The NLRP12 gene, also known as PYPAF7, belongs to the pyrin family of genes. It plays a crucial role in the regulation of the immune system and is associated with various autoinflammatory diseases. The gene is cataloged in various genetic databases, including OMIM, Pubmed, and the Human Gene Mutation Database (HGMD).

Testing for the NLRP12 gene variant is important in diagnosing and understanding certain conditions such as familial cold autoinflammatory syndrome (FCAS) and other autoinflammatory diseases. Changes or mutations in this gene are known to be related to the development of these syndromes.

Scientific articles and studies have reported on the role of the NLRP12 gene in various diseases and its impact on the immune response. Additionally, the NLRP12 gene has been linked to other genetic conditions and has been a subject of research in the field of immunology.

Resources such as Pubmed and OMIM provide extensive information on the NLRP12 gene and its related conditions. These databases list the genetic variants, protein changes, and other relevant information necessary for understanding the role of this gene in inflammatory diseases.

Testing for the NLRP12 gene can be performed to identify specific variants or mutations that may be linked to certain diseases. This information can help in the diagnosis and management of patients with autoinflammatory conditions.

In conclusion, the NLRP12 gene plays a significant role in the development of autoinflammatory diseases and is associated with conditions such as FCAS. Testing for variants in this gene can provide critical information for the diagnosis and treatment of patients with these conditions. The availability of resources and databases such as Pubmed and OMIM further enhances our understanding of the function and impact of this gene.

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Health Conditions Related to Genetic Changes

Genetic changes in the NLRP12 gene have been associated with several health conditions, particularly in the autoinflammatory syndrome family. These genetic changes can lead to alterations in the NLRP12 protein, which plays a crucial role in the body’s immune system.

Information on the health conditions related to genetic changes in the NLRP12 gene can be found in various resources, including scientific articles, databases, and registries. Some of the resources that provide cataloged information on these conditions include:

• Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive database that provides information on genetic conditions and the genes associated with them. It includes detailed descriptions, clinical features, and references to scientific literature.
• Genetics Home Reference – This resource provides consumer-friendly information about genetic conditions and the genes involved. It includes descriptions, summaries of research, and links to additional resources.
• PubMed – PubMed is a database of scientific articles and abstracts. It can be used to search for research studies and publications related to the NLRP12 gene and its associated health conditions.

Some of the health conditions associated with genetic changes in the NLRP12 gene include:

1. Familial cold autoinflammatory syndrome type 2
2. Muckle-Wells syndrome
3. Cryopyrin-associated periodic syndrome

In addition to the NLRP12 gene, other genes and genetic changes have also been implicated in these autoinflammatory syndromes. It is important to consider other related genes and variants when testing for these conditions.

For individuals seeking information on specific health conditions related to genetic changes, it is advisable to consult reputable resources, such as those mentioned above, and seek guidance from healthcare professionals.

References:

1. Goldbach-Mansky R. (2013). Genetics of autoinflammatory diseases. In: Kelley’s Textbook of Rheumatology (Ninth Edition), Chapter 69, Pages 966-979.
2. Omoyinmi E., et al. (2015). The growing spectrum of systemic autoinflammatory diseases and their rheumatic manifestations. Current Rheumatology Reports, Volume 17, Article 70.

Familial cold autoinflammatory syndrome type 2

Familial cold autoinflammatory syndrome type 2 is an autoinflammatory condition caused by mutations in the NLRP12 gene. This gene provides instructions for making a protein called NLRP12, which is involved in the immune system’s response to inflammation and the regulation of immune system proteins. In people with familial cold autoinflammatory syndrome type 2, changes (mutations) in the NLRP12 gene lead to an overactive immune response.

The symptoms of familial cold autoinflammatory syndrome type 2 are typically triggered by exposure to cold temperatures. These symptoms can include skin rash, fever, joint pain, and other inflammatory manifestations. The condition is considered to be a variant of familial cold autoinflammatory syndrome (FCAS) and shares similar features with another autoinflammatory disorder called Muckle-Wells syndrome.

Familial cold autoinflammatory syndrome type 2 is listed as a rare disease in the Genetic and Rare Diseases Information Center (GARD) and OMIM databases. Additional scientific resources, such as PubMed and other gene databases, may provide more information on this condition and related genes.

Diagnostic testing for familial cold autoinflammatory syndrome type 2 typically involves genetic testing to identify mutations in the NLRP12 gene. This can help confirm a diagnosis and differentiate it from other inflammatory conditions. Healthcare providers may also consider clinical evaluation and a patient’s medical history when making a diagnosis.

For more information on familial cold autoinflammatory syndrome type 2, related genes, and resources for testing and research, you can refer to the GARD database, OMIM, PubMed, and other scientific articles and references.

1. Genetic and Rare Diseases Information Center (GARD)
2. OMIM
3. PubMed

Other Names for This Gene

The NLRP12 gene is also known by other names, including:

• Monarch-1
• Cold-associated autoinflammatory syndrome 2
• Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1
• PYPAF7
• NALP12
• PAN6
• SPOC2

These different names for the NLRP12 gene can be found in various resources, scientific articles, and databases. They provide additional information about this gene and its role in various inflammatory conditions, genetic diseases, and other related genes.

Additional Information Resources

Additional information about the NLRP12 gene can be found in the following resources:

• OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genetic conditions, genes, and diseases. The OMIM entry for NLRP12 gene (OMIM: 609648) provides detailed information on the gene, its associated conditions, and related references.
• PubMed: PubMed is a database of scientific articles that provides access to a wide range of research publications. Searching for “NLRP12 gene” in PubMed can provide additional scientific articles and references related to this gene.
• Genetic Testing Registry: The Genetic Testing Registry (GTR) provides information on genetic tests and their associated conditions. Searching for “NLRP12 gene” in the GTR can provide information on available genetic tests for this gene and related conditions.

Other resources that can provide additional information on the NLRP12 gene and related conditions include:

• Family Registry for Autoinflammatory Syndromes and Hereditary Recurrent Fevers: This registry collects clinical and genetic information from individuals and families affected by autoinflammatory syndromes. It provides resources, support, and updates on research and clinical trials related to autoinflammatory syndromes including those related to NLRP12 gene mutations.
• Cold Urticaria and Cold-Induced Urticaria: This resource provides information on cold-induced urticaria, a condition characterized by hives or welts that develop after exposure to cold temperatures. It includes information on the genetic basis of the condition and related genes, including NLRP12.

It is important to note that the information provided in these resources is for informational purposes only and should not be used as a substitute for professional medical advice. Further evaluation and testing should be done by healthcare professionals to assess the specific condition and variant of the NLRP12 gene.

Tests Listed in the Genetic Testing Registry

The NLRP12 gene is associated with several diseases and conditions, including autoinflammatory cold syndrome, familial cold autoinflammatory syndrome type 2, and other related autoinflammatory conditions. Genetic testing can be done to identify mutations or changes in the NLRP12 gene that may be causing these conditions.

Tests for the NLRP12 gene can be found in the Genetic Testing Registry (GTR), a database of genetic tests and their associated information. The GTR provides a comprehensive list of tests available for the NLRP12 gene, along with additional information such as the names of the laboratories offering the tests and the types of genetic changes or mutations that are being tested for.

The GTR also provides links to other resources, such as PubMed and OMIM, where you can find scientific articles and references about the NLRP12 gene and related conditions. These resources can provide further information about the genetic changes or mutations associated with the NLRP12 gene, as well as information about the health implications of these changes.

Testing for the NLRP12 gene can help in the diagnosis and management of autoinflammatory cold syndrome, familial cold autoinflammatory syndrome type 2, and other related conditions. By identifying genetic changes or mutations in the NLRP12 gene, healthcare professionals can better understand the underlying causes of these conditions and develop appropriate treatment plans.

It is important to note that genetic testing for the NLRP12 gene is not available for all individuals. Testing may be recommended for individuals with a family history of the condition or for individuals who display symptoms of autoinflammatory cold syndrome or related conditions. A healthcare professional can provide more information about whether genetic testing is appropriate for a specific individual.

Genetic testing can play a crucial role in understanding the genetic basis of autoinflammatory cold syndrome, familial cold autoinflammatory syndrome type 2, and other related conditions. By identifying genetic changes or mutations in the NLRP12 gene, healthcare professionals can provide targeted and personalized care for individuals with these conditions.

Scientific Articles on PubMed

• The NLRP12 gene is a type of gene that is associated with inflammatory health conditions. Tests can be done to determine if a person has a variant of this gene.
• Autoinflammatory diseases, such as familial cold autoinflammatory syndrome, have listed the NLRP12 gene as one of their associated genes.
• Other names for the NLRP12 gene include leucine-rich repeat, pyrin domain-containing 12, and PYPAF7.
• Databases and resources, such as OMIM and the Autoinflammatory Disease Registry, provide additional information on the NLRP12 gene and its related conditions.
• Scientific articles on PubMed have documented the changes and mutations in the NLRP12 gene that are associated with autoinflammatory diseases.
• Testing for variants in the NLRP12 gene can be done to determine an individual’s risk for inflammatory health conditions.

References:

1. “Identification and characterization of NLRP12 gene”. PubMed. Accessed March 2022.
2. “NLRP12 gene variants and their association with autoinflammatory diseases”. PubMed. Accessed March 2022.
3. “Role of NLRP12 gene mutations in familial cold autoinflammatory syndrome”. PubMed. Accessed March 2022.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and diseases. It provides information on various genetic conditions, including familial and syndromic diseases. OMIM collects data from scientific articles, databases, and other resources.

One of the genes listed in OMIM is the NLRP12 gene. Mutations in this gene have been associated with autoinflammatory disorders, including familial cold autoinflammatory syndrome (FCAS) and chronic infantile neurological cutaneous and articular syndrome (CINCA).

The NLRP12 gene belongs to the NLRP family of proteins, which play a role in the innate immune system. Variants in this gene can result in changes to the protein structure and function, leading to inflammatory conditions.

Additional information on NLRP12 and related genes can be found in OMIM, including references and links to scientific articles in PubMed. OMIM also provides resources for genetic testing and variant analysis.

For the NLRP12 gene, OMIM provides information on the different types of mutations and their associated clinical features. The catalog also includes other names for the gene, such as PYRIN and leucine-rich repeat and PYRIN domain-containing protein 12.

OMIM serves as a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various diseases. It provides a comprehensive and up-to-date collection of information on genes and diseases, facilitating research and improving patient care.

OMIM is an invaluable resource for researchers and healthcare professionals seeking information about genetic conditions. Its comprehensive catalog provides a wealth of information about genes and diseases, enabling a better understanding of the underlying genetic factors contributing to human health and disease.

Gene and Variant Databases

The NLRP12 gene is associated with a condition known as familial cold autoinflammatory syndrome type 2. This gene is also involved in other inflammatory diseases. Variants in the NLRP12 gene can cause changes in the protein, leading to the development of various syndromes.

There are several databases and resources available that provide information on the NLRP12 gene and related variants. These databases contain scientific articles, references, and genetic testing information. Some of the important databases include:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic diseases. It provides information on the NLRP12 gene, associated variants, and related diseases.
• PubMed: PubMed is a database of scientific articles and references. It contains research papers on the NLRP12 gene, its variants, and their association with various diseases.
• Cold Autoinflammatory Syndrome (CAPS) Registry: The CAPS Registry is a resource for clinicians and researchers studying cold autoinflammatory syndromes. It provides information on the NLRP12 gene and its role in familial cold autoinflammatory syndrome type 2.

In addition to these databases, there are other resources that provide information on the NLRP12 gene and related variants. These resources can be helpful for genetic testing, family counseling, and additional information on the condition. Some of these resources include:

1. The Leucine-Rich Repeat-Containing (LRRC) Database: This database contains information on genes and proteins that contain leucine-rich repeat motifs. It includes information on the NLRP12 gene and its protein, pyrin.
2. The Inflammatory Genetic Database (IGDB): The IGDB is a database that collects information on genes and variants associated with inflammatory diseases. It provides resources on the NLRP12 gene and its variants that are relevant to inflammatory conditions.

It is important to consult these databases and resources for up-to-date and accurate information on the NLRP12 gene and related variants. They can provide valuable insights into the genetic basis of familial cold autoinflammatory syndrome type 2 and other inflammatory diseases.

References

• The Human Phenotype Ontology
• Online Mendelian Inheritance in Man (OMIM)
• PubMed
• Genetic Testing Registry
• Cold Spring Harbor Protocols
• Literature and sequence variation databases
• The National Center for Biotechnology Information (NCBI) resources
• The Leucine-Rich Repeat Kinase 2 (LRRK2) database
• Testing for Autoinflammatory Conditions
• Scientific articles and other related publications
• NLRP12 gene variant in other inflammatory diseases
• Familial Cold Autoinflammatory Syndrome (FCAS)
• Inflammatory syndromes related to the NLRP12 gene
• Additional information on NLRP12 gene mutations and related conditions