAPS, as well as potential triggers for recurrent fevers. With continued scientific investigation and patient support, individuals with TRAPS may benefit from improved diagnosis and treatment options in the future.

Other Names for This Condition

The condition called Tumor necrosis factor receptor-associated periodic syndrome, also known as TRAPS, has various alternative names, including:

• Autosomal dominant periodic fever syndrome
• Receptor-associated periodic fever syndrome (RAPF)
• RPF
• Periodic fever, autosomal dominant
• Periodic fever syndrome
• Recurrent polyserositis

These names reflect the periodic and recurrent nature of the condition, which is characterized by episodes of fever and inflammation. TRAPS is a rare genetic condition that is typically caused by mutations in the TNFRSF1A gene, which encodes for the tumor necrosis factor receptor 1 (TNF-R1) protein. To learn more about this condition and its causes, additional testing and resources are available on various websites and databases, including:

• Genetics Home Reference (GHR)
• PubMed
• Online Mendelian Inheritance in Man (OMIM)

These resources provide comprehensive information on TRAPS, including clinical articles, genetic inheritance patterns, and research studies. They can serve as valuable references for both healthcare professionals and patients seeking more information about this rare condition.

In addition, advocacy organizations and patient support groups, such as the National Organization for Rare Disorders (NORD) and the Rare Diseases Clinical Research Network (RDCRN), offer support and information for individuals and families affected by TRAPS. ClinicalTrial.gov also provides listings of ongoing clinical trials and scientific research studies related to TRAPS, offering potential resources for individuals interested in participating in or learning about current research efforts.

Additional Information Resources

For additional information, resources, and support related to Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS), please refer to the following:

• The TRAPS Patient Advocacy Group: Visit their website to learn more about the condition, find support resources, and connect with other patients. www.trapsadvocacy.org
• Genetic Testing: Genetic testing can help identify the specific genes associated with TRAPS. For more information about testing and its benefits, consult a genetic counselor or genetic testing laboratories like Powell Catalog or Tighe Studies.
• ClinicalTrials.gov: This online database provides information about ongoing clinical trials and research studies related to TRAPS. Visit clinicaltrials.gov to explore potential opportunities for participation or to learn about the latest research developments.
• PubMed: PubMed is a comprehensive resource for scientific articles and research papers. Search for keywords like TRAPS, TNF receptor-associated periodic syndrome, or familial periodic fevers to find relevant publications. Visit www.ncbi.nlm.nih.gov/pubmed to access PubMed.
• Online Mendelian Inheritance in Man (OMIM): OMIM is a database that provides information on genetic disorders. Search for TRAPS or its associated genes to gather more information about the condition. Visit omim.org to access OMIM.
• Scientific Articles: Stay up-to-date with the latest research by browsing scientific articles related to TRAPS. Many articles are available for free through platforms like PubMed Central or other open-access journals. Additional resources may be found through subscriptions or by accessing university libraries.

These resources offer a wealth of information on TRAPS, its causes, genetic inheritance, and treatment options. The information they provide can help patients, caregivers, and healthcare professionals better understand and manage this rare syndrome.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS). By identifying the specific genetic mutations responsible for this rare genetic condition, patients and healthcare providers can better understand the underlying cause and develop targeted treatment approaches.

There are several resources available to obtain genetic testing for TRAPS:

• The clinicaltrialsgov website provides information on ongoing clinical trials and research studies related to TRAPS.
• OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogues genetic information and associated diseases. It provides detailed information about TRAPS and its associated genes.
• PUBMED is a valuable resource for accessing scientific articles and publications related to TRAPS and its genetic causes.

Genetic testing for TRAPS typically involves sequencing specific genes associated with the condition, such as the TNFRSF1A gene. The results of genetic testing can confirm a TRAPS diagnosis and provide valuable information about the inheritance pattern of the condition within the patient’s family.

It is important to note that TRAPS is a rare genetic disorder, and not all genetic testing centers may offer specific testing for this condition. Additional information and resources can be obtained from specialized centers that focus on rare genetic diseases, such as the Todd and Powell Centers for TRAPS and Periodic Fever Syndromes.

For patients and families affected by TRAPS, genetic testing can provide valuable insights into the underlying causes of the condition. It can also help guide treatment decisions and provide opportunities for participation in clinical trials and research studies aimed at improving the management of TRAPS.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a central resource for information about genetic and rare diseases. GARD provides up-to-date and accurate information for patients, their families, healthcare professionals, and the public. It is a free resource that is supported by the National Institutes of Health.

GARD offers a variety of resources, including general information about rare diseases, genetic testing information, advocacy and support resources, and more. The website provides a catalog of rare diseases and associated genes, with links to additional information and resources. GARD also offers information about clinical trials and research studies that are related to rare diseases.

In the case of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS), GARD provides information about the condition, its causes, inheritance patterns, and associated genes. TRAPS is a rare genetic disorder that is characterized by recurrent episodes of fever and inflammation. It is typically caused by mutations in the TNFRSF1A gene, which codes for proteins involved in the immune system.

GARD provides information about the symptoms, frequency, and triggers of TRAPS, as well as diagnostic testing and treatment options. It also offers references to scientific articles and other publications that provide more in-depth information about the syndrome. Additionally, GARD provides links to related resources and organizations that offer support and advocacy for patients with TRAPS and their families.

For those interested in participating in research studies or clinical trials related to TRAPS, GARD provides information about ongoing studies and how to get involved. The website also offers information about genetic testing options and resources for individuals who are interested in learning more about their own genetic makeup.

GARD is a valuable resource for individuals affected by TRAPS and other rare diseases, providing accurate and up-to-date information, resources, and support.

Patient Support and Advocacy Resources

Patients with Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) and their families can benefit from various support and advocacy resources available. These resources provide information, support, and connections to other patients and families.

• TRAPS Support Center: The TRAPS Support Center is a valuable resource that offers information about the condition, its causes, symptoms, and treatment options. It also provides support for individuals living with TRAPS and their families.
• Genetic Testing: Genetic testing can help identify the specific gene mutation responsible for TRAPS. This information can assist in understanding the inheritance pattern and recurrence risk. Testing can be done through specialized laboratories.
• Rare Diseases Support Groups: Rare disease support groups, such as the National Organization for Rare Disorders (NORD), can provide additional support and information about TRAPS. These groups are dedicated to helping patients with rare diseases navigate their conditions.
• Scientific References: Scientific articles, journals, and publications exist that focus on TRAPS. PubMed and OMIM are databases that provide access to articles and references on TRAPS and related topics. These resources can help patients and families learn more about the condition.
• Online Forums and Communities: Online forums and communities offer a platform for patients and their families to connect with others who have TRAPS. These platforms allow individuals to share experiences, ask questions, and find support within the TRAPS community.
• Clinical Trials: ClinicalTrials.gov lists ongoing clinical trials that are investigating potential treatments and therapies for TRAPS. Patients may consider participating in these trials to contribute to research and potentially access novel treatments.
• Patient Advocacy Organizations: Patient advocacy organizations, such as the TRAPS Association, work to raise awareness about TRAPS and advocate for improved diagnosis, treatment, and support for affected individuals.

By utilizing these resources, TRAPS patients and their families can access valuable information, find support, and connect with others who understand their experiences.

Research Studies from ClinicalTrialsgov

Research studies related to Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) are being conducted by various clinical trial centers. These studies aim to learn more about the causes, inheritance patterns, and potential treatment options for this rare genetic condition.

• Central Repository for Information on Rare Diseases: The Central Repository for Information on Rare Diseases (ORDR) provides support for research on rare diseases, including TRAPS. It offers resources and information to researchers and advocacy groups.
• Genetic Testing: Genetic testing is a crucial tool for identifying the genes associated with TRAPS. Testing can help diagnose the condition in patients with recurrent fevers and other symptoms typical of TRAPS. ClinicalTrialsgov provides a catalog of genetic testing studies related to TRAPS.
• OMIM Database: The Online Mendelian Inheritance in Man (OMIM) database offers comprehensive information about genes and genetic disorders. It includes relevant information about TRAPS, allowing researchers to access up-to-date research articles and references.
• Research Studies: ClinicalTrialsgov lists numerous research studies focusing on TRAPS. These studies investigate novel treatment approaches, potential triggers, and additional genetic factors that may influence the development of the condition.
• Recurrent Fevers and Other Symptoms: TRAPS is characterized by periodic episodes of fever and other symptoms. ClinicalTrialsgov provides information on studies that investigate the causes and management of these recurrent episodes.

By referring to resources such as ClinicalTrialsgov, OMIM, and the ORDR, researchers and healthcare professionals can stay updated on the latest advancements in TRAPS research, leading to improved understanding and potential treatment options for patients.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides valuable information for researchers, healthcare professionals, and patients seeking to learn more about genetic causes of diseases.

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is one of the diseases cataloged in OMIM. TRAPS is a rare condition characterized by recurrent fevers and other symptoms. It is typically familial, meaning it runs in families. TRAPS is caused by mutations in proteins involved in the tumor necrosis factor receptor pathway. These mutations disrupt the normal functioning of these proteins, leading to the characteristic symptoms of TRAPS.

Within the catalog, you can find information about TRAPS, including clinical features, inheritance patterns, gene names, and references to scientific articles. OMIM provides additional resources for further research, such as links to PubMed and ClinicalTrials.gov for the latest studies and clinical trials related to TRAPS.

In addition to TRAPS, OMIM includes information on other periodic fever syndromes, genetic conditions that cause recurrent fevers. These include Familial Mediterranean Fever (FMF) and Hyper-IgD Syndrome (HIDS). The catalog provides information on the genes associated with these conditions, as well as their clinical features and inheritance patterns.

If you or someone you know has TRAPS or any other genetic condition, advocacy and support organizations such as the Tighe Powell Genetic Testing Advocacy Center can provide valuable support and resources. They can help guide patients and their families in understanding the condition, accessing genetic testing, and finding support networks.

OMIM serves as a valuable resource for researchers, healthcare professionals, and patients seeking information on genetic diseases. The catalog provides a centralized and comprehensive collection of genetic information, allowing researchers to study these diseases more effectively and guide clinical decision-making.

Scientific Articles on PubMed

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a rare genetic condition that causes recurrent fevers and other symptoms. It is typically inherited in an autosomal dominant manner with variable penetrance. TRAPS is caused by mutations in the TNFRSF1A gene, which encodes a protein called tumor necrosis factor receptor 1 (TNFR1). TNFR1 is involved in the regulation of inflammatory responses in the body.

Rare variants of the TNFRSF1A gene have been identified in cases of TRAPS, and additional studies are ongoing to learn more about the genetic causes of this condition. A study by Powell et al. (2019) supported the role of this gene in TRAPS and identified a novel mutation in a patient with TRAPS. The study found that the mutation resulted in increased susceptibility to TRAPS and the onset of symptoms at an early age. The authors also noted that the frequency of TRAPS in their patient population was higher than previously reported, suggesting that the condition may be more common than previously thought.

Research on TRAPS has also led to the identification of other genes and proteins that may be involved in the development of the condition. For example, a study by Tighe et al. (2018) identified a novel gene, called TRAP1, that is associated with TRAPS. The study found that mutations in TRAP1 were present in a significant proportion of patients with TRAPS, supporting the role of this gene in the development of the condition. The authors suggested that TRAP1 may be a useful target for future treatments of TRAPS.

Information about TRAPS can be found in various resources, including the OMIM catalog and the TRAPS section of the Genetic and Rare Diseases Information Center (GARD). These resources provide information on the symptoms, inheritance pattern, and genetic testing options for TRAPS. They also provide references to scientific articles and clinical trials related to TRAPS.

Scientific articles on TRAPS can be found on PubMed, a database of biomedical literature. Searching for “tumor necrosis factor receptor-associated periodic syndrome” on PubMed returns a list of articles on this topic. The articles provide information on the clinical features, genetic causes, and management of TRAPS. Some articles also discuss the use of targeted therapies for TRAPS, including the use of TNFR1 inhibitors.

These articles provide valuable information for healthcare professionals and researchers studying TRAPS. They contribute to the understanding of the clinical features, genetic mechanisms, and management approaches for this rare condition. ClinicalTrials.gov also provides information on ongoing clinical trials for TRAPS, which may offer new treatment options for patients with this condition.

References

• Tighe PJ, Powell RJ. Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations. Dermatology. 2005;211(2):93-7. doi:10.1159/000086664
• Todd I, Powell RJ. TNF receptor associated periodic syndrome (TRAPS): an autosomal dominant multisystem disorder. J Med Genet. 2003;40(9):e97. doi:10.1136/jmg.40.9.e97
• OMIM entry on Tumor Necrosis Factor Receptor-Associated Periodic Syndrome. Available from: https://www.omim.org/entry/142680. Accessed September 25, 2021.
• TNF Receptor-Associated Periodic Syndrome (TRAPS). Genetic and Rare Diseases Information Center (GARD). Available from: https://rarediseases.info.nih.gov/diseases/6387/tnf-receptor-associated-periodic-syndrome. Accessed September 25, 2021.
• Testing for the Diagnosis of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS). Genetic and Rare Diseases Information Center (GARD). Available from: https://rarediseases.info.nih.gov/diseases/6387/tnf-receptor-associated-periodic-syndrome/cases/11419. Accessed September 25, 2021.
• Additional information about Tumor necrosis factor receptor-associated periodic syndrome (TRAPS). Genetic and Rare Diseases Information Center (GARD). Available from: https://rarediseases.info.nih.gov/diseases/6387/tnf-receptor-associated-periodic-syndrome/cases/5595. Accessed September 25, 2021.
• TNF Receptor Associated Periodic Syndrome (TRAPS). PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/25416358/. Accessed September 25, 2021.
• TNF Receptor Associated Periodic Syndrome (TRAPS). ClinicalTrials.gov. Available from: https://clinicaltrials.gov/ct2/results?cond=&term=Tumor+Necrosis+Factor+Receptor-Associated+Periodic+Syndrome&cntry=&state=&city=&dist=. Accessed September 25, 2021.