The NLRP3 gene, also known as the cryopyrin-associated periodic syndromes (CAPS) gene, is listed in various scientific databases such as OMIM, Pubmed, and the Genetic Testing Registry. It codes for the NLRP3 protein, which is a component of the NLRP3 inflammasome. The NLRP3 inflammasome is a multiprotein complex involved in the activation of inflammatory responses in the body.
CAPs are a group of autoinflammatory diseases caused by mutations in the NLRP3 gene. These mutations result in changes in the NLRP3 protein, leading to abnormal activation of the inflammasome and an excessive inflammatory response. CAPs include various conditions, such as neonatal-onset multisystem inflammatory disease (NOMID), familial cold autoinflammatory syndrome (FCAS), and Muckle-Wells syndrome (MWS).
Genetic testing can be used to identify mutations in the NLRP3 gene and confirm a diagnosis for CAPs. This involves analyzing the DNA of an individual to detect any changes or variants in the gene. Testing for NLRP3 mutations can be done in specialized laboratories and is usually recommended for individuals with symptoms suggestive of CAPs.
In addition to genetic testing, other diagnostic tests and procedures, such as periodic health check-ups, can be used to monitor the progression of the disease and assess the effectiveness of treatment. The NLRP3 gene and related proteins are the subject of ongoing scientific research, and many articles and references can be found in various scientific databases like Pubmed.
Overall, the NLRP3 gene plays a crucial role in the development and regulation of the inflammatory response. Mutations in this gene can lead to the development of CAPs and related conditions. Understanding the function and variations of the NLRP3 gene is important in the diagnosis, treatment, and management of CAPs and associated syndromes.
Health Conditions Related to Genetic Changes
Genetic changes, also known as variants, can cause various health conditions. Listed below are some of the conditions that can occur due to genetic changes in the NLRP3 gene.
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Cryopyrin-Associated Periodic Syndromes (CAPS)
- Cryopyrin-Associated Periodic Syndromes (CAPS) are a group of rare autoinflammatory disorders.
- CAPs include familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID).
- Genetic changes in the NLRP3 gene can cause these syndromes.
- These syndromes are characterized by recurrent episodes of inflammation, fever, skin rash, joint pain, and other symptoms.
Additional Health Conditions Related to NLRP3 Gene
- Other health conditions related to genetic changes in the NLRP3 gene may also exist.
- For more information on these conditions, you can refer to resources such as PubMed, ClinVar, and OMIM databases.
- Citation of scientific articles and research papers can provide additional information on genetic changes and associated health conditions.
- Genetic testing of the NLRP3 gene can be done to identify variants that may cause these health conditions.
- Testing for the NLRP3 gene can be performed by specialized laboratories and genetic testing companies.
- References and registry information containing the names of genes and associated health conditions can be found in the OMIM catalog and other resources.
It is important to consult with healthcare professionals for proper diagnosis and management of health conditions related to genetic changes.
Cryopyrin-associated periodic syndromes
Cryopyrin-associated periodic syndromes (CAPS) are a group of genetic diseases caused by changes in the NLRP3 gene, which codes for proteins related to the inflammasome.
CAPs include three distinct conditions: neonatal-onset multisystem inflammatory disease (NOMID), Muckle-Wells syndrome, and familial cold autoinflammatory syndrome.
Patients with CAPs experience recurrent episodes of inflammation, characterized by fever, rash, joint pain, and other systemic manifestations. These symptoms typically begin in infancy or early childhood and continue throughout life.
Diagnostic testing for CAPs includes genetic testing for variants in the NLRP3 gene. Other laboratory tests, such as blood tests to measure inflammatory markers, may also be performed to support the diagnosis. Clinical criteria, as listed in the CAPS Registry, can help guide diagnosis.
For additional information on CAPs, including clinical resources, genetic testing, and NLRP3 gene variant databases, refer to the CAPS Registry and other relevant scientific articles available on PubMed.
Here are some additional resources and references related to CAPs:
- CAPS Registry
- PubMed – search for “Cryopyrin-associated periodic syndromes”
- PubMed – search for “NLRP3 gene”
These resources can provide further information on the genetic basis, clinical presentation, and management of CAPs.
Other Names for This Gene
This gene is also known by the following names:
- CIAS1
- Cryopyrin
- CLR1.1
- loom1
- NALP3
- NLRP3 gene
- PYPAF1
- TRAPS
- CIAS1-like protein 1
- Clinical Hyper IgD Syndrome (HIDS)
- Muckle-Wells Syndrome (MWS)
- NOMID/CINCA
- Cryopyrin-Associated Periodic Syndromes (CAPS)
For more information on this gene, refer to the following resources:
- • Online Mendelian Inheritance in Man (OMIM) database
- • PubMed
- • Genetic Testing Registry
- • ClinicalTrials.gov
Additional Information Resources
- In scientific databases such as OMIM and PubMed, you can find additional information about the NLRP3 gene.
- OMIM provides information about the genetic changes, proteins, and other genes associated with NLRP3.
- In PubMed, you can find articles related to NLRP3 gene, including those discussing its role in periodic fever syndromes and other diseases.
- Health testing resources like ClinVar and GeneTests provide information on testing options for NLRP3 gene variants and related conditions.
- The NOMID Registry and Genetic and Rare Diseases Information Center (GARD) contain information about the cryopyrin-associated periodic syndromes (CAPS) and other genetic conditions caused by NLRP3 gene variants.
- For more detailed information, references, and citations on the NLRP3 gene, you can search these resources and databases.
Tests Listed in the Genetic Testing Registry
The NLRP3 gene, also known as cryopyrin, is associated with a number of diseases and syndromes. The Genetic Testing Registry (GTR) provides a comprehensive list of genetic tests related to the NLRP3 gene and its variants.
The GTR is a central database of genetic tests provided by various laboratories and institutions. It contains information on test names, health conditions, genetic changes, and other relevant information. The GTR is a valuable resource for clinicians and researchers seeking information on genetic tests related to the NLRP3 gene.
The GTR lists several tests for the NLRP3 gene, including tests for NLRP3-related conditions such as cryopyrin-associated periodic syndromes (CAPS) and neonatal-onset multisystem inflammatory disease (NOMID).
These tests can provide important information on genetic variants that may be causing the observed symptoms in patients. By identifying these variants, clinicians can better understand the underlying genetic basis of the disease and develop appropriate treatment plans.
The GTR also provides references to scientific articles, databases, and other resources that contain further information on the NLRP3 gene and related conditions. This can help researchers and clinicians stay up to date with the latest developments in the field.
In summary, the Genetic Testing Registry is a valuable tool for accessing information on genetic tests related to the NLRP3 gene. It provides a comprehensive list of tests for NLRP3-related conditions and references to additional resources for further information.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to genetic conditions and diseases. In the context of the NLRP3 gene, PubMed provides a wealth of information on cryopyrin-associated syndromes, including NOMID (neonatal-onset multisystem inflammatory disease) and other related health conditions.
By searching the gene name “NLRP3” on PubMed, researchers can access a comprehensive catalog of articles that discuss the genetic changes associated with this gene. These articles provide valuable information on the role of the NLRP3 gene in the production of proteins such as cryopyrin and pyrin, and the impact of genetic variants on the development of various diseases.
PubMed also contains articles discussing the available genetic tests for NLRP3 gene mutations and their implications in diagnosing cryopyrin-associated syndromes. In addition to PubMed, researchers can also find further information on related genes, diseases, and genetic testing resources from other databases such as OMIM (Online Mendelian Inheritance in Man) and the ClinVar database.
| Resource | Description |
|---|---|
| OMIM | A comprehensive catalog of human genes and genetic conditions, including those related to the NLRP3 gene. |
| ClinVar | A database containing information about genetic variations, their clinical significance, and their relationship to human health. |
These resources can help researchers and healthcare professionals stay up-to-date with the latest scientific advancements and clinical guidelines related to the NLRP3 gene and cryopyrin-associated syndromes. By exploring the articles and information found on PubMed and other related databases, researchers can gain a deeper understanding of the genetic basis of these conditions and potentially contribute to the development of improved diagnostics and treatments.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) is a comprehensive and authoritative database that provides scientific information for genes and genetic diseases. It serves as a valuable resource for clinicians, researchers, and healthcare professionals in the field of genetics.
OMIM contains a catalog of genes associated with different diseases, including the NLRP3 gene. This gene is associated with cryopyrin-associated periodic syndromes (CAPS), a group of rare autoinflammatory conditions caused by changes in the NLRP3 gene.
In the OMIM catalog, you can find information about the NLRP3 gene, its related proteins, and the diseases it can cause. The catalog provides essential information such as gene names, aliases, gene function, and clinical features of the associated diseases.
For more detailed information on the NLRP3 gene and related diseases, OMIM provides links to additional resources and databases. These resources include PubMed, a database of scientific articles, and the Registry of Genes and Genetic Testing Laboratories, which provides information on genetic testing for various conditions.
The OMIM catalog also provides references and citations for scientific articles and other sources of information related to the NLRP3 gene and cryopyrin-associated periodic syndromes. This allows users to explore further and access primary scientific literature on the topic.
In summary, the catalog of genes and diseases from OMIM is a valuable resource for researchers, clinicians, and healthcare professionals interested in genetics. It provides comprehensive information on genes, their associated diseases, and additional resources for further exploration.
Gene and Variant Databases
Gene and variant databases serve as valuable resources for researchers and healthcare professionals studying the NLRP3 gene and its genetic variants. These databases provide comprehensive information on proteins, genetic changes, related conditions, and scientific articles.
Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic conditions. OMIM provides information on the NLRP3 gene, including its associated conditions and variant names. It also lists scientific articles and references related to the gene.
NOMID Registry is a specialized database focused on Cryopyrin-Associated Periodic Syndromes (CAPS), which are caused by NLRP3 gene variants. This registry collects and maintains clinical and genetic data of individuals with CAPS, facilitating research and testing.
PubMed is a widely used database of scientific articles. Searching the term “NLRP3 gene” on PubMed provides access to a wealth of relevant publications on the gene and its variants. This resource can be utilized for additional information and citation purposes.
Genetic Testing Registry (GTR) is a resource that provides information on genetic tests and their associated genes. GTR lists tests available for the NLRP3 gene and can help researchers and healthcare professionals understand the testing options and their implications.
Other gene and variant databases such as ClinVar and HGMD (Human Gene Mutation Database) contain information on genetic changes and diseases associated with the NLRP3 gene. These databases can provide valuable insights into the genetic landscape of the gene and its impact on health.
Overall, gene and variant databases offer a wealth of resources and information for researchers and healthcare professionals studying the NLRP3 gene. These databases play a critical role in advancing our understanding of genetic conditions and facilitating research and testing.
References
- OMIM – Online Mendelian Inheritance in Man. A catalog of human genes and genetic disorders. Available at: https://www.omim.org
- PubMed – A database of scientific articles containing references, abstracts, and full texts. Available at: https://pubmed.ncbi.nlm.nih.gov
- ClinVar – A database of genetic variants and their relationships to diseases. Available at: https://www.ncbi.nlm.nih.gov/clinvar
- Pyrin Registry – A registry for collecting information on the genetic testing and clinical characteristics of patients with cryopyrin-associated periodic syndromes (CAPS). Available at: https://pyrin.org