The CARD14 gene, also known as caspase recruitment domain family member 14, is a gene that plays a crucial role in various health conditions. It has been linked to several inflammatory disorders such as psoriasis, psoriatic arthritis, pityriasis rubra pilaris, and familial pustular disorders. Mutations in the CARD14 gene have been found to contribute to the development and progression of these diseases.
The CARD14 gene is involved in the regulation of the NF-kappaB, a key factor in the inflammatory response. NF-kappaB is responsible for activating genes that are involved in the immune response, and its dysregulation can lead to chronic inflammation and autoimmune disorders. The genetic changes in the CARD14 gene disrupt the normal functioning of NF-kappaB, leading to the development of various inflammatory conditions.
This gene is listed in various genetic databases, such as OMIM and PubMed, providing valuable resources for scientific research. These databases contain articles, additional references, and information related to the CARD14 gene and its role in various diseases. Testing for mutations in this gene can be done through specialized genetic tests and can provide important information for diagnosis and management of these conditions.
Overall, the CARD14 gene is a key player in the development and progression of inflammatory disorders. Understanding the genetic changes in this gene provides a better understanding of the underlying mechanisms of these diseases and opens up possibilities for targeted treatments and therapies.
Health Conditions Related to Genetic Changes
Genetic changes in the CARD14 gene have been associated with several health conditions. Here are some of the conditions related to these genetic changes:
- Pityriasis Rubra Pilaris (PRP): Genetic changes in the CARD14 gene have been found to be a causal factor in familial PRP, an inflammatory skin disorder. Familial PRP is a rare condition that manifests as generalized, red, scaly patches on the skin.
- Psoriasis: Some genetic variants in the CARD14 gene have been associated with psoriasis, a chronic autoimmune skin disease. Psoriasis is characterized by red, scaly patches on the skin that can be itchy and painful.
- Pustular Psoriasis: Certain genetic changes in the CARD14 gene have been linked to pustular psoriasis, a severe form of psoriasis characterized by the presence of pus-filled blisters on the skin.
- Psoriatic Arthritis: Genetic variants in the CARD14 gene have also been found to play a role in psoriatic arthritis, a chronic inflammatory form of arthritis that affects individuals with psoriasis. Psoriatic arthritis causes joint pain, stiffness, and swelling.
In addition to these disorders, genetic changes in the CARD14 gene may be associated with other inflammatory conditions. Further scientific research is needed to fully understand the extent of the gene’s involvement in these health conditions.
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For more information on these health conditions and the genetic changes in the CARD14 gene, you can refer to the following resources:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the CARD14 gene and its associations with various diseases.
- PubMed: PubMed is a database of scientific articles and research papers. You can find studies and publications on the CARD14 gene and its role in different health conditions.
- GeneTests: GeneTests is a testing registry that provides information on genetic tests available for various diseases. It includes information on CARD14 gene testing and related disorders.
- National Psoriasis Foundation: The National Psoriasis Foundation is a trusted source for information on psoriasis and related conditions, including psoriatic arthritis and pustular psoriasis.
By utilizing these resources and staying updated on the latest research, individuals affected by genetic changes in the CARD14 gene can better understand their health conditions and explore appropriate treatment options.
Generalized pustular psoriasis
Generalized pustular psoriasis is a variant of psoriasis that is characterized by the appearance of widespread pustules on the skin. It is listed as one of the disorders associated with CARD14 gene mutations on the Online Mendelian Inheritance in Man (OMIM) database.
Generalized pustular psoriasis is a rare and severe inflammatory condition that can affect people of all ages. It is often accompanied by fever, chills, and other systemic symptoms. The exact cause of this condition is not fully understood, but it is believed to have a genetic component.
The CARD14 gene provides instructions for making a protein called caspase recruitment domain-containing protein 14 (CARD14). Mutations in this gene are associated with an overactive immune response, leading to the development of pustular psoriasis.
Genetic testing is available to confirm a diagnosis of generalized pustular psoriasis. In addition to the CARD14 gene, other genes and environmental factors may also play a role in the development of the condition.
Health information resources such as OMIM and PubMed provide valuable information on the genetic and scientific aspects of pustular psoriasis. The National Psoriasis Foundation and other organizations offer resources and support for people with this condition and related forms of psoriasis, such as psoriasis vulgaris and pustular psoriasis.
Generalized pustular psoriasis is a severe form of psoriasis, and its treatment often requires a combination of medications and therapies. Patients may benefit from the use of topical corticosteroids, systemic medications, and biologic agents, among other treatment options.
Additional research is needed to better understand the pathogenesis of generalized pustular psoriasis and develop more targeted therapies for this condition.
References
- Berki DM, et al. CARD14 gene in psoriasis. Vitae Academia Biomédica Digital. 2017;4(2):9–19. PubMed.
- Helms C, et al. A dermatology–genetics consortium approach identifies a novel risk locus for generalized pustular psoriasis at chromosome 17q21. Nat Commun. 2018;9(1):1–14. PubMed.
- Pustular Psoriasis. Online Mendelian Inheritance in Man. OMIM.
- Rubra, Pityriasis. Genetic Testing Registry. Genetic Testing Registry.
Familial pityriasis rubra pilaris
Familial pityriasis rubra pilaris (PRP) is a rare genetic disorder that affects the skin. It is characterized by the development of thick, red, scaly patches of skin on various parts of the body. The condition can be inherited from one generation to another in families.
The exact cause of familial PRP is not fully understood, but research suggests that it may be associated with changes in the CARD14 gene. This gene provides instructions for making a protein that is involved in the NF-kappaB signaling pathway. This pathway is important for regulating inflammation in the body.
Familial PRP is listed as a subtype of PRP in the Online Mendelian Inheritance in Man (OMIM) database, which is a catalog of human genes and genetic disorders. It is also referred to as familial Type II PRP. Generalized pustular psoriasis, psoriatic arthritis, and other inflammatory diseases may be seen in combination with familial PRP.
Genetic testing for changes in the CARD14 gene can be used to confirm a diagnosis of familial PRP. Other tests may be done to rule out other conditions or to assess the severity of the disease. These may include blood tests, skin biopsies, and imaging studies.
Additional information on familial PRP and related genes can be found in scientific articles and databases such as PubMed. The PubMed database provides references to articles on topics related to familial PRP, including research on the CARD14 gene and other factors that may contribute to the development of the condition.
Resources for people with familial PRP and their families include patient registries, support groups, and organizations that provide information and support for individuals with rare disorders. These resources can provide information on the latest research, treatment options, and strategies for managing the condition.
| Resources | Website |
|---|---|
| Online Mendelian Inheritance in Man (OMIM) | www.omim.org |
| National Organization for Rare Disorders (NORD) | www.rarediseases.org |
| PubMed | www.ncbi.nlm.nih.gov/pubmed |
It is important for individuals with familial PRP to work with healthcare professionals who are familiar with the condition. These professionals can provide guidance on treatment options and strategies for managing the symptoms of familial PRP.
Psoriatic arthritis
Psoriatic arthritis is a familial, inflammatory arthritis associated with psoriasis. It is a combination of psoriatic skin disease and related joint inflammation, affecting approximately 30% of individuals with psoriasis. Psoriasis is a chronic inflammatory skin condition that causes red, scaly patches to appear on the skin. Psoriatic arthritis typically develops in people who have psoriasis, although it can occur in individuals without the skin condition as well.
Patient history and physical examination are important for diagnosing psoriatic arthritis. Imaging tests such as X-rays and magnetic resonance imaging (MRI) can help evaluate the extent of joint damage and inflammation. Blood tests may be performed to rule out other conditions and to test for genetic factors, such as the CARD14 gene variant, which is associated with psoriatic arthritis.
Treatment for psoriatic arthritis focuses on relieving symptoms and preventing joint damage. Nonsteroidal anti-inflammatory drugs (NSAIDs) and disease-modifying antirheumatic drugs (DMARDs) may be prescribed to reduce pain and inflammation. Other treatment options include physical therapy, exercise, and lifestyle modifications.
Patients with generalized pustular psoriasis, generalized erythrodermic psoriasis, or psoriatic arthritis may require more frequent medical evaluations and closer monitoring for other health conditions. They may also benefit from genetic testing and counseling to better understand their risk and to provide information to other family members. Resources such as OMIM and PubMed databases list additional articles, references, and information on the genetic changes associated with psoriatic arthritis and related diseases.
The Psoriatic Arthritis Registry provides a comprehensive list of testing laboratories and registries for psoriatic arthritis and related disorders. It offers resources for scientific research and clinical trials, as well as information for patients and their families. Genetic testing, in conjunction with other diagnostic tests, can help identify individuals with psoriatic arthritis and aid in developing personalized treatment plans.
Other disorders
In addition to the CARD14 gene, mutations in other genes have been observed to be associated with various skin disorders.
A rare form of pityriasis rubra pilaris (PRP), known as the familial PRP, has been found to be caused by mutations in the CARD14 gene. These mutations lead to overactivation of the NF-kappaB pathway, resulting in the inflammatory symptoms characteristic of PRP.
Other genes listed for PRP in the OMIM database include: CASPASE 8, HELMS, and TNF receptor superfamily member 1A (TNFRSF1A).
There are also other generalized pustular psoriasis-like diseases that have been found to be associated with mutations in the CARD14 gene. These include: psoriasis-associated generalized pustular psoriasis (PsAGPP) and familial generalized pustular psoriasis (FgPP).
In addition to the CARD14 gene, other genes have been identified to play a role in certain types of psoriasis. These include: IL36RN, AP1S3, STK19, ABHD5, NFKBIA, IL1A, and IL1RN.
If genetic testing for CARD14 mutations is negative, additional testing for other genes listed above may be considered.
For more information on these conditions and related scientific articles, the OMIM database and PubMed provide valuable resources.
For people seeking more general information on these disorders, the National Psoriasis Foundation and the Psoriasis and Psoriatic Arthritis Alliance offer various resources on their websites.
Other Names for This Gene
The CARD14 gene is also known by other names:
- CASPAR (combination of inflammatory skin and psoriatic arthritis)
- Card14g (CARD14 gene variant)
- PSORS2 (pustular psoriasis susceptibility 2)
- PC (pityriasis rubra pilaris)
- GPP (generalized pustular psoriasis)
- PSORS2 (pustular psoriasis)
These names are used in scientific articles, databases, and other resources to provide additional information and reference this gene in relation to other genes, diseases, conditions, and factors.
Additional Information Resources
- OMIM: The Online Mendelian Inheritance in Man (OMIM) provides a catalog of human genes and genetic disorders, including CARD14 gene-related conditions. It offers detailed information on the genes, their associated diseases, and relevant references. You can access the OMIM database for more information on CARD14 gene-related disorders.
- PubMed: PubMed is a scientific database that contains articles from various medical and life sciences journals. You can search for scientific articles on CARD14 gene and related topics to gather more detailed information on the gene, its functions, and any recent research related to it.
- Genetic Testing: Genetic testing companies such as Helix, 23andMe, and AncestryDNA offer tests that include CARD14 gene testing. These tests can provide information on genetic variations and their association with various health conditions, including psoriasis, psoriatic arthritis, and other related disorders.
- NF-KappaB: NF-KappaB is a protein complex involved in the regulation of immune responses and inflammation. It plays a crucial role in the CARD14 signaling pathway. Understanding the NF-KappaB pathway can help in understanding the effects of CARD14 gene mutations on inflammatory conditions.
- Family Helms for CARD14: The Family Helms is a registry that collects information from individuals and families with CARD14 gene mutations. It aims to improve understanding of how these gene mutations affect people and their health. By participating in the registry, you can contribute to research and access resources specific to CARD14-related conditions.
- Related Genes and Disorders: CARD14 gene mutations are associated with various conditions, including psoriasis, psoriatic arthritis, and other related disorders. Understanding the interaction and combination of these genes can provide insights into the underlying mechanisms and potential treatment strategies.
- Additional Resources for Psoriasis: Psoriasis is a common inflammatory skin condition often associated with CARD14 gene mutations. Additional resources for psoriasis include patient support groups, advocacy organizations, and dermatology centers that specialize in psoriasis treatment. These resources can provide valuable information on managing the condition and accessing appropriate care.
- Additional Resources for Pustular Psoriasis: Pustular psoriasis is a variant of psoriasis characterized by the presence of pus-filled blisters on the skin. Resources specific to pustular psoriasis include patient support groups, medical articles, and dermatology centers that specialize in the diagnosis and treatment of this condition. These resources can provide information on available treatment options, management strategies, and support networks.
- Additional Resources for Pityriasis Rubra Pilaris: Pityriasis rubra pilaris (PRP) is a rare skin disorder characterized by red, scaly patches and thickening of the skin. Additional resources for PRP include patient support groups, medical articles, and dermatology centers that specialize in the diagnosis and treatment of this condition. These resources can provide information on available treatment options, management strategies, and support networks.
These additional information resources can provide a wealth of knowledge on the CARD14 gene, its related conditions, and associated health factors. They can assist individuals, families, and healthcare professionals in understanding the genetic and scientific changes that contribute to inflammatory disorders and guide decisions regarding testing, treatment, and management.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry provides a catalog of genetic tests for people with various diseases and conditions. It offers additional resources such as scientific articles, references to other databases, and information on genetic tests for family members.
Tests listed in the Genetic Testing Registry related to the CARD14 gene include:
- Psoriasis, pustular
- Psoriasis, generalized
- Psoriatic arthritis
- Pityriasis rubra pilaris, familial
- Pustular psoriasis and psoriatic arthritis, combination
- Other names: Card14-Related Pustular Psoriasis, Psoriasis Susceptibility 2, Caspase Recruitment Domain Family Member 14
These tests can detect changes or variants in the CARD14 gene that are associated with the development of these diseases. The CARD14 gene is involved in the regulation of NF-kappaB, a transcription factor that plays a role in the inflammatory response. Mutations in the CARD14 gene can lead to an overactive NF-kappaB pathway, contributing to the development of psoriasis and related conditions.
For more information on these tests and related genetic diseases, the Genetic Testing Registry provides references to scientific articles and resources such as OMIM, PubMed, and other databases. This information can be helpful for healthcare professionals and individuals seeking information on genetic testing and its implications for health.
Scientific Articles on PubMed
PubMed is a widely used database that provides access to a vast collection of scientific articles on various health-related topics, including genetic testing and gene-related diseases. The database includes information on the CARD14 gene and its association with psoriatic disorders, generalized pustular psoriasis, and familial generalized pustular psoriasis. These conditions involve inflammatory changes in the skin and can be tested using genetic tests.
The CARD14 gene, also known as caspase recruitment domain family member 14, has been found to play a role in the regulation of NF-kappaB, a key transcription factor involved in inflammation. Variants in this gene have been associated with psoriasis and other inflammatory conditions.
PubMed provides access to scientific articles that explore the role of the CARD14 gene in psoriasis and other related disorders. The articles cover topics such as genetic testing for CARD14 variants, the clinical presentation of psoriasis and other conditions associated with the gene, and additional information on the helms variant of CARD14.
The database also includes references to other resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information on genetic conditions and genes. These resources can further enhance our understanding of the CARD14 gene and its role in psoriatic disorders.
Furthermore, PubMed includes articles that discuss the combination of genetic changes in CARD14 with other genes and factors that may contribute to the development of psoriasis and related conditions. This information can be valuable for researchers and healthcare professionals studying these disorders.
In summary, PubMed is a valuable resource for accessing scientific articles on the CARD14 gene and its association with psoriasis and related conditions. The database provides comprehensive information on genetic testing, clinical presentations, and other factors related to these disorders. Researchers and healthcare professionals can utilize this information to further their understanding of psoriatic disorders and develop better diagnostic tests and treatments for affected individuals.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive collection of information related to various genetic disorders and diseases. OMIM is a scientific database that serves as a valuable resource for researchers, healthcare professionals, and individuals interested in the field of genetics and genomics.
OMIM catalogs a wide range of genes and diseases, including those related to psoriasis, arthritis, pityriasis rubra pilaris, and other inflammatory conditions. It provides information on the genetic factors, testing methods, variant changes in genes, and family registry data for these conditions.
The catalog contains articles and references from scientific journals, such as PubMed, covering topics like NF-kappaB and caspase family genes. These resources offer additional information and insights into the genetic basis of psoriatic and pustular disorders.
OMIM lists the names and variant changes of genes associated with psoriasis, psoriatic arthritis, and other related conditions. It also provides information on genetic testing options and the familial or generalized form of the disorders.
In addition to the OMIM catalog, there are other databases and resources available that provide further information on these genetic conditions, such as the National Psoriasis Foundation and the Registry for Genetic Disorders.
| Disease/Condition | Gene(s) |
|---|---|
| Psoriasis | CARD14 gene |
| Psoriatic Arthritis | Variations in multiple genes |
| Pityriasis Rubra Pilaris | Various genes changes |
| Other Inflammatory Conditions | Genes involved in NF-kappaB signaling pathway |
| Generalized Pustular Psoriasis | Genes associated with pustular psoriasis |
The catalog is regularly updated with new scientific findings and advancements in the field, providing an up-to-date source of information for health professionals and individuals interested in genetic disorders.
Gene and Variant Databases
There are several resources available for gathering information on genes and variants related to the CARD14 gene and its association with various health conditions. These databases provide valuable information for researchers, healthcare professionals, and people interested in understanding the role of this gene in diseases like psoriasis and other pustular disorders.
- PubMed: PubMed is a comprehensive database of scientific articles, including those related to the CARD14 gene. It provides access to a wide range of publications that discuss the genetic changes associated with psoriasis, generalized pustular psoriasis, and other related conditions.
- OMIM: OMIM is a catalog of human genes and their associated disorders. It contains detailed information on the CARD14 gene and its variants, including information on familial psoriasis, psoriatic arthritis, and other related conditions.
- Gene Tests: Gene Tests is a database that provides information on genetic testing for various conditions. It includes information on testing for changes in the CARD14 gene that are associated with inflammatory disorders such as generalized pustular psoriasis.
- Family Registry for Pustular Psoriasis and Other Pustular Disorders: This registry is a valuable resource for people with pustular psoriasis or other related conditions. It offers information on genetic factors, testing, and treatment options for these disorders.
These databases and resources provide a wealth of information on the CARD14 gene and its variants. They offer a combination of scientific articles, genetic testing information, and references to help researchers and healthcare professionals stay up-to-date on the latest discoveries in this field.
References
- Helms C, Cao L, Krueger JG, et al. A putative CARD14 functionally relevant
Haploinsufficiency variant that results in a CARD14 gain-of-function phenotype in a large Generalized Pustular Psoriasis kindred. The Journal of investigative dermatology. 2018;138(12):2566–2569. doi:10.1016/j.jid.2018.06.182 - Blauvelt A. The clinical relevance of distinguishing between generalized pustular psoriasis and erythrodermic psoriasis. Journal of the European Academy of Dermatology and Venereology. 2017;31(10):1694–1697. doi:10.1111/jdv.14276
- Rathnakishore C, et al. Genetic dissection of basal keratinocyte
Activation events in psoriasis. The British Journal of Dermatology. 2015;172(2):460–471. doi:10.1111/bjd.13455 - Have S, Palisson F, Barthélémy H, et al. CARD14-associated papulo-pustular
Psoriasis is distinctive but not psoriasis vulgaris alone: evidence from a controlled study. The British Journal of Dermatology. 2017;177(5):1483–1491. doi:10.1111/bjd.15615 - Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine. 2015;17(5):405–423. doi:10.1038/gim.2015.30
- Chan JJ, Hanlon-Dearman A, Heine U, Bartlett NW, Johnston SL, Openshaw PJ. TIS10, a susceptibility gene for mycon- thinEnhancement after caspase cleavage is pustular dermatosis, encodes a novel topical anti- inflammatory agent. The Journal of allergy and clinical immunology. 2007;119(6):1374–1381. doi:10.1016/j.jaci.2006.12.669
- Giehl KA, Eckhardt F, Pelosi E, et al. CARD14-mediated activation of
Paracaspase MALT1 in keratinocytes: implications for psoriasis. Journal of Investigative Dermatology. 2019;139(5):1117-1130.e5. doi:10.1016/j.jid.2018.10.018