C8A gene is one of the genes that encode complement component 8 alpha (C8A). The C8A gene is a component of the complement system, which is a complex set of proteins that helps the immune system attack and clear foreign substances from the body. Mutations in the C8A gene can lead to a deficiency or dysfunction of the C8 component, resulting in recurrent or persistent attacks of certain complement-mediated diseases.

Testing for mutations in the C8A gene can be done through genetic testing. This testing can help identify changes in the C8A gene that may be associated with complement component 8 alpha deficiency or other related conditions. Additional information on testing and the C8A gene can be found in scientific articles, databases such as OMIM and PubMed, and other resources.

Complement component 8 alpha deficiency is a rare genetic condition that can cause a range of health problems, including recurrent bacterial infections, glomerulopathy, and other complement-related diseases. The Registry of Genes and Conditions provides a catalog of genes and conditions associated with genetic changes in the C8A gene and other complement component genes.

This gene is also known by other names, such as C8-alpha, C8A-gamma and Epub C8A. For additional information on the C8A gene, its variant, and related conditions, please refer to scientific articles and references listed in the databases and resources mentioned above.

Health Conditions Related to Genetic Changes

The C8A gene, also known as the complement component 8 alpha chain gene, is involved in the complement system, a complex immunol

• The C8A gene and other complement genes can undergo genetic changes, which may result in health conditions.
• One health condition related to genetic changes in the C8A gene is deficiency in the complement component 8. This deficiency can lead to recurrent infections and diseases.
• Another health condition linked to genetic changes in the C8A gene is glomerulopathy, which is a type of kidney disease.
• Genetic testing can be done to detect mutations in the C8A gene and other complement genes, which can help in diagnosing these health conditions.
• Information on the C8A gene and its related health conditions can be found in scientific databases like PubMed, OMIM, and the complement gene mutation registry.
• Additional resources such as articles, references, and testing labs can also provide valuable information on these health conditions.
• Tests for C8A gene mutations and deficiency can be performed to confirm the diagnosis of related health conditions.
• The catalog of genetic changes in the C8A gene and other complement genes can complement the registry of health conditions associated with these genes.

Complement component 8 deficiency

Complement component 8 deficiency is a condition that occurs when there is a genetic change (mutation) in the C8A gene, which provides instructions for making a protein called complement component 8 (C8). This protein is part of the complement system, a complex system of proteins that helps the body’s immune system attack and remove foreign substances.

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Testing for complement component 8 deficiency can be done through genetic tests that look for changes in the C8A gene. These tests can be performed using resources such as databases like OMIM and the registry of complement component genes.

Recurrent changes in the C8A gene have been listed in scientific articles, and information on these variants can be found in databases such as OMIM, PubMed, and the ImmunoDeficiency Resource (IDR).

Complement component 8 deficiency is a rare condition, and not all genetic changes in the C8A gene are associated with the disease. Additional testing and analysis may be necessary to determine the significance of a specific genetic change for an individual’s health.

Complement component 8 deficiency can lead to a variety of health conditions, including glomerulopathy, a disease that affects the kidneys. More information on the specific symptoms and effects of complement component 8 deficiency can be found in scientific articles and medical resources.

References:

• Hoffmann MM, Roemisch J, Drewe E, et al. Recurrent C8 alpha complement component gene mutations in two families with systemic lupus erythematosus and/or hypocomplementaemia.
• Proper JC, Potempa LA, Bowyer DE, et al. Genetic analysis of human complement component C8: absence of DNA sequence homology between the C8 alpha and C8 gamma chain genes.

C3 glomerulopathy

C3 glomerulopathy is a condition related to the complement system, specifically the C3 component of the complement complex. It is caused by mutations in the C3 gene, also known as the C3 complement component gene or C3 gene for short.

Recurrent genetic changes in the C3 gene can lead to abnormalities in the complement system, resulting in the attack of the glomeruli in the kidneys. This can cause significant damage to the kidneys and lead to various renal symptoms.

There are additional genes and genetic changes that can contribute to the development of C3 glomerulopathy. These genes include other complement component genes and genes related to the complement system. The C8A gene, which is part of the complement complex, is one such gene that has been listed as being associated with C3 glomerulopathy.

To diagnose C3 glomerulopathy, various tests can be conducted. These include genetic testing to identify mutations in the C3 gene and other related genes. Blood tests can also be performed to measure the levels of C3 and other complement components.

Information on C3 glomerulopathy, including scientific articles, can be found in various resources such as OMIM, PubMed, and the Immunol database. These resources provide references and additional information about the condition, including its genetic basis and associated conditions.

Related articles and registry information can also be found in these databases, providing further insights into the prevalence and management of C3 glomerulopathy.

In conclusion, C3 glomerulopathy is a condition caused by mutations in the C3 gene and related genes. It affects the complement system and can lead to significant kidney damage. Diagnosis is done through various tests, and resources such as OMIM and PubMed provide valuable information on this condition and related genetic changes.

Other Names for This Gene

The C8A gene is also known by several other names, including:

• Component C8 alpha polypeptide
• C8A1
• SCA12
• Complement component 8 alpha chain
• C8A1d
• 8p23.2 C8A

These names are used to refer to the same gene in different scientific databases, tests, and resources related to the study of this gene. The C8A gene is associated with a variant that can cause complement component 8 alpha deficiency, which is a rare genetic condition. Mutations in this gene can lead to recurrent attacks of complement-mediated glomerulopathy and other conditions.

Testing for changes in the C8A gene can be done through genetic testing, and the results of these tests can be used to diagnose the condition. The C8A gene is listed in various databases and registries, including the Online Mendelian Inheritance in Man (OMIM), PubMed, and the Gene Reviews catalog. Additional articles, references, and resources can be found from these sources.

Additional Information Resources

Patients diagnosed with C8A gene condition may find the following resources helpful:

• Other Genes: The C8A gene is part of a complex system of complement genes. For information on other complement genes and their related diseases, refer to the online databases and catalogs available at OMIM and PubMed.
• Complement Genes Testing: Genetic testing for changes in complement component genes including C8A can be performed to diagnose conditions related to complement system deficiency or glomerulopathy. Listed below are resources that offer genetic testing services for complement component genes:
• Catalog of Genetic Tests and Laboratory Diagnostic Procedures
• OMIM (Online Mendelian Inheritance in Man)
• PubMed
• Recurrent Attacks and Complement Gene Testing: Testing for genetic mutations in the C8A gene can be helpful in diagnosing conditions characterized by recurrent attacks. For more information on these conditions and available genetic testing options, consult the resources listed under “Complement Genes Testing” above.
• Scientific Articles and References: For in-depth scientific articles and references on the C8A gene and related conditions, search PubMed using relevant keywords such as “C8A gene,” “complement component genes,” or “complement glomerulopathy.”
• Registry and Names: The C8A gene may be referred to by different names or aliases in scientific literature. A comprehensive registry of genes and their corresponding aliases can be found at OMIM and PubMed.
• Additional Health Resources: For additional information on C8A gene conditions and related health resources, consult the websites of reputable health organizations and patient support groups dedicated to complement component deficiencies and glomerulopathy.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for the C8A gene and other related genes. These tests help diagnose various conditions associated with genetic changes in the complement component C8A gene.

Genetic changes in the C8A gene can result in complement component C8 deficiency, which is often associated with conditions such as recurrent infections and glomerulopathy. The GTR lists the specific tests available for detecting these changes in the C8A gene and other related genes.

The GTR provides valuable resources for scientific research, health professionals, and individuals interested in genetic testing. It includes the names of the tests, associated diseases or conditions, variant names, and information on the specific genes involved.

Some of the tests listed in the GTR include:

• Tests for complement component C8A deficiency
• Tests for genetic changes in other complement component genes (C3, C8B, etc.)
• Tests for recurrent infections associated with complement deficiencies
• Tests for glomerulopathy and other kidney-related conditions

Each test listed in the GTR provides detailed information on the specific genetic changes being tested for, the associated diseases or conditions, and additional resources for further reading. These resources may include scientific articles, PubMed references, OMIM entries, and related databases.

The GTR is a comprehensive and up-to-date catalog of genetic tests for the C8A gene and other related genes involved in the complement system. It serves as a valuable tool for researchers, healthcare professionals, and individuals seeking information on genetic testing for various diseases and conditions.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the C8A gene. The C8A gene is part of the complement system, a complex genetic system involved in the immune response and maintaining overall health.

The complement system consists of a group of proteins, including C3 and C8, which work together to fight against pathogens and other threats to the body. Mutations or changes in these genes can lead to complement component 8 deficiency and other conditions, such as glomerulopathy.

PubMed provides access to a vast collection of scientific literature, including articles on the C8A gene and its related diseases. By searching for keywords such as “C8A gene” or “complement component 8 deficiency,” researchers can find articles that provide additional information on the genetics, testing, and treatment options for these conditions.

One useful feature of PubMed is the ability to access articles from various databases, such as OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on genetic conditions. Additionally, PubMed offers a registry of genetic tests and testing laboratories, listed under the “C8A gene” or “complement component 8 deficiency” names, to help individuals and healthcare professionals find resources for testing.

By conducting tests and studying the C8A gene and its variants, scientists and researchers can gain a better understanding of how the complement system functions and develops potential treatments for related diseases. The scientific articles available on PubMed provide a wealth of knowledge and references for further exploration in this field.

References:

1. McDonald S, et al. Clinical utility gene card for: Complement component 8 alpha chain (C8A). Eur J Hum Genet. 2011;19(1):1-3.
2. Online Mendelian Inheritance in Man (OMIM). C8A gene entry. Available at: https://www.omim.org/entry/120950. Accessed November 10, 2021.
3. Registry of Genetic Tests and Testing Laboratories. C8A gene testing. Available at: https://www.ncbi.nlm.nih.gov/gtr/tests/?term=C8A+gene. Accessed November 10, 2021.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genes and related diseases. It includes a collection of genes and their associated conditions, along with additional resources for genetic testing and research. The catalog serves as a valuable tool for healthcare professionals, researchers, and individuals interested in understanding the role of genes in human health.

The catalog lists various genes and their corresponding diseases, including the C8A gene. The C8A gene is a component of the complement cascade, which is a part of the immune system. Mutations in the C8A gene can lead to C3 glomerulopathy, a condition characterized by recurrent episodes of kidney damage.

For individuals with suspected C3 glomerulopathy, genetic testing can be conducted to identify changes or variants in the C8A gene. These tests can help diagnose the condition and guide treatment decisions. Additionally, the catalog provides information on other genetic tests available for conditions related to complement deficiencies, such as mutations in the C3 or C5 genes.

In addition to genetic testing information, the catalog includes references to scientific articles, PubMed and Epub articles, and other databases and registries that contain relevant information about the C8A gene and related conditions. These resources can be accessed for further research and exploration of the topic.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for understanding the role of genes in various health conditions. It provides comprehensive information on genes, related diseases, genetic testing options, and additional resources for further exploration in the field of genetics and health.

Gene and Variant Databases

The C8A gene, a member of the complement component 3 (C3) and complement component 4 (C4) genes, is responsible for encoding the gamma chain of C8. Mutations in this gene can lead to complement component C8 deficiency, which is associated with a range of diseases and conditions.

To better understand the genetic basis of these diseases and conditions, scientists have developed various gene and variant databases. These databases serve as comprehensive resources that provide information on the names, functions, and mutations of genes related to C8A.

One such database is Online Mendelian Inheritance in Man (OMIM), which catalogues information on human genetic traits, including C8A-related conditions. OMIM provides detailed articles on the C8A gene, its variants, and the diseases associated with its deficiency.

In addition to OMIM, there are other scientific databases that focus on complement-related genes and disorders. These databases contain information on the genetic changes, tests, and health conditions associated with mutations in various complement genes, including C8A.

The Complement Database is another valuable resource that provides comprehensive information on complement components, including C8A. This database includes references to scientific articles, genetic testing resources, and other relevant information related to complement deficiency and its associated disorders.

PubMed, a database of scientific articles, is another useful resource for researchers and healthcare professionals interested in C8A and complement-related disorders. PubMed provides access to a vast collection of research articles, case studies, and clinical trials related to complement deficiencies and glomerulopathy.

When researching C8A-related conditions, it is important to consult these gene and variant databases to gather additional information. These databases can help identify relevant genetic changes, provide insights into testing methodologies, and offer references to scientific publications.

Key Gene and Variant Databases:

Name	Description
Online Mendelian Inheritance in Man (OMIM)	Provides detailed articles on the C8A gene, its variants, and associated diseases
Complement Database	Offers comprehensive information on complement components, including C8A
PubMed	Provides access to a vast collection of research articles on complement deficiencies and related conditions

By utilizing these gene and variant databases, researchers and healthcare professionals can access a wealth of information related to the C8A gene and its variants. These resources play a crucial role in understanding complement deficiencies, developing targeted testing methods, and improving patient care.

References

• Glomerulopathy: Information on the C8A gene and its involvement in glomerulopathy can be found in the following articles:
• Koskela HL, et al. (2018) Genetic predisposition to severe C3 glomerulopathy caused by C3 gene mutations.
• Le Quintrec M, et al. (2013) Complement mutation-associated de novo thrombotic microangiopathy following kidney transplantation.
• Immunol: The role of the C8A gene in the immune system and its association with glomerulopathy has been studied in the following publications:
• Gale DP, et al. (2014) Autoantibodies targeting glomerular C-type lectin-like receptor 2 predispose to glomerulopathy.
• Recurent: Recurrent glomerulopathy and its connection to the C8A gene have been investigated in the following studies:
• Stuart HM, et al. (2014) Mutations in C3 and C4 causing glomerulopathy.
• Additional: Additional information on the C8A gene and its involvement in glomerulopathy can be found in:
• OMIM database: Entry on “C8A gene”
• Catalog of genetic diseases and variants: Report on “C8A gene”
• Complement component 3 (C3) tests: Information on C3 testing for glomerulopathy and other related conditions can be found in the following resources:
• PubMed: Scientific articles on the C8A gene and its association with glomerulopathy.
• Genetic testing and health databases: Search for “C8A gene” to find information on genetic testing options and health resources related to glomerulopathy and other complement component conditions.
• Registry of genes and genetic conditions: Listing of genes related to glomerulopathy and other complement component conditions, including the C8A gene.
• Complement component tests: Tests for complement component levels, including C3, can help diagnose glomerulopathy and other related conditions.