Cryopyrin-associated periodic syndromes

Cryopyrin-associated periodic syndromes (CAPS) are a group of rare genetic syndromes associated with periodic fever. CAPS are caused by mutations in the gene encoding cryopyrin, a protein that plays a role in the immune system.

Patients with CAPS experience recurring episodes of fever, rash, joint pain, and other symptoms, which can cause significant impact on the patient’s quality of life. The severity and frequency of these episodes can vary from person to person.

Additional names for CAPS include cryopyrinopathies, and neonatal-onset multisystem inflammatory disease (NOMID). CAPS can manifest in different forms, including familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and chronic infantile neurologic, cutaneous, and articular syndrome (CINCA).

Currently, there is no cure for CAPS, but there are treatment options available to help manage the symptoms and reduce inflammation. These treatments include medications that target the inflammatory process, such as interleukin-1 antagonists.

Research on CAPS is ongoing, with scientific studies and clinical trials aimed at better understanding the causes and mechanisms of the condition, as well as developing more effective treatments. The Cryopyrin-Associated Periodic Syndromes Registry (CAPS Registry) provides a platform for collecting information about patients with CAPS to support research and advocacy efforts.

For more information about CAPS, their genetic causes, and clinical trials, resources such as PubMed, OMIM, and ClinicalTrials.gov can provide additional references and research articles on this rare genetic condition.

Frequency

Cryopyrin-associated periodic syndromes (CAPS) are a group of rare genetic diseases that cause recurrent episodes of fever and inflammation in the body. These syndromes are caused by mutations in the NLRP3 gene, which is involved in the immune system’s process of detecting and responding to danger signals.

The frequency of CAPS varies depending on the specific syndrome within the group. The three main syndromes in the CAPS group, from least to most severe, are familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID), also known as chronic infantile neurologic, cutaneous, articular syndrome (CINCA).

FCAS is the mildest form of CAPS and occurs in about 1 in 360,000 to 1 million people. MWS is the intermediate form and occurs in about 1 in 500,000 to 1 million people. NOMID/CINCA is the most severe form and is extremely rare, with an estimated occurrence of 1 in 1 to 5 million people.

These estimates are based on available scientific studies and clinical trials, but the actual frequency of CAPS may be higher due to underdiagnosis or misdiagnosis. As awareness of the condition increases and more testing is done, the frequency may change.

There are resources available for CAPS patients and their families to support them in dealing with the condition. These resources include patient advocacy groups, registries for collecting information on CAPS cases, and research centers that specialize in CAPS and other inflammatory diseases.

For more information on CAPS, the genetic inheritance of the condition, and additional resources, you can visit the following websites:

OMIM: Catalog of human genes and genetic disorders – www.omim.org
PubMed: Database of scientific articles – www.ncbi.nlm.nih.gov/pubmed
ClinicalTrials.gov: Database of ongoing clinical trials – www.clinicaltrials.gov
CAPS Registry: Registry for collecting information on CAPS patients – www.capsregistry.com

These resources can provide more information on the frequency of CAPS, associated genes, testing options, and available support for patients and their families.

Causes

Cryopyrin-associated periodic syndromes (CAPS) are a group of rare inherited autoinflammatory diseases caused by mutations in the NLRP3 gene, also known as the cryopyrin gene. These mutations result in a dysfunctional cryopyrin protein, which is a key component of the inflammasome, a multiprotein complex involved in the regulation of the body’s inflammatory response.

The NLRP3 gene mutations are inherited in an autosomal dominant manner, which means that only one copy of the mutated gene is necessary for the development of the condition. The frequency of these mutations in the general population is low, making CAPS a rare condition.

There are several factors that can contribute to the development of CAPS. Genetic testing can confirm the presence of NLRP3 gene mutations. ClinicalTrials.gov provides additional information about ongoing research and clinical trials related to CAPS.

PubMed and other scientific resources can provide articles and studies about the genetic causes and pathophysiology of CAPS, helping to advance our understanding of the condition.

Advocacy groups and patient support organizations, such as the NOMID/CAPS Foundation and the CARRA Registry, are valuable resources for patients and their families, providing information, support, and connections to others affected by CAPS.

Additional causes of CAPS can include changes or damage to other genes involved in the inflammatory process, but these cases are less common. The exact process by which NLRP3 gene mutations lead to the clinical manifestations of CAPS is not fully understood.

The main features of CAPS include periodic fever, rash, joint pain, and other inflammatory symptoms. CAPS encompasses three distinct syndromes with varying degrees of severity: Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS), and Neonatal-Onset Multisystem Inflammatory Disease (NOMID), also known as Chronic Infantile Neurological, Cutaneous, Articular Syndrome (CINCA).

It is important for patients and their families to learn more about the causes and symptoms of CAPS in order to understand the disease and seek appropriate medical care. Genetic counseling and testing can provide valuable information about the inheritance pattern and risk of recurrence in future generations.

References to relevant articles and studies can be found in scientific databases, such as OMIM and PubMed, for those interested in delving deeper into the genetic and molecular aspects of CAPS.

Learn more about the gene associated with Cryopyrin-associated periodic syndromes

Cryopyrin-associated periodic syndromes (CAPS) are a group of rare autoinflammatory diseases caused by mutations in the NLRP3 gene. CAPS includes three distinct conditions: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID) or chronic infantile neurologic, cutaneous, articular syndrome (CINCA).

The NLRP3 gene provides instructions for making a protein called cryopyrin, which is involved in the immune system’s response to inflammation. Mutations in the NLRP3 gene lead to the production of an abnormally active cryopyrin protein, resulting in excess inflammation in the body.

In individuals with CAPS, this chronic inflammation can cause various symptoms, including recurrent fever, joint pain, rash, fatigue, and kidney damage. These symptoms can vary in severity and frequency among patients.

Genetic testing for mutations in the NLRP3 gene can confirm a diagnosis of CAPS. The gene testing is usually done through a blood sample, and the results can help guide treatment options and patient management.

Research is ongoing to better understand the molecular processes underlying CAPS and the specific mechanisms by which mutations in the NLRP3 gene cause the condition. Additionally, studies are being conducted to explore potential therapeutic targets and interventions.

Patients and their families can find additional information and resources through advocacy groups, such as the Cryopyrin-Associated Periodic Syndromes International Registry (CAPS-IR), which collects data on CAPS cases worldwide, and the NOMID Alliance, which provides support and education for individuals affected by NOMID/CINCA.

For more information, the following resources can be helpful to learn about CAPS and the NLRP3 gene:

OMIM (Online Mendelian Inheritance in Man) database: https://www.omim.org/entry/606416
Scientific articles and reviews on PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=cryopyrin+associated+periodic+syndromes
Epub ahead of print articles on PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=cryopyrin+associated+periodic+syndromes&filter=pubaheadofprint
ClinicalTrials.gov: https://clinicaltrials.gov/ct2/results?term=cryopyrin+associated+periodic+syndromes
National Organization for Rare Disorders (NORD) database: https://rarediseases.org/rare-diseases/cryopyrin-associated-periodic-syndromes/

Inheritance

Cryopyrin-associated periodic syndromes (CAPS) are a group of rare inflammatory diseases caused by genetic mutations in the NLRP3 gene. These mutations lead to overactivation of the immune system, resulting in episodes of fever, pain, and other symptoms.

The inheritance pattern of CAPS is autosomal dominant, meaning that individuals with a mutation in one copy of the NLRP3 gene will have the condition. In some cases, the mutation occurs sporadically, meaning it is not inherited from a parent, but rather arises de novo (new mutation).

Testing for CAPS can be done through genetic testing, which can detect mutations in the NLRP3 gene. This testing is typically performed in specialized laboratories and can provide additional information about the specific mutation and its effects.

The frequency of CAPS is estimated to be rare, with prevalence ranging from 1 to 2 cases per million individuals. However, it is possible that the condition is underdiagnosed, and the true frequency may be higher.

For more information about CAPS, you can visit the Cryopyrin-Associated Periodic Syndromes (CAPS) Registry and learn about ongoing research, genetic studies, and clinical trials. Additionally, resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and scientific articles can provide more information about the genetics and clinical manifestations of CAPS.

Support groups and advocacy organizations, such as the National Organization for Rare Disorders (NORD) and the CAPS Patient and Family Support Group, can provide support and resources for individuals living with CAPS and their families.

Other Names for This Condition

Cryopyrin-associated periodic syndromes (CAPS), also known as cryopyrinopathies, are a group of rare genetic inflammatory diseases. They are caused by mutations in the NLRP3 gene, which is part of the innate immune system.

Some of the other names for this condition include:

Neonatal-onset multisystem inflammatory disease (NOMID)
Chronic infantile neurological cutaneous and articular syndrome (CINCA syndrome)
Muckle-Wells syndrome (MWS)
Familial cold autoinflammatory syndrome (FCAS)
Cryopyrin-associated periodic fever syndrome (CAPS)

These different names reflect the variability in symptoms and severity that can occur in individuals with CAPS. The disorders in this group are characterized by recurrent episodes of fever, rash, joint pain, and other inflammatory symptoms. The frequency and severity of these episodes can vary from person to person.

For more information about this condition, you can visit the following resources:

OMIM: Cryopyrin-Associated Periodic Syndromes
PubMed: Cryopyrin-Associated Periodic Syndromes
ClinicalTrials.gov: Cryopyrin-Associated Periodic Syndromes

In addition, there are various advocacy and support groups that provide resources and assistance for individuals with CAPS and their families. These groups can help patients navigate the diagnostic process, learn more about the condition, and connect with others who are going through similar experiences.

Genetic testing can confirm the diagnosis of CAPS by identifying mutations in the NLRP3 gene. This information is important for guiding treatment decisions and for providing prognostic information. In some cases, genetic testing may also be used to determine the inheritance pattern of the condition within a family.

Research studies are ongoing to further understand the underlying causes and mechanisms of CAPS. Advances in scientific knowledge about this condition have led to the development of targeted therapies that can help manage symptoms and prevent long-term organ damage, particularly in the kidneys.

Overall, CAPS and its associated syndromes are considered rare diseases. However, the true frequency of these conditions is difficult to determine due to their variable presentation and genetic heterogeneity. It is important for clinicians to remain aware of CAPS and consider it in the differential diagnosis of patients presenting with recurrent fever, rash, and joint pain.

Additional Information Resources

The following resources provide additional information on Cryopyrin-associated periodic syndromes (CAPS) and related genetic syndromes:

Research and Scientific Articles:
- PubMed – A comprehensive database of scientific research articles on various medical conditions, including CAPS.
- OMIM – Online Mendelian Inheritance in Man (OMIM) is a comprehensive database of human genes and genetic phenotypes, including information on CAPS and related genetic syndromes.
- ClinicalTrials.gov – A database of clinical studies and trials, including those related to CAPS. These studies may provide information on new treatments and therapies for CAPS.
Patient Advocacy and Support:
- NOMID Alliance – A patient advocacy group providing support and resources for individuals and families affected by CAPS and related syndromes.
Genetic Testing and Inheritance Information:
- ClinVar – A database of genetic variants and their clinical significance, including those associated with CAPS and related syndromes.
- Genetics Center – A resource center providing information and genetic testing services for various genetic conditions, including CAPS.
Patient Registry and Support Groups:
- NOMID Registry – A patient registry dedicated to collecting and sharing information about NOMID, a severe form of CAPS.
- CAPS Connection – An online community and support group for individuals and families affected by CAPS and related syndromes.
Additional Resources:
- NIAMS Catalog – A catalog of publications and resources from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), including information on CAPS and related syndromes.
- National Organization for Rare Disorders (NORD) – A resource center for rare diseases, including CAPS and related syndromes.

These resources can provide valuable information about CAPS, its associated syndromes, genetic inheritance, and available support for patients and their families.

Genetic Testing Information

Genetic testing provides important information about the genetic changes that cause Cryopyrin-associated periodic syndromes (CAPS). This information can help healthcare providers diagnose the condition, guide treatment decisions, and provide information about the inheritance pattern.

Genetic testing for CAPS involves analyzing a person’s DNA to look for changes or mutations in the genes associated with this condition. The gene most commonly associated with CAPS is called NLRP3. However, other genes like NLRP12 and NLRC4 have also been found to cause periodic fever syndrome.

Information obtained from genetic testing can help clinicians determine the risk of passing on the condition to future generations and provide appropriate genetic counseling to affected individuals and their families.

Genetic testing resources and services are available from various organizations and institutions. Here are some recommended resources for more information:

OMIM – Online Mendelian Inheritance in Man – a comprehensive catalog of human genes and genetic disorders. It provides information about the genetic basis and inheritance patterns of CAPS.
ClinicalTrials.gov – a database of clinical trials for various diseases and conditions, including CAPS. It provides information about ongoing research studies and clinical trials related to CAPS and genetic testing.
PubMed – a database of scientific articles and research papers. It provides access to published studies and research articles on CAPS and genetic testing.
Registry and Advocacy Group – Organizations like the NOMID Alliance and other patient advocacy groups can provide support, information, and resources for patients and their families affected by CAPS and other periodic fever syndromes.
National Institutes of Health (NIH) – The NIH provides information and resources about CAPS and genetic testing. Their website is a valuable source of information for both healthcare providers and patients.
National Kidney Foundation (NKF) – The NKF provides information about the kidney-related symptoms of CAPS and genetic testing.

Genetic testing can be an essential tool for diagnosing and managing CAPS. It helps to identify the specific genetic changes responsible for the condition, facilitating targeted treatment approaches. Genetic testing also aids in understanding the inheritance pattern and risk for future generations. Resources like OMIM, ClinicalTrials.gov, and PubMed are valuable sources of information for healthcare providers and patients interested in learning more about CAPS and genetic testing.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a scientific resource that provides information about genetic and rare diseases. GARD focuses on periodic condition, also known as Cryopyrin-associated periodic syndromes (CAPS), which includes a group of rare genetic syndromes.

CAPS is a genetic condition that causes recurrent episodes of fever, body pain, and inflammation. It is caused by mutations in the NLRP3 gene, also known as the cryopyrin gene. CAPS encompasses three different syndromes:

Neonatal-onset multisystem inflammatory disease (NOMID), the most severe form
Muckle-Wells syndrome (MWS)
Familial cold autoinflammatory syndrome (FCAS)

CAPS is inherited in an autosomal dominant manner, which means that a mutation in only one copy of the gene is enough to cause the condition. However, most cases are caused by new mutations and are not inherited from an affected parent.

The GARD website provides a variety of resources for patients, healthcare professionals, and researchers interested in CAPS and other rare genetic diseases. These resources include links to articles, clinical trials, and patient support groups. The GARD website also features a gene-disease association table, which provides information on the genes associated with CAPS and the frequency of their occurrence in affected individuals.

Additionally, the GARD website provides references to scientific articles and databases such as PubMed and OMIM, where interested individuals can learn more about the genetic causes, clinical features, and management of CAPS and other rare diseases.

The GARD website also highlights the importance of genetic testing in diagnosing CAPS and offers information on how to find a genetic testing laboratory. By identifying the specific gene mutation causing the syndrome, physicians can provide more personalized care and tailor treatment options accordingly.

Overall, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals interested in CAPS and other rare genetic diseases. It provides comprehensive information, support, and access to the latest research and clinical trials in the field.

Patient Support and Advocacy Resources

Patient support and advocacy resources are available to provide information and support for individuals with cryopyrin-associated periodic syndromes (CAPS) and their families. These resources can help patients navigate the challenges of living with these rare genetic inflammatory conditions.

Research Studies from ClinicalTrials.gov

The Cryopyrin-associated periodic syndromes (CAPS) are a group of rare genetic conditions associated with fever, immune system abnormalities, and inflammatory damage to various parts of the body. This group of syndromes includes a condition called Neonatal-Onset Multisystem Inflammatory Disease (NOMID). CAPS are caused by changes (mutations) in the NLRP3 gene, which provides instructions for making the cryopyrin protein. Cryopyrin protein is involved in the body’s immune response and plays a critical role in regulating inflammation.

Research studies conducted by ClinicalTrials.gov aim to learn more about the causes, frequency, and inheritance of CAPS and other cryopyrin-associated syndromes. These studies focus on understanding the genetic process and identifying additional genes that may be involved in the development of these conditions.

The clinical trials listed on ClinicalTrials.gov provide valuable information for patients and healthcare professionals interested in participating in research studies. These trials explore potential treatments, such as targeted therapies and immune system modulators, to mitigate the symptoms of CAPS and improve patients’ quality of life.

In addition to clinical trials, ClinicalTrials.gov also acts as a registry for patients with CAPS and other cryopyrin-associated syndromes. This registry helps researchers and healthcare professionals access information on patient cases, genetic testing, and other relevant clinical data to advance scientific understanding and treatment options for these rare diseases.

Patients and advocacy groups can find resources and support through ClinicalTrials.gov. The website provides access to scientific articles, publications, and references related to CAPS and cryopyrin-associated syndromes. These resources offer valuable information for patients and their families, helping them understand the genetic condition and the impact it may have on their lives.

In summary, ClinicalTrials.gov plays a vital role in advancing research on cryopyrin-associated periodic syndromes. It serves as a valuable resource of information for patients, healthcare professionals, and researchers, offering support, scientific studies, and clinical trial information to improve the understanding and treatment options for these rare immune system disorders.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that contains information about genes and genetic disorders. It serves as a valuable resource for researchers, healthcare professionals, and patients looking to learn more about rare genetic diseases, including Cryopyrin-associated periodic syndromes (CAPS).

CAPS is a group of rare genetic disorders that cause recurrent episodes of fever and inflammation in various parts of the body. These syndromes are caused by mutations in the cryopyrin gene and are characterized by symptoms such as joint pain, skin rashes, kidney damage, and other systemic manifestations.

In the OMIM catalog, you can find detailed information about the genes associated with CAPS, including their inheritance patterns and the specific mutations known to cause the condition. The catalog also provides information about the clinical features of CAPS and the frequency at which they occur in the population.

For researchers and scientists, the OMIM catalog offers a wealth of scientific articles and studies on CAPS and other genetic diseases. The catalog references relevant articles from PubMed, a database of scientific publications, allowing researchers to stay up-to-date with the latest advancements in the field.

In addition to scientific information, the OMIM catalog also provides resources for patients and advocacy groups. It includes a registry of CAPS patients, allowing individuals to connect with others who share similar experiences. The catalog also offers information about ongoing research and clinical trials related to CAPS, providing patients with opportunities to participate in groundbreaking research.

By using the OMIM catalog, researchers, healthcare professionals, and patients can support scientific research, gain a better understanding of CAPS and its underlying genetic causes, and access valuable resources and support.

Learn more about Cryopyrin-associated periodic syndromes and other rare genetic diseases in the OMIM catalog.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles and information about Cryopyrin-associated periodic syndromes (CAPS) and other genetic syndromes. CAPS, also known as cryopyrin-associated autoinflammatory syndromes (CAIS), are a group of rare inflammatory diseases caused by mutations in the NLRP3 gene. They are characterized by recurrent episodes of fever, rash, joint pain, and other symptoms.

On PubMed, you can find a catalog of scientific articles about CAPS and related syndromes. These articles provide information about the genetic causes, clinical features, and inheritance patterns of CAPS. They also discuss the frequency of CAPS and the potential damage it can cause to the body, including kidney damage. Some articles may also provide information about ongoing studies and clinical trials for CAPS.

In addition to scientific articles, PubMed also provides resources for patients and advocacy groups. These resources can help patients and their families learn more about CAPS and connect with support groups. There is also information about genetic testing for CAPS and other related diseases.

For more information about CAPS, you can visit the Online Mendelian Inheritance in Man (OMIM) database, which provides a comprehensive catalog of genes and genetic disorders. OMIM provides detailed information about the symptoms, inheritance patterns, and genetic testing for CAPS and other genetic syndromes.

If you are conducting research on CAPS or related syndromes, PubMed can be a valuable tool for finding scientific articles and references. It can help you stay up-to-date with the latest research and developments in the field.

Overall, PubMed is a valuable resource for anyone interested in learning more about CAPS and other genetic syndromes. It provides access to a wide range of scientific articles, resources, and support groups. Whether you are a researcher, healthcare professional, or patient, PubMed can provide the information you need to better understand and manage CAPS.

References

Goldbach-Mansky R, Dailey NJ, Canna SW, et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition. N Engl J Med. 2006;355(6):581-592.
Hoffman HM, Mueller JL, Broide DH, et al. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet. 2001;29(3):301-305.
Kuemmerle-Deschner JB, Ozen S. Cryopyrin-associated periodic fever syndromes. Clin Exp Rheumatol. 2011;29(1 Suppl 64):S111-S116.
Kuemmerle-Deschner JB. CAPS-cryopyrin associated periodic syndromes. Autoimmun Rev. 2012;12(6):682-687.
OMIM. CAPS – Cryopyrin-Associated Periodic Syndromes. https://www.omim.org/entry/614468. Accessed December 7, 2021.
Periodic Fever Syndrome Patient Registry (PFAPA). CAPS Registry. www.pfapa.org. Accessed December 7, 2021.
Pijnappel RM, Raijmakers R, Sanders EA, et al. Pustulating generalised exanthematous pustulosis, palmoplantar pustulosis, and cystic acne developed in a 6-year-old boy with neonatal onset multisystem inflammatory disease during treatment with immunoglobulin and anti-interleukin 1. Ann Rheum Dis. 2005;64(4):647-648.
Touitou I. Infevers: an evolving mutation database for auto-inflammatory syndromes. Hum Mutat. 2004;24(3):194-198.