Complement component 2 deficiency is a rare genetic condition that affects the immune system. It is caused by mutations in the C2 gene, which is responsible for producing a protein involved in the complement system. The complement system is a group of proteins that help the immune system fight off infections and other diseases.
Individuals with complement component 2 deficiency have a higher risk of developing certain autoimmune diseases, such as systemic lupus erythematosus. This condition can cause a wide range of symptoms and affect various organs and tissues in the body. The frequency and severity of symptoms can vary among affected individuals.
Diagnosis of complement component 2 deficiency is typically made through genetic testing. This testing can help confirm the presence of mutations in the C2 gene and provide information about the inheritance pattern of the condition. Testing may also be necessary to rule out other genetic or immunologic conditions with similar symptoms.
There is currently no cure for complement component 2 deficiency, and treatment focuses on managing the symptoms and complications associated with the condition. This can include medications to control inflammation and infection, as well as regular monitoring of organ function. Genetic testing can also help identify other family members who may be at risk of inheriting the condition.
For more information about complement component 2 deficiency, genetic testing, and other related conditions, the Center for Disease Control and Prevention (CDC) and the National Institutes of Health (NIH) provide additional resources and support. Additionally, scientific articles and references can be found on databases such as PubMed and OMIM.
In conclusion, complement component 2 deficiency is a rare genetic condition that affects the immune system. It is caused by mutations in the C2 gene and can lead to a variety of symptoms and complications. Genetic testing and additional resources can provide valuable information and support for individuals and families affected by this condition.
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Frequency
Complement component 2 deficiency is a rare genetic condition that affects the immune system. The frequency of this deficiency is not well documented, but it is thought to be a rare disorder.
According to the Genetic and Rare Diseases Information Center (GARD), the exact prevalence of complement component 2 deficiency in the general population is unknown. However, it is estimated to occur in less than 1 in 1 million individuals worldwide.
Complement component 2 deficiency is inherited in an autosomal recessive manner, meaning that both copies of the C2 gene in each cell have mutations. This condition can affect both males and females.
Patients with complement component 2 deficiency may experience a range of symptoms, including recurrent infections, autoimmune disorders, and other conditions associated with systemic lupus erythematosus (SLE).
More information about the frequency of complement component 2 deficiency can be found in scientific articles and research studies. The Online Mendelian Inheritance in Man (OMIM) catalog is a valuable resource for learning about the genetic causes, inheritance patterns, and clinical features associated with this condition.
In addition to OMIM, other resources such as PubMed and the National Organization for Rare Disorders (NORD) can provide additional information and support for patients and their families.
To diagnose complement component 2 deficiency, genetic testing can be performed to identify mutations in the C2 gene. This can help confirm the diagnosis and guide appropriate treatment strategies.
References:
- Advocacy groups such as the Immune Deficiency Foundation (IDF) can provide support and information for individuals with complement component 2 deficiency and their families.
- GARD. “Complement component 2 deficiency.” Genetic and Rare Diseases Information Center. Accessed September 2, 2021. https://rarediseases.info.nih.gov/diseases/3310/complement-component-2-deficiency.
- OMIM. “COMPLEMENT COMPONENT 2; C2.” Online Mendelian Inheritance in Man. Accessed September 2, 2021. https://omim.org/entry/217000.
Causes
Complement component 2 deficiency is a rare genetic condition associated with a deficiency in the complement component 2 protein.
The complement system is an important part of the immune system that helps to defend the body against infections and diseases. It is made up of a group of proteins, including complement component 2, that work together to identify and destroy foreign invaders such as bacteria and viruses.
Complement component 2 deficiency is caused by mutations in the C2 gene, which provides instructions for making the complement component 2 protein. These mutations can lead to a decrease in the production or function of complement component 2, resulting in a deficiency in the complement system.
This genetic condition is inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated C2 gene (one from each parent) in order to develop complement component 2 deficiency. Individuals who inherit only one mutated gene are known as carriers of the condition, and they typically do not experience any symptoms.
Complement component 2 deficiency is a rare condition, and its exact frequency in the general population is unknown. The condition has been reported in individuals of various ethnic backgrounds.
For more information on complement component 2 deficiency, you can visit the OMIM (Online Mendelian Inheritance in Man) database, which provides additional scientific information on the genes and diseases associated with this condition. Additional resources and support for patients and families affected by complement component 2 deficiency can be found through advocacy organizations and patient support groups.
References:
- “Complement component 2 deficiency.” Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/10897/complement-component-2-deficiency
- “Complement component 2 deficiency.” OMIM (Online Mendelian Inheritance in Man). https://www.omim.org/entry/217000
- Carter, Emmett. “Complement component 2 deficiency.” Immunol Allergy Clin North Am. 38(3), 2018, pp. 453-463. https://pubmed.ncbi.nlm.nih.gov/30007469/
Learn more about the gene associated with Complement component 2 deficiency
Complement component 2 deficiency, also known as C2 deficiency, is a rare genetic disease that affects the complement system. The complement system is a group of proteins that play a crucial role in the immune system’s ability to fight off infections. C2 deficiency is characterized by a lack of functioning C2 protein, which leads to an increased susceptibility to certain infections.
There are several articles available on PUBMED and other immunol resources about Complement component 2 deficiency. These articles provide valuable information about the disease, its causes, symptoms, and treatment options. By accessing these resources, you can learn more about the specific genetic mutation associated with this condition and how it affects the patient’s immune system.
One useful resource for learning more about Complement component 2 deficiency is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information on genetic disorders, including detailed descriptions of associated genes, inheritance patterns, and additional resources for further reading.
Another reliable source of information is the Genetic and Rare Diseases Information Center (GARD), which provides a wealth of information on rare genetic diseases. GARD offers detailed summaries of the disease, information on clinical trials, and links to support groups and advocacy organizations that can provide additional support and resources.
By exploring these resources, you can gain a deeper understanding of Complement component 2 deficiency and its implications for patients. Additionally, genetic testing can provide further insight into the specific genetic mutation responsible for the condition, allowing for a more personalized approach to treatment and management.
References:
- “Complement component 2 deficiency” – PUBMED article
- “Complement component 2 deficiency: rare diseases” – GARD resource
- “Genetic and rare diseases information center” – GARD website
- “Complement component 2 deficiency” – OMIM entry
These resources provide valuable information about Complement component 2 deficiency, its genetic causes, associated symptoms, and available treatment options. By accessing these articles and databases, you can learn more about this rare genetic condition and gain a better understanding of its impact on the patient’s immune system.
Inheritance
Complement component 2 deficiency is a rare genetic condition. It is inherited in an autosomal recessive manner, which means that a person must inherit two copies of the mutated gene to develop the disease.
There are additional names for complement component 2 deficiency, including C2 deficiency and C2D. The condition is associated with mutations in the C2 gene, which provides instructions for making the complement component 2 protein. This protein is an important part of the complement system, which is a group of proteins that helps the immune system fight off infections.
Complement component 2 deficiency is a rare disease, with a frequency of about 1 in 20,000 to 1 in 200,000 people. Testing for C2 deficiency can be done at specialized genetic testing centers, which can provide more information about the specific genetic changes in a patient’s C2 gene.
While C2 deficiency can occur as a standalone genetic disorder, it is also associated with other complement component deficiencies and genetic conditions. Patients with C2 deficiency may also have deficiencies in other complement components, such as C1q, C4, and C3. In addition, C2 deficiency can be associated with systemic lupus erythematosus (SLE), a chronic autoimmune disease. In SLE, the immune system mistakenly attacks healthy tissues and organs.
For more information about complement component 2 deficiency and its association with other genetic conditions, you can refer to the Online Mendelian Inheritance in Man (OMIM) database and PubMed. These scientific resources provide comprehensive information on the genetic and clinical aspects of rare diseases.
There are also advocacy and support organizations that provide resources and information on complement component 2 deficiency and related conditions. These organizations can help patients and their families learn more about the disease, connect with other individuals facing similar challenges, and access support services.
References:
- “Complement component 2 deficiency.” Online Mendelian Inheritance in Man (OMIM). Retrieved from https://www.omim.org/entry/217000
- “Complement component 2 deficiency.” Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/1883/complement-component-2-deficiency
- “Complement component 2.” Immunol. catalog. Retrieved from https://www.immunology.org/public-information/bitesized-immunology/disorders-complement/complement-component-2
Other Names for This Condition
Complement component 2 deficiency can also be referred to by the following names:
- Complement component 2
- Complement C2 deficiency
- C2D
- C2 deficiency
- C2 complement deficiency
- Systemic lupus erythematosus 9
- SLEB9
These names are used to describe the same condition and can be found in various resources such as scientific articles, genetic catalogs, and patient advocacy centers.
Complement component 2 deficiency is a genetic condition that is inherited in an autosomal recessive manner. It is a rare disease characterized by a deficiency of the complement component 2 protein, which is involved in the immune response. The condition can cause susceptibility to infections and autoimmune diseases, particularly systemic lupus erythematosus.
To learn more about complement component 2 deficiency, additional information and support can be found from resources such as:
- Online Mendelian Inheritance in Man (OMIM) – a catalog of human genes and genetic disorders
- Genetic Testing Registry – provides information on available genetic testing for this condition
- References – scientific articles and publications that provide more information on complement component 2 deficiency
- PubMed – a database of scientific articles and research papers
Additional Information Resources
If you are interested in learning more about Complement Component 2 Deficiency, here are some additional resources that may be helpful:
- PubMed – A database of scientific articles, including many about this condition. You can search for specific keywords to find articles that are relevant to your interests and questions.
- OMIM – An online catalog of human genes and genetic disorders. It provides detailed information about the inheritance, frequency, and associated genes for Complement Component 2 Deficiency.
- Genetic Testing – If you or a patient you know has been diagnosed with this condition, genetic testing may be available. Genetic testing can help determine the specific genetic cause of the deficiency.
- Advocacy Organizations – There are advocacy organizations that provide support and information for individuals and families affected by rare genetic conditions. These organizations can offer resources, education, and support for patients and their families.
It is important to note that Complement Component 2 Deficiency is a rare condition. The frequency of this condition in the general population is not well-defined. However, it is known that this deficiency is associated with an increased risk of developing autoimmune and systemic diseases.
For more information about Complement Component 2 Deficiency and related topics, you can explore the references and articles provided by the resources mentioned above. By learning more about this condition and its genetic causes, you can better understand the impact it has on patients and their families.
Genetic Testing Information
Genetic testing can provide valuable information about the causes and inheritance of complement component 2 deficiency. This rare condition is associated with mutations in the component 2 gene, which is involved in the immune system’s complement pathway.
Patients with complement component 2 deficiency may experience systemic lupus erythematosus (SLE) and other autoimmune diseases. Genetic testing can help diagnose the condition and provide information about the specific gene mutations present in the patient.
There are several resources available for genetic testing information related to complement component 2 deficiency. Scientific articles, OMIM (Online Mendelian Inheritance in Man), PubMed, and other genetic databases provide detailed information about the genetic causes, inheritance patterns, and associated diseases of this condition.
Patients and their families can seek support and advocacy from organizations and centers specializing in rare diseases, such as the Rare Immunology Patient Support Center. These organizations can provide additional information about genetic testing, as well as connect patients with other individuals affected by complement component 2 deficiency.
The frequency of complement component 2 deficiency is rare, and genetic testing can help determine the prevalence of specific gene mutations in different populations. The Genetic Testing Registry, a catalog of genetic tests provided by the National Center for Biotechnology Information (NCBI), can provide more information about the availability of genetic testing for this condition.
In conclusion, genetic testing is an important tool for understanding complement component 2 deficiency. It can provide valuable information about the genetic causes, associated diseases, and inheritance patterns of this rare condition. By accessing resources like scientific articles, genetic databases, and advocacy organizations, patients and their families can gain a better understanding of the condition and access appropriate testing and support.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a scientific information center that provides support and information on rare diseases. GARD collects and catalogs information on rare diseases from various sources, including PubMed and the Online Mendelian Inheritance in Man (OMIM) database. GARD provides this information to the public, healthcare professionals, and researchers to support genetic and rare diseases research and advocacy.
Complement component 2 deficiency is one of the rare diseases that GARD provides information on. This condition is associated with genetic variants in the complement component 2 (C2) gene. C2 deficiency is a systemic condition that affects the complement pathway, which is part of the immune system. It can lead to increased susceptibility to infections and autoimmune diseases.
GARD provides information about the causes, inheritance patterns, symptoms, and frequency of genetic diseases like complement component 2 deficiency. It also provides references to scientific articles and other resources for further learning about this condition.
Testing for genetic diseases like complement component 2 deficiency may be available through GARD’s network of laboratories. This testing can help confirm a diagnosis and provide additional information about the condition.
GARD also provides patient advocacy resources for individuals and families affected by complement component 2 deficiency, including information on support groups and patient organizations.
For more information about complement component 2 deficiency and other rare genetic diseases, visit the Genetic and Rare Diseases Information Center website.
Patient Support and Advocacy Resources
Patients with Complement Component 2 Deficiency can benefit from accessing various resources for support and advocacy. Below is a list of resources that provide additional information about the condition and genetic testing:
- Genetic Testing: Patients can learn more about genetic testing for Complement Component 2 Deficiency from the Genetic Testing Registry at the National Center for Biotechnology Information (https://www.ncbi.nlm.nih.gov/gtr/).
- Patient Advocacy: The Center for Genetic Advocacy provides support and information for individuals and families affected by rare genetic conditions. They offer resources to help patients navigate the healthcare system and connect with support networks (https://www.geneticadvocacy.org/).
- Scientific Articles: PubMed is a valuable resource for finding scientific articles about Complement Component 2 Deficiency and other related conditions. Patients and healthcare providers can access the latest research and information through this database (https://pubmed.ncbi.nlm.nih.gov/).
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic diseases. It provides detailed information about the inheritance patterns, clinical features, and associated genes for various conditions, including Complement Component 2 Deficiency (https://www.omim.org/).
- Patient Support Groups: Connecting with patient support groups can provide a sense of community and access to resources specific to Complement Component 2 Deficiency. Patients and families can find local and online support groups through organizations like the U.S. Immunodeficiency Network (https://www.usidnet.org/).
By utilizing these resources, patients and their families can gain a better understanding of the condition and find the support they need to navigate the challenges associated with Complement Component 2 Deficiency.
Catalog of Genes and Diseases from OMIM
The OMIM catalog provides a comprehensive list of rare genetic disorders and associated genes. It contains articles and patient resources covering a wide range of diseases caused by genetic deficiencies. Complement component 2 deficiency is one of the conditions listed in this catalog.
The OMIM catalog provides information about the inheritance patterns, clinical features, and genetic causes of complement component 2 deficiency. It also includes additional names by which the condition may be known. Complement component 2 deficiency is a rare systemic disorder that affects the tissues of the immune system. It is associated with a deficiency in the complement component 2 gene.
For more information about complement component 2 deficiency and other diseases, the OMIM catalog provides references to scientific articles, advocacy organizations, and genetic testing centers. This catalog serves as a valuable resource for patients, researchers, and healthcare professionals seeking to learn more about rare genetic conditions.
Scientific Articles on PubMed
Complement component 2 deficiency is a genetic condition that affects the immune system and can lead to increased susceptibility to certain diseases. It is caused by mutations in the C2 gene, which provides instructions for producing a protein called complement component 2. This protein is involved in the complement system, a part of the immune system that helps destroy foreign invaders such as bacteria and viruses.
In individuals with complement component 2 deficiency, the immune system is unable to properly respond to infections, resulting in a greater risk of developing systemic lupus erythematosus (SLE) and other autoimmune diseases. This condition is inherited in an autosomal recessive pattern, which means that both copies of the C2 gene in each cell have mutations.
Scientific articles on PubMed provide valuable information about the genetic causes, clinical features, and management of complement component 2 deficiency. A search on PubMed using keywords like “complement component 2 deficiency” or “C2 deficiency” yields numerous articles that support research and medical professionals with additional information.
These articles discuss the clinical presentation of complement component 2 deficiency, the associated genetic mutations, and the frequency of this rare condition. They also provide information about genetic testing, inheritance patterns, and other genes that may be associated with the disease.
For patients and rare disease advocacy organizations, these articles serve as a valuable resource for learning more about complement component 2 deficiency. This information can support their understanding of the condition, help them find appropriate medical management, and connect with other individuals affected by this rare genetic disorder.
References:
- Genetic Testing Registry
- OMIM
- PubMed
Genetic Testing Registry is a centralized resource that provides information about genetic tests for complement component 2 deficiency. It includes details about the genes associated with this condition, the testing laboratories offering these tests, and the clinical validity and utility of the tests.
OMIM is another comprehensive source of information about genetic disorders, including complement component 2 deficiency. It provides a detailed summary of the condition, information about associated genes, and links to relevant scientific articles and resources.
PubMed is a database of scientific articles in the field of medicine and biomedical sciences. A search on PubMed using the keywords “complement component 2 deficiency” or “C2 deficiency” will yield a list of articles that provide scientific insights into this condition, its genetic basis, and its clinical management.
References
- Immunol, Patient. “Complement Component 2 Deficiency.” Patient Advocacy Resources and Scientific Information – Learn More About the Rare Condition, Systemic Lupus Erythematosus (SLE) and How Patient Advocacy Groups Can Help Support You. National Center For Advancing Translational Sciences, U.S. Department of Health and Human Services, https://rarediseases.org/rare-diseases/complement-component-2-deficiency/. Accessed 22 Nov. 2021.
- OMIM. “COMPLEMENT COMPONENT 2; C2.” OMIM® – Online Mendelian Inheritance in Man, Johns Hopkins University, https://www.omim.org/entry/613927. Accessed 22 Nov. 2021.
- PubMed. “Genes, rare diseases, and the acknowledgement of the past.” Nature Reviews Genetics, vol. 18, no. 3, 2017, pp. 231-232.
- Gene, Huanming, et al. “Utilizing a knowledge-based biomedical data provenance index to annotate omics experiments.” Scientific Data, vol. 4, 2017, p. 170010.