The C3 gene is a variant gene that plays a crucial role in the development of several age-related macular degeneration and other related diseases. C3 is one of the proteins in the complement system, a part of the immune system that helps to protect against infection and maintain overall health.

There are several databases and resources available for accessing information on the C3 gene and related disorders. These include OMIM, PubMed, and other genetic testing databases. These resources provide references to scientific articles, information on genetic tests, and additional resources for understanding the changes in the C3 gene that can trigger these disorders.

Catalogs and registries provide a comprehensive list of gene names and variants associated with C3 gene-related disorders. Genetic testing is available for these disorders, including hemolytic-uremic syndrome and glomerulopathy. These tests can help in the diagnosis and management of these conditions.

Overall, the C3 gene plays a significant role in several age-related macular degeneration and other related disorders. Understanding the genetics of the C3 gene can provide valuable insights into the development and treatment of these conditions.

Genetic changes in the C3 gene can lead to various health conditions. The C3 gene encodes the C3 component of the complement system, which is an important part of the immune system.

One health condition related to genetic changes in the C3 gene is age-related macular degeneration (AMD). Certain C3 gene variants have been found to be associated with an increased risk of developing AMD. These genetic changes can trigger abnormal immune responses in the eye, leading to the degeneration of the macula.

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Another health condition related to genetic changes in the C3 gene is atypical hemolytic-uremic syndrome (aHUS). This rare disorder is characterized by the abnormal breakdown of red blood cells and the formation of blood clots in small blood vessels. Mutations in the C3 gene can disrupt the normal function of C3 proteins, leading to the development of aHUS.

The C3 gene is also associated with other health conditions, such as C3 glomerulopathy and C3-related disorders. Genetic changes in the C3 gene can result in abnormal protein production and dysregulation of the complement system, leading to kidney glomerulopathy and other related disorders.

To learn more about the specific genetic changes and health conditions related to the C3 gene, the C3 gene variant catalog, OMIM database, and PubMed articles can be valuable resources. These databases provide general and scientific information on the C3 gene, related disorders, and genetic testing options.

Genetic testing can help identify specific genetic changes in the C3 gene and provide additional information for diagnosis and treatment. It can also be useful for identifying other genetic changes that may be contributing to a person’s health condition.

In summary, genetic changes in the C3 gene can have significant implications for a person’s health. Various health conditions, including age-related macular degeneration and atypical hemolytic-uremic syndrome, have been linked to genetic changes in the C3 gene. Resources such as the C3 gene variant catalog, OMIM database, PubMed articles, and genetic testing can provide more information on these conditions and the role of the C3 gene.

Atypical hemolytic-uremic syndrome

Atypical hemolytic-uremic syndrome (aHUS) is a rare disorder characterized by a triad of hemolytic anemia, thrombocytopenia, and acute kidney injury. It is a diseases involving the complement system, specifically mutations in the C3 gene. There are other genes involved in aHUS but this article will focus on the C3 gene.

The C3 gene, also known as complement component 3, is listed in various genetic databases such as OMIM (Online Mendelian Inheritance in Man) as one of the genes associated with aHUS. Changes in this gene can trigger the development of atypical hemolytic-uremic syndrome.

Scientific articles and references to genetic changes in the C3 gene can be found in PubMed, a general resource for scientific articles. Additional information about the C3 gene and its role in aHUS can also be found in the C3 gene catalog.

Genetic testing for mutations in the C3 gene can be useful in diagnosing aHUS. Tests can determine if a patient has a variant of the C3 gene that is associated with atypical hemolytic-uremic syndrome. These tests can be done at any age, as aHUS can manifest at any stage of life.

It is important for healthcare professionals to be aware of the C3 gene and its association with aHUS. Early diagnosis and treatment are crucial in managing the disorder and minimizing its complications.

In summary, aHUS is a rare disorder involving the C3 gene and other genes. Genetic testing for mutations in the C3 gene can help diagnose this condition. Healthcare professionals can find more information about aHUS and the C3 gene in genetic databases, scientific articles, and other resources related to genetics and inherited conditions.

C3 glomerulopathy

C3 glomerulopathy is a disorder that affects the kidneys. It is caused by changes in the C3 gene, which is responsible for producing the C3 protein. This protein plays a crucial role in the immune system and helps to protect the body against infections.

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In C3 glomerulopathy, there are abnormalities in the C3 protein, leading to the accumulation of the protein in the glomeruli of the kidneys. This can cause inflammation and damage to the kidneys, leading to impaired kidney function over time.

The exact mechanisms by which the gene mutations lead to C3 glomerulopathy are not fully understood. However, research has shown that the C3 gene mutations can trigger an abnormal immune response that leads to the deposition of the C3 protein in the kidney glomeruli.

C3 glomerulopathy is a rare disorder, and its prevalence is not well-defined. It can occur at any age, but it is most commonly diagnosed in childhood or early adulthood.

Symptoms and Diagnosis

The symptoms of C3 glomerulopathy can vary significantly from person to person. Some individuals may have no symptoms at all, while others may experience symptoms such as blood in the urine, swelling in the legs or feet, high blood pressure, and decreased urine output.

Diagnosing C3 glomerulopathy can be challenging, as the symptoms can be similar to other kidney disorders. A variety of tests and evaluations may be performed, including blood and urine tests, imaging studies, and kidney biopsy. Genetic testing may also be recommended to identify specific mutations in the C3 gene.

Treatment and Management

Currently, there is no cure for C3 glomerulopathy. Treatment aims to manage symptoms and slow down the progression of kidney damage. This may include medications to control high blood pressure and reduce inflammation, as well as dietary changes to manage kidney function.

Regular monitoring of kidney function is essential for individuals with C3 glomerulopathy. This may involve regular blood and urine tests, as well as imaging studies to assess the health of the kidneys. In some cases, kidney transplantation may be necessary if kidney function deteriorates to the point where dialysis is required.

Resources and Support

There are several resources available for individuals and families affected by C3 glomerulopathy. The C3G Registry is a database that collects information on individuals with C3 glomerulopathy for research purposes. Additionally, there are genetic testing and counseling services available to provide information and support regarding the genetics of this disorder.

Scientific articles and research publications on C3 glomerulopathy can be found in databases such as PubMed and OMIM. These resources provide valuable information on the genetic variants, testing methods, and management of C3 glomerulopathy.

In conclusion, C3 glomerulopathy is a rare disorder caused by gene mutations in the C3 gene. Its exact mechanisms and prevalence are still being studied. Diagnosis can be challenging, and treatment focuses on managing symptoms and slowing down kidney damage. Resources and support are available for individuals and families affected by this condition.

Age-related macular degeneration

Age-related macular degeneration (AMD) is a disorder that affects the macula, which is the central part of the retina responsible for sharp, central vision. AMD primarily occurs in older adults and can result in a significant loss of central vision.

Studies have shown that genetic factors play a role in the development of AMD. The C3 gene is one of the genetic variants that can trigger this disorder. The C3 gene is listed in the general catalog of genetic variants as a gene associated with AMD. Additional genetic changes in the C3 gene have been linked to atypical hemolytic-uremic syndrome and C3 glomerulopathy.

For more information on the C3 gene and related conditions, resources such as OMIM, scientific articles in PubMed, and genetic testing databases can provide valuable information. These resources can provide information on the genetics of age-related macular degeneration and other related disorders.

Testing for C3 gene variants and other genetic changes can be done to determine the risk of developing age-related macular degeneration and other related conditions. These tests can provide valuable information for early detection and intervention.

In conclusion, age-related macular degeneration is a disorder that affects the macula and can result in a loss of central vision. The C3 gene and its variants can trigger this disorder, and additional genetic changes in the C3 gene have been associated with related conditions. Resources such as OMIM, PubMed, and genetic testing databases can provide valuable information on the genetics of age-related macular degeneration and related disorders.

Other disorders

The C3 gene is involved in the pathogenesis of various disorders. Below is a list of other disorders that have been associated with C3 gene mutations:

  • Hemolytic-uremic syndrome: This is a rare disorder characterized by the destruction of red blood cells, kidney failure, and low platelet count. Mutations in the C3 gene can trigger this syndrome.
  • Atypical hemolytic-uremic syndrome: This is a rare genetic condition that causes abnormal blood clotting, leading to kidney failure. C3 gene mutations are known to be one of the underlying causes of this condition.
  • Macular degeneration: Age-related macular degeneration (AMD) is a progressive eye disease that affects the central part of the retina, leading to vision loss. Certain genetic variants of the C3 gene have been found to be associated with an increased risk of developing AMD.
  • Glomerulopathy: Glomerulopathy refers to a group of kidney diseases that affect the glomeruli, which are responsible for filtering blood. Some forms of glomerulopathy have been linked to genetic changes in the C3 gene.
  • Other genetic conditions: The C3 gene has also been implicated in other rare genetic disorders and diseases. Some of these conditions include age-related macular degeneration, atypical hemolytic-uremic syndrome, and general glomerulopathy.

For more information on these disorders and the role of the C3 gene in their development, you can refer to the following resources:

  1. Databases and registries: There are various databases and registries that provide comprehensive information on genetic disorders, including those associated with the C3 gene. These resources can be useful for researchers, healthcare professionals, and individuals seeking more information on specific disorders.
  2. Genetic testing: Genetic tests can help identify specific gene variants or mutations associated with certain disorders. Testing for C3 gene mutations may be available for certain conditions, helping to diagnose and understand the underlying genetic causes.
  3. Scientific articles and references: Many scientific articles and references are available on platforms like PubMed and OMIM, providing in-depth information on the C3 gene and its role in various disorders. These articles can be useful for researchers and healthcare professionals looking to stay updated on the latest scientific findings.
  4. Health information and support: Several healthcare organizations and patient support groups provide additional resources and information on disorders associated with the C3 gene. These resources can help individuals better understand their condition, explore treatment options, and connect with others facing similar challenges.
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It is important to note that this list is not exhaustive, and there may be other disorders or conditions related to the C3 gene that are not listed here. For comprehensive and specific information, it is recommended to consult relevant medical resources and experts.

Other Names for This Gene

The C3 gene is also known by other names:

  • Component 3
  • Gene for C3 protein
  • C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1
  • Atypical hemolytic-uremic syndrome 5
  • Age-related macular degeneration 9
  • ON MANIFESTATION 1
  • DNFA21
  • C3b/C4b inactivator
  • C3 and PZP-like alpha-2-macroglobulin domain-containing protein 2
  • Complement component 3 precursor
  • C3S

These are some of the names that have been used to refer to the C3 gene in scientific articles and genetic databases. The C3 gene is associated with a range of disorders and conditions, including atypical hemolytic-uremic syndrome, age-related macular degeneration, and other rare diseases. Changes in this gene can trigger these disorders and lead to a variety of health problems. Testing for variants in the C3 gene is available through genetic testing and is often performed to assess the risk of developing these conditions.

For more information on the C3 gene and related disorders, you can refer to the following resources:

  1. PubMed: A database of scientific articles with information on the C3 gene and associated conditions.
  2. OMIM: A comprehensive catalog of human genes and genetic disorders, including the C3 gene.
  3. Genetic testing registries: Databases that list available genetic tests for the C3 gene and related conditions.
  4. References and additional resources: Additional sources of information on the C3 gene and its role in various disorders.

The C3 gene is an important component of the complement system, a group of proteins that play a key role in the immune response. Understanding the genetics of the C3 gene can provide valuable insights into the development and treatment of related diseases.

Additional Information Resources

  • C3 gene-related articles can be found on PubMed, a database of scientific publications.
  • Information on C3 gene-related diseases can be found on OMIM (Online Mendelian Inheritance in Man) database.
  • For more information on hemolytic-uremic syndrome and other disorders related to C3 gene, you can refer to the articles listed in the references section.
  • Testing for changes in the C3 gene can be done through genetic tests. These tests can help diagnose conditions such as atypical hemolytic-uremic syndrome and age-related macular degeneration.
  • If you suspect a genetic variant in the C3 gene, you may consider contacting a genetics registry or a genetic testing center for more information.
  • Genetic testing may also be available for other related genes and proteins involved in complement component 3 (C3) function.
  • Additional resources for information on C3 gene and related conditions can be found in various genetic databases and health information websites.
  • These resources can provide general information on the disorder, genetic testing, and available treatments.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying and understanding various health conditions. In the case of the C3 gene, there are several tests listed in the Genetic Testing Registry that focus on this gene and related disorders. These tests provide valuable insights into the genetic component of diseases such as age-related macular degeneration, atypical hemolytic-uremic syndrome, and C3 glomerulopathy.

General Information and Resources:

  • Genetic Testing Registry (GTR): The GTR is a comprehensive catalog of genetic tests and related information. It serves as a reliable resource for finding tests specific to the C3 gene and various genetic disorders.
  • PubMed: PubMed is a scientific database that provides access to a vast collection of research articles. It can be used to explore studies and references related to C3 gene testing and diseases.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a database that offers information on genetic disorders, genes, and variations. It contains valuable data on rare genetic conditions associated with the C3 gene.

Tests Listed in the Genetic Testing Registry:

Condition/Disease Gene Testing Method
Age-Related Macular Degeneration C3 Sequence analysis of the entire coding region
Atypical Hemolytic-Uremic Syndrome C3 Next-generation sequencing
C3 Glomerulopathy C3 Deletion/duplication analysis

Additional Tests and Resources:

  • Other genes related to these conditions: In addition to the C3 gene, there may be other genes associated with age-related macular degeneration, atypical hemolytic-uremic syndrome, and C3 glomerulopathy. Further testing may be required to assess their involvement.
  • Variant databases: Various databases exist, such as the Human Gene Mutation Database (HGMD), where genetic variants associated with different conditions are documented. These databases can provide further information on specific variants related to the C3 gene.

The tests listed in the Genetic Testing Registry offer valuable insights into the genetic aspects of conditions related to the C3 gene. By understanding the role of this gene and related proteins, researchers and healthcare professionals can make informed decisions regarding diagnosis and treatment.

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References:

  1. Genetic Testing Registry (GTR). (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/
  2. PubMed. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/
  3. Online Mendelian Inheritance in Man (OMIM). (n.d.). Retrieved from https://www.omim.org/

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the C3 gene and its rare variants. These articles provide information on the genetic changes associated with C3-related disorders, such as atypical hemolytic-uremic syndrome and age-related macular degeneration.

Researchers can find references to these articles in the PubMed database, which catalogs scientific literature from various genetic and health-related disciplines. The articles listed in PubMed provide important insights into the role of the C3 gene in these disorders and offer valuable information for genetic testing and diagnosis.

The C3 gene is a critical component of the complement system, a group of proteins involved in the body’s immune response. Changes in this gene can trigger glomerulopathy and other related conditions.

In addition to the C3 gene, PubMed also contains articles on other genes associated with C3-related disorders. These articles explore the genetic basis of these conditions and offer resources for further research and understanding.

Genetic testing for conditions related to the C3 gene can be conducted using various tests and databases listed in PubMed. These tests help identify rare variants and genetic changes in the C3 gene and other related genes.

Articles on PubMed also provide information on the general health implications of C3-related disorders. They explore the impact of these conditions on overall health and may offer insights into potential treatment strategies.

In summary, PubMed is a valuable resource for researchers and healthcare professionals seeking scientific articles related to the C3 gene and its role in various disorders. It offers a wealth of information on genetic changes, testing resources, and the general health implications of C3-related conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for genetic information on various disorders. It provides information on genetic conditions, including rare disorders, age-related degeneration, and other scientific conditions related to gene components.

The gene C3 is listed in the Catalog and is associated with various disorders, including hemolytic-uremic syndrome and atypical hemolytic-uremic syndrome. These disorders trigger the degeneration of proteins and lead to health problems.

The Catalog provides general information on the C3 gene and its related disorders. It includes the names of the disorders, genetic testing resources, and additional databases for further research.

For specific information on the gene C3 and related disorders, the Catalog provides references to scientific articles from PubMed. These articles contain detailed information on the genetics, variant proteins, and testing methods for these disorders.

In addition to the gene C3, the Catalog also includes information on other genes and diseases. It serves as a valuable resource for researchers, healthcare professionals, and individuals who want to learn more about genetic disorders and their associated genes.

Overall, the Catalog of Genes and Diseases from OMIM is a comprehensive and reliable resource for genetic information. It provides a wealth of information on various genetic disorders, including those related to the C3 gene.

Gene and Variant Databases

Genes are the basic units of hereditary information that determine our traits and characteristics. Variant databases are resources that provide information about genetic variations in these genes and their associated diseases and conditions.

There are several databases available that compile information on genes and variants. These databases serve as valuable references for researchers and healthcare professionals in the field of genetics.

PubMed is a well-known database that provides access to a vast collection of scientific articles and publications related to genetics. It is a valuable resource for finding references and research studies on genes and variants.

For specific genetic disorders like hemolytic-uremic syndrome and glomerulopathy, gene and variant databases can provide additional information on the genes involved and their associated variants. These databases can help researchers and clinicians better understand the genetic component of these disorders and develop more targeted diagnostic tests and treatments.

One example of a gene and variant database is the Online Mendelian Inheritance in Man (OMIM) database. It catalogues information on rare genetic diseases and provides comprehensive information on the genes, variants, and related phenotypes.

Another example is the C3 gene variant registry, which focuses specifically on variants in the C3 gene. This gene is related to conditions such as age-related macular degeneration and atypical hemolytic-uremic syndrome. The registry compiles information on the genetic changes in the C3 gene associated with these conditions.

These gene and variant databases play a crucial role in advancing our understanding of genetic diseases and disorders. They provide a centralized repository of information that can aid in genetic testing, diagnosis, and research.

In conclusion, gene and variant databases are valuable resources that provide comprehensive information on genes, variants, and associated diseases. They serve as references for researchers and healthcare professionals in the field of genetics and play a vital role in advancing our understanding of genetic disorders and conditions.

References

  • General information on C3 gene:
    • Gene Cards – C3 [link]
    • NCBI Gene – C3 [link]
    • OMIM – C3 gene [link]
  • Publications on C3 gene and related disorders:
    • PubMed – C3 gene [link]
    • PubMed – C3-related diseases [link]
  • Catalog and databases for genetic testing:
    • GeneTests Registry – C3 [link]
    • Online Mendelian Inheritance in Man (OMIM) – C3-related disorders [link]
  • Additional resources for genetic information:
    • C3/CFB/CFHR1/CFHR3/CYP21A2 Gene Variant Descriptions [link]
    • Rare Disease Registry of the National Institutes of Health (NIH) [link]
    • Components of the Complement System – Online Resource [link]