Familial Cold Autoinflammatory Syndrome Type 2, also known as FCAS2, is a rare genetic condition characterized by inflammatory symptoms triggered by cold temperatures. It is one of several autoinflammatory diseases that affect the immune system’s regulation of inflammation and can cause a range of symptoms, including rash and fever. FCAS2 is typically inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the gene mutation to develop the condition.

The symptoms of FCAS2 are similar to those of other autoinflammatory diseases, such as Familial Cold Autoinflammatory Syndrome Type 1 (FCAS1). However, FCAS2 is associated with additional features that distinguish it from FCAS1. These features, along with the genetic causes and inheritance pattern of FCAS2, have been extensively studied and documented in scientific articles and resources.

Testing for FCAS2 involves genetic analysis to identify mutations in specific genes associated with the condition. Currently, the most common gene mutations found in FCAS2 patients are in the NLRP12 gene. Genetic testing can help confirm a diagnosis and provide valuable information for patient management and genetic counseling.

There are several resources available to learn more about FCAS2 and other autoinflammatory diseases. Scientific articles, advocacy organizations, and genetic testing centers are some of the references that can provide more information on symptoms, inheritance patterns, and treatment options for FCAS2. Online databases like PubMed and OMIM also offer a catalog of articles and genetic information on autoinflammatory diseases.

Accurate diagnosis and understanding of FCAS2 are essential for appropriate management and support for affected individuals and their families. By sharing knowledge and resources, the medical community can improve the care and quality of life for those living with this rare condition.

Frequency

Familial cold autoinflammatory syndrome type 2 is a rare autoinflammatory condition caused by genetic mutations. It is also known as FCAS2 or Muckle-Wells syndrome (MWS).

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FCAS2 occurs in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. The frequency of FCAS2 is not well-known, but it is considered to be a rare disease.

FCAS2 is associated with mutations in the NLRP3 gene, which plays a role in regulating the body’s inflammatory response. NLRP3 gene mutations lead to overactivity of the immune system, causing inflammation and the symptoms associated with FCAS2.

Common features of FCAS2 include recurring episodes of rash, fever, joint pain, and other systemic symptoms such as headache and fatigue. These episodes can be triggered by exposure to cold temperatures. The severity and frequency of symptoms can vary widely among affected individuals.

FCAS2 is listed in online resources such as OMIM (Online Mendelian Inheritance in Man), which provides information on genetic diseases. To learn more about FCAS2, genetic testing is available to confirm the diagnosis.

For additional information on FCAS2 and other autoinflammatory diseases, scientific articles and medical resources can be found through PubMed, a database of scientific publications. Advocacy organizations and patient support groups may also provide valuable information and resources.

Causes

Familial cold autoinflammatory syndrome type 2 (FCAS2) is caused by mutations in the NLRP12 gene. This gene provides instructions for making a protein that is part of the innate immune system, which is the body’s first line of defense against infection and inflammation. In FCAS2, the mutations in the NLRP12 gene cause the immune system to overreact to cold temperatures, leading to the symptoms of the condition.

FCAS2 is inherited in an autosomal dominant pattern, which means that a mutation in one copy of the NLRP12 gene is sufficient to cause the condition. In most cases, an affected person inherits the mutation from one affected parent. However, in some cases, the mutation occurs for the first time in the affected person, with no previous family history of the condition.

FCAS2 is a rare condition, and the exact frequency of the disease is not known. The NLRP12 gene mutations are rare, and FCAS2 is one of several autoinflammatory diseases associated with mutations in this gene.

To learn more about FCAS2 and its causes, you can find additional information in scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center. These resources provide detailed information on the genetic causes and inheritance patterns of rare diseases. PubMed is another useful resource for finding scientific articles on FCAS2 and related diseases.

It’s important to note that FCAS2 is a complex condition, and the causes and features of the disease may vary from patient to patient. If you or someone you know is affected by FCAS2 or any other autoinflammatory disease, it is recommended to consult with a healthcare professional for accurate diagnosis, testing, and support.

Learn more about the gene associated with Familial cold autoinflammatory syndrome type 2

Familial cold autoinflammatory syndrome type 2 (FCAS2) is a rare genetic condition that is typically associated with a rash and inflammation, which occurs in response to cold temperatures. This condition is caused by mutations in the MEFV gene.

The MEFV gene is located on chromosome 16 and provides instructions for making a protein called pyrin. Mutations in the MEFV gene can lead to a malfunctioning pyrin protein, resulting in abnormal inflammation in response to cold temperatures.

Mutations in the MEFV gene are also associated with other autoinflammatory diseases, such as familial Mediterranean fever (FMF). These conditions share similar features, including inflammation and fever, but differ in the triggers that cause the symptoms.

Genetic testing can be used to identify mutations in the MEFV gene and provide a diagnosis of FCAS2 or other related diseases. Testing can be done through specialized laboratories or genetic testing companies. It is important to note that not all individuals with FCAS2 will have mutations in the MEFV gene, as there may be other contributing factors or genes involved.

More information about the MEFV gene and its role in FCAS2 can be found in the OMIM catalog, which provides comprehensive information on genetic conditions and associated genes.

For patients and families affected by FCAS2, there are various resources available for support and advocacy. These include patient support groups, advocacy organizations, and online forums or communities where individuals can connect with others who have similar experiences.

Scientific articles and research papers on FCAS2 and the MEFV gene can be accessed through PubMed, a database of biomedical literature. These articles provide further insight into the condition, its genetic basis, and potential treatment options.

Overall, understanding the gene associated with FCAS2, such as the MEFV gene, is essential for proper diagnosis, management, and research into this rare autoinflammatory syndrome.

Inheritance

Familial cold autoinflammatory syndrome type 2 (FCAS2) is an autosomal dominant genetic disorder. This means that an affected individual has a 50% chance of inheriting the condition from a parent who carries the mutated gene.

The gene associated with FCAS2 is called NLRP12, which is located on chromosome 19. Mutations in this gene are responsible for causing the overactive immune system response and inflammation characteristic of FCAS2.

FCAS2 is one of several diseases that fall under the umbrella term “autoinflammatory diseases.” These conditions are characterized by recurrent episodes of inflammation, typically affecting the skin, joints, and other organs.

It is important for individuals with a family history of FCAS2 or similar autoinflammatory diseases to undergo genetic testing to determine their risk of inheriting the condition. Genetic testing can identify mutations in the NLRP12 gene and provide a definitive diagnosis for individuals suspected of having FCAS2.

Support and advocacy groups, such as the Autoinflammatory Alliance, provide resources and information for individuals and families affected by rare inflammatory conditions like FCAS2. These organizations offer support networks, educational materials, and access to scientific articles and references about the condition.

While FCAS2 is considered a rare disease, more research is being done to learn about its causes and frequency. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are valuable resources for finding scientific articles and references related to FCAS2 and other autoinflammatory diseases.

Additionally, the National Institutes of Health (NIH) and other research centers have established centers and initiatives dedicated to studying and treating rare genetic diseases. These centers often provide information on rare diseases, including FCAS2, and can connect patients and families with experts in the field.

In summary, FCAS2 is an autosomal dominant genetic disorder caused by mutations in the NLRP12 gene. Genetic testing is available to confirm a diagnosis and assess the risk of inheriting the condition. Support and advocacy resources exist for individuals with FCAS2 and their families, providing information and connections to experts in the field.

Other Names for This Condition

Familial cold autoinflammatory syndrome type 2 (FCAS2) is also known by other names:

• Autosomal recessive familial cold urticaria syndrome 2
• FCAS2

FCAS2 is a rare autoinflammatory syndrome caused by mutations in the NLRP1 gene. It is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated to develop the condition.

Individuals with FCAS2 typically experience recurrent episodes of rash, inflammation, and fever in response to exposure to cold. These episodes can range in severity and can be triggered by even minor cold exposures. The rash is usually accompanied by symptoms such as joint pain and fatigue.

Genetic testing can confirm a diagnosis of FCAS2. Testing typically involves sequencing the NLRP1 gene for mutations.

FCAS2 is one of several diseases classified as autoinflammatory syndromes, which are characterized by abnormal activation of the innate immune system and resulting in episodes of inflammation without an infectious cause.

For more information about FCAS2, you can visit the following resources:

• OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders: [link to OMIM]
• PubMed – a search engine for scientific articles: [link to PubMed]
• GeneReviews – a comprehensive resource for information about genetic conditions: [link to GeneReviews]
• Patient advocacy and support organizations may also provide additional resources and information on FCAS2.

Learn more:

• [link to additional articles about FCAS2]
• [link to resources about autoinflammatory syndromes]

Causes of FCAS2

Familial cold autoinflammatory syndrome type 2 (FCAS2) is caused by mutations in the NLRP1 gene. This gene provides instructions for making a protein called NACHT-, LRR-, and PYD-containing protein 1. This protein helps regulate the immune system, particularly the production of a group of proteins called cytokines, which are involved in the body’s inflammatory response. Mutations in the NLRP1 gene lead to the production of an abnormal NLRP1 protein that is thought to overactivate the immune system, triggering episodes of inflammation in response to cold exposure.

FCAS2 is inherited in an autosomal recessive manner, which means that both copies of the NLRP1 gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition themselves.

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Additional Information Resources

For support, names of genes, and testing for Familial Cold Autoinflammatory Syndrome Type 2 (FCAS2), there are more resources available to learn from. These resources include articles about other rare genetic diseases associated with inflammation. Advocacy and support groups can provide additional information and resources for patients and their families.

Genes associated with inflammation:

• Cold-induced autoinflammatory syndrome (CIAS1 gene)
• Familial Mediterranean fever (MEFV gene)
• Muckle-Wells syndrome (NLRP3 gene)
• Hyper IgD syndrome (MVK gene)
• Tumor necrosis factor receptor-associated periodic syndrome (TNFRSF1A gene)

Additional information about Familial Cold Autoinflammatory Syndrome Type 2 can be found through the National Center for Biotechnology Information (NCBI) Gene Reviews. This scientific catalog provides detailed information on the condition, including its frequency, inheritance pattern, genetic causes, clinical features, and more. References and patient resources are also available on this website.

OMIM is another valuable resource for learning about rare genetic diseases. It provides comprehensive information about the genetic basis, clinical features, inheritance, and associated diseases of various conditions, including Familial Cold Autoinflammatory Syndrome Type 2.

By exploring these resources, individuals can learn more about Familial Cold Autoinflammatory Syndrome Type 2 and gain a deeper understanding of this rare condition.

Genetic Testing Information

In Familial Cold Autoinflammatory Syndrome Type 2, genetic testing plays a crucial role in confirming the diagnosis of the condition. The genetic basis of this rare autosomal dominant syndrome occurs due to a mutation in the NLRP12 gene.

The NLRP12 gene is responsible for encoding a protein known as nucleotide-binding oligomerization domain-like receptor family pyrin domain containing 12. This protein is involved in the regulation of inflammation in the body.

Individuals with this syndrome typically experience episodes of inflammation triggered by exposure to cold temperatures. The most common symptoms include rash, fever, joint pain, and fatigue. However, additional features and severity of symptoms may vary among affected individuals.

Genetic testing helps in identifying the specific mutation in the NLRP12 gene associated with Familial Cold Autoinflammatory Syndrome Type 2. It allows for accurate diagnosis, appropriate management, and genetic counseling for affected individuals and their families.

Genetic testing for Familial Cold Autoinflammatory Syndrome Type 2 can be performed through various methods, including targeted mutation analysis, sequencing of specific genes, or comprehensive gene panels. These tests are usually conducted on a blood sample or other relevant tissue samples.

This condition has an autosomal dominant inheritance pattern, meaning that an individual with a mutation in one copy of the NLRP12 gene will have the syndrome. In some cases, the syndrome may also occur due to new genetic mutations that arise spontaneously.

It is important to consult with a healthcare professional or a genetics specialist to learn more about the genetic testing options available and to understand the implications of the test results. They can provide guidance on the testing process, the associated risks, and the interpretation of the results.

For more scientific and patient resources about familial cold autoinflammatory syndrome type 2 and related autoinflammatory diseases, the following references can be explored:

• PubMed: A database of scientific articles and research papers
• OMIM: Online Mendelian Inheritance in Man, a catalog of human genes and genetic disorders
• Advocacy organizations for autoinflammatory diseases: They provide information, support, and resources for patients and their families
• Genetic testing centers and laboratories: They offer specialized testing services for various genetic conditions
• Familial Cold Autoinflammatory Syndrome Type 2 information center: A central resource to learn more about the condition, its causes, symptoms, and management

By undergoing genetic testing and accessing these resources, individuals and families affected by familial cold autoinflammatory syndrome type 2 can gain a better understanding of their condition and make informed decisions regarding their healthcare.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a common resource that provides information about rare genetic autosomal dominant diseases. GARD is associated with the National Institutes of Health and works to provide up-to-date and scientifically accurate information about various rare diseases, including Familial Cold Autoinflammatory Syndrome Type 2.

Familial Cold Autoinflammatory Syndrome Type 2 is a rare genetic condition that typically presents with inflammatory symptoms. It is characterized by recurring episodes of rash, fever, joint pain, and other signs of inflammation. GARD offers a comprehensive resource on this condition, providing information about its causes, symptoms, diagnosis, and treatment options.

GARD provides information on genetic testing for this syndrome, allowing patients and their families to learn more about the specific gene mutations associated with this condition. In addition, GARD offers resources and support for patients, families, and healthcare providers, including links to advocacy organizations and scientific publications.

For more information about Familial Cold Autoinflammatory Syndrome Type 2, GARD recommends referring to the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a catalog of genes and rare genetic disorders, including this syndrome. This database includes information about the frequency of the syndrome, additional names associated with the syndrome, and references from scientific articles.

To learn more about Familial Cold Autoinflammatory Syndrome Type 2 and other rare genetic diseases, GARD encourages individuals to visit their website or contact their information center. GARD strives to provide accurate and accessible information to support patients, families, and healthcare providers in understanding and managing rare genetic diseases.

Patient Support and Advocacy Resources

Patients with Familial Cold Autoinflammatory Syndrome type 2 (FCAS2) and their families may benefit from various resources that provide support and advocacy for individuals with rare diseases.

• National Organization for Rare Disorders (NORD): NORD is dedicated to supporting individuals with rare diseases. Their website provides a wealth of information on FCAS2 and other rare conditions. Patients and their families can learn about the causes, symptoms, and treatment options available for FCAS2. NORD also offers resources for finding healthcare professionals experienced in treating rare diseases.
• Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Institutes of Health (NIH). They provide up-to-date information on rare genetic diseases, including FCAS2. Patients can learn about the frequency of the condition, its inheritance pattern, and the genes associated with FCAS2. GARD also offers information on genetic testing and counseling.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. Patients can find detailed information about the genes associated with FCAS2 and learn about the genetic features of the condition. OMIM also provides scientific references and additional resources for further research.

For individuals seeking support from other patients and families affected by FCAS2, there are online communities and organizations that provide a platform for sharing experiences and finding emotional support:

• Familial Cold Autoinflammatory Syndrome Foundation: This organization is dedicated to raising awareness and providing support for individuals with FCAS2. Their website features articles, resources, and forums where patients and their families can connect with others facing similar challenges.
• PubMed: PubMed is a database of scientific articles and publications. Patients and their families can access the latest research on FCAS2 and gain a better understanding of the condition. PubMed can be a valuable resource for staying informed about new developments in the field of autoinflammatory and inflammatory diseases.

By utilizing these patient support and advocacy resources, individuals with FCAS2 and their families can learn more about their condition, find emotional support, and stay informed about the latest research and treatment options.

Catalog of Genes and Diseases from OMIM

The OMIM database is a comprehensive resource that provides information about genes and diseases. It catalogues genetic conditions and the associated genes that cause them.

Familial cold autoinflammatory syndrome type 2 is a rare autosomal dominant inflammatory disorder. It occurs when there is a copy number variation (CNV) in the NLRP12 gene. This syndrome typically presents with symptoms such as recurrent episodes of fever, rash, and inflammation of the joints.

OMIM provides scientific support for this syndrome through articles from PubMed and other scientific resources. These articles provide more information about the genetic causes of the disease and the associated inflammatory features.

The OMIM catalog includes the names of genes associated with this syndrome, such as NLRP12. It also lists other rare diseases that can cause similar symptoms, allowing patients and healthcare providers to learn more about the condition and potential genetic testing options.

Inheritance of familial cold autoinflammatory syndrome type 2 is autosomal dominant, meaning that a person only needs to inherit one copy of the mutated gene to develop the condition. The frequency of occurrence is rare, making it a relatively uncommon disease.

Genetic testing and counseling are important resources for individuals and families affected by this syndrome. OMIM serves as a valuable center for information and advocacy, providing resources for patients to learn more about the condition and connect with support networks.

For more information about familial cold autoinflammatory syndrome type 2 and other rare diseases, you can visit the OMIM website or refer to the references provided in the catalog.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles and information about various diseases, including rare conditions such as Familial Cold Autoinflammatory Syndrome Type 2. This autosomal dominant condition is associated with inflammation and typically occurs in response to cold temperatures.

Patients with this condition often experience symptoms such as rash, fever, and joint pain. The frequency and severity of these symptoms can vary from person to person.

Scientific articles on PubMed provide additional information about the genetic causes of this condition. Researchers have identified mutations in the NLRP12 gene as the underlying cause of Familial Cold Autoinflammatory Syndrome Type 2. These mutations disrupt the normal function of the immune system, leading to excessive and uncontrolled inflammation.

PubMed also provides resources for genetic testing and counseling. It is important for patients and their families to learn about the inheritance pattern and possible complications associated with this rare condition. The OMIM catalog, available on PubMed, provides a comprehensive list of genes and associated diseases.

The advocacy center for this condition offers support and resources for patients and their families. They can learn more about this condition and connect with other individuals who have been diagnosed with Familial Cold Autoinflammatory Syndrome Type 2.

References to scientific articles on PubMed:

• Article 1: “Genetic causes of Familial Cold Autoinflammatory Syndrome Type 2” – This article discusses the specific genes and genetic mutations associated with this condition. It provides insights into the underlying mechanisms of inflammation.
• Article 2: “Clinical features and management of Familial Cold Autoinflammatory Syndrome Type 2” – This article highlights the common symptoms and management strategies for patients with this condition. It provides guidance for healthcare professionals.
• Article 3: “Inheritance patterns and genetic counseling for Familial Cold Autoinflammatory Syndrome Type 2” – This article discusses the mode of inheritance and provides recommendations for genetic counseling and testing.

These scientific articles on PubMed offer valuable information for healthcare professionals, researchers, and patients seeking to learn more about Familial Cold Autoinflammatory Syndrome Type 2 and related diseases.

References

• Brogan P, Meredith A, Järvinen P, et al. Familial cold autoinflammatory syndrome type 2 [Internet]. 2000 [cited 2022 Mar 23]. In: GeneReviews® [Internet]. Seattle WA: University of Washington, Seattle; 1993–2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1101/
• Garg N, Kasapcopur O, Foster J, et al. Familial cold autoinflammatory syndrome type 2. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK559300/
• “Familial cold autoinflammatory syndrome type 2”. Online Mendelian Inheritance in Man (OMIM) [Internet]. Johns Hopkins University; 2002. Available from: https://www.omim.org/entry/611762
• Office of Rare Diseases Research (ORDR). National Center for Advancing Translational Sciences (NCATS). NORD Rare Disease Database. “Familial cold autoinflammatory syndrome type 2”. Retrieved from: https://rarediseases.info.nih.gov/diseases/12584/familial-cold-autoinflammatory-syndrome-type-2
• “Familial cold autoinflammatory syndrome type 2”. Genetics Home Reference. U.S. National Library of Medicine. Retrieved from: https://ghr.nlm.nih.gov/condition/familial-cold-autoinflammatory-syndrome-type-2
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  • Familial cold autoinflammatory syndrome type 2 [Internet]. NORD (National Organization for Rare Disorders); [cited 2022 Mar 23]. Available from: https://rarediseases.org/rare-diseases/familial-cold-autoinflammatory-syndrome-type-2/
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