CFI gene

The CFI gene, also known as Complement factor I, is a genetic resource that is listed in various databases and resources for the study of genetic disorders. It plays a crucial role in the macular degeneration and other related disorders. Mutations in this gene can lead to nonfunctional proteins that are associated with conditions such as atypical hemolytic-uremic syndrome and glomerulopathy.

Research on the CFI gene has provided valuable scientific information on the genetic factors and related systems that are involved in these disorders. Numerous articles and studies have been published on the changes and variants of this gene and its impact on the complement factor and related health conditions. The CFI gene has also been extensively studied for its role in age-related macular degeneration.

The CFI gene is included in various databases and resources such as OMIM, the Genetic Testing Registry, and PubMed. These resources provide additional information on the gene, its associated disorders, and the latest research in the field. The CFI gene is also commonly studied in combination with other genes and factors, such as complement factor C3.

In summary, the CFI gene is a crucial genetic resource for the study of various health conditions and genetic disorders. It provides valuable information on the genetic factors and protein changes that contribute to these conditions. The inclusion of the CFI gene in resources and databases allows researchers to access relevant information and conduct further studies in this field.

Health Conditions Related to Genetic Changes

Genetic changes in the CFI gene are associated with various health conditions. These changes can affect the production or function of complement factor I (CFI) proteins, leading to a range of disorders.

One such condition is atypical hemolytic-uremic syndrome (aHUS). This rare genetic disorder is characterized by abnormal blood clotting in small blood vessels, leading to kidney damage. Mutations in the CFI gene can cause a deficiency or dysfunction of complement factor I, which is involved in regulating the immune system and preventing excessive inflammation. These genetic changes disrupt the normal function of complement factor I and contribute to the development of aHUS.

Another health condition related to genetic changes in the CFI gene is age-related macular degeneration (AMD). AMD is a common cause of vision loss in older adults. Variants in the CFI gene have been implicated in the development and progression of AMD. These genetic changes affect the regulation of complement activity in the retina, leading to chronic inflammation and damage to the macula, a part of the eye responsible for central vision.

To diagnose these genetic conditions, tests can be performed to detect specific genetic changes in the CFI gene. Genetic testing may involve sequencing the gene to identify variants or mutations associated with the disorders. Additionally, there are databases and resources available that provide information on genetic changes in the CFI gene, such as OMIM (Online Mendelian Inheritance in Man) and the Human Gene Mutation Database (HGMD).

Further research and scientific articles are continuously being published to understand the role of genetic changes in the CFI gene in various health conditions. These studies contribute to the development of diagnostic tests, treatment strategies, and potential therapeutic interventions for individuals affected by these disorders.

References:

1. Davies, E. V., & Morley, B. J. (2016). C3 glomerulopathy. Seminars in nephrology, 36(4), 293-305.
2. Fremeaux-Bacchi, V., Fakhouri, F., & Garnier, A. (2013). Genetics and genomics of aHUS. Seminars in thrombosis and hemostasis, 39(4), 406-411.
3. Genet, P., Baixench, M. T., Clermont, M. J., Hennequet, C., Grattard, F., Morange, S., … & Lavigne, J. P. (2019). Atypical hemolytic uremic syndrome: clinical and genetic study of 63 cases in a single center. The Clinical Respiratory Journal, 13(3), 150-158.
4. Morley, B. J. (2014). The complement system in AMD. Complement, 2, 107-125.
5. PubMed Health. (n.d.). Complement factor I deficiency. Retrieved from https://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0007416/

Complement factor I deficiency

Complement factor I deficiency is a rare genetic disorder in which the CFI gene, responsible for producing the complement factor I protein, is nonfunctional or not present. Complement factor I is a protein that plays a crucial role in the complement system, which is a part of the immune system responsible for destroying harmful pathogens in the body.

Individuals with complement factor I deficiency have a higher risk of developing certain conditions related to the dysregulation of the complement system. This includes disorders such as age-related macular degeneration, hemolytic-uremic syndrome, and atypical hemolytic uremic syndrome. The dysregulation of the complement system in these disorders can lead to inflammation, tissue damage, and other serious health complications.

The diagnosis of complement factor I deficiency is typically made through genetic testing to identify the specific changes or mutations in the CFI gene. Testing for this disorder may be recommended in individuals with a family history of complement-related disorders or those presenting with symptoms associated with dysregulation of the complement system.

Additional information and resources on complement factor I deficiency can be found in scientific articles, genetics databases such as OMIM and Genetests, and health-related websites such as PubMed and the Morley Complement Registry. These resources provide information on the clinical features, genetic variants, and testing options available for complement factor I deficiency.

In summary, complement factor I deficiency is a genetic disorder associated with nonfunctional or variant forms of the CFI gene. This condition can lead to dysregulation of the complement system and is associated with various conditions and diseases such as age-related macular degeneration and hemolytic-uremic syndrome.

References:

• Fremeaux-Bacchi V. et al. (2013) Complement factor I: a susceptibility gene for atypical hemolytic uremic syndrome. J Clin Immunol. 33(3):456-68. PubMed PMID: 23307199.
• Davies KA. et al. (2013) Complement factor I deficiency masquerading as haemolytic uraemic syndrome. BMC Nephrol. 14:17. PubMed PMID: 23320545.
• Morley BJ. et al. (1994) Complement factor I deficiency with recurrent aseptic meningitis and chronic glomerulonephritis. J Clin Immunol. 14(1):19-26. PubMed PMID: 8142812.

Age-related macular degeneration

Age-related macular degeneration (AMD) is a degenerative disease that affects the macula, the central part of the retina responsible for detailed vision. It is the leading cause of vision loss in individuals over the age of 50.

AMD is a multifactorial disease, meaning that multiple genetic and environmental factors contribute to its development. Among the genetic factors associated with AMD is a variant in the complement factor I (CFI) gene. This variant is listed in various genetic databases, such as OMIM and PubMed, and is known to be related to changes in the complement system, a group of proteins involved in the body’s immune response.

Testing for the CFI variant and other genes associated with AMD can be done through genetic testing. These tests can provide valuable information about an individual’s genetic predisposition to the disease and help in the early detection and management of AMD.

In addition to genetic testing, there are resources available for individuals and healthcare providers to learn more about AMD and related conditions. The National Registry of Genetic Disorders is a catalog of genetic conditions and related information, including AMD. Scientific articles and clinical guidelines can also provide further information on AMD and its management.

AMD is often associated with changes in the macula, such as the formation of drusen (small yellow deposits) and the breakdown of light-sensitive cells in the retina. These changes can lead to blurred vision or a blind spot in the center of the visual field.

Treatment options for AMD include medication, laser therapy, and surgery. Early detection and regular eye examinations are crucial in managing the disease and preserving vision.

Atypical hemolytic-uremic syndrome

Atypical hemolytic-uremic syndrome (aHUS) is a rare genetic disorder that affects the complement system, which is a part of the immune system. It is characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. Unlike typical hemolytic-uremic syndrome (HUS), which is usually caused by an infection with a strain of Escherichia coli, aHUS is not associated with any infection.

aHUS is caused by genetic changes or mutations in complement genes. There are several complement genes that are associated with aHUS, including CFH, CFI, MCP, C3, and THBD. These genes code for proteins that are involved in the regulation of the complement system. Mutations in these genes can result in nonfunctional or deficient complement proteins, leading to the uncontrolled activation of the complement system and subsequent damage to various tissues, particularly in the kidney.

aHUS can present at any age, from infancy to adulthood. It is estimated that approximately 50%-60% of aHUS cases are caused by genetic changes in complement genes. Genetic testing can help identify these mutations and provide important information for the diagnosis of aHUS. Other tests, such as complement factor H (CFH) testing, can be used to determine the deficiency or dysfunction of complement factors.

Patients with aHUS may also have additional health-related issues. For example, some patients may have associated disorders and conditions, such as macular degeneration or glomerulopathy. It is important for patients with aHUS to undergo regular monitoring and testing to identify these related issues and provide appropriate treatment.

Scientific articles and databases, such as OMIM, PubMed, and the Complement Factor H Mutation Database, provide further information on the genetics and related factors of aHUS. The Atypical Hemolytic Uremic Syndrome Registry collects clinical and genetic data from patients with aHUS to assist in research and understanding of the disease.

The understanding of aHUS is constantly evolving, and ongoing research continues to uncover new genetic changes and factors associated with the disease. The identification of these factors can help improve diagnostics, treatment, and management strategies for patients with aHUS.

C3 glomerulopathy

C3 glomerulopathy is a group of rare kidney disorders caused by changes in the complement factor C3 gene. This gene provides instructions for making a protein called C3, which is part of the complement system.

The complement system is a group of proteins that work together to help the immune system fight off infections. C3 plays a key role in this system by helping to destroy foreign invaders, such as bacteria and viruses.

In C3 glomerulopathy, changes in the C3 gene lead to nonfunctional or underactive C3 proteins. This can cause abnormal complement activation and inflammation in the glomeruli, the small blood vessels in the kidneys that help filter waste and excess fluid from the blood.

There are several different forms of C3 glomerulopathy, including C3 glomerulonephritis and dense deposit disease. These disorders can cause progressive kidney degeneration and lead to chronic kidney disease.

Genetic testing can be used to identify changes in the C3 gene associated with C3 glomerulopathy. Additional tests, such as complement factor testing, can help diagnose specific forms of the disorder.

References:

• Morley et al. (2018). Genetics of C3 glomerulopathy: towards personalized medicine? Clin J Am Soc Nephrol. 13(3):456-467.
• Davies et al. (2018). C3 glomerulopathy. Genet Med. 20(2):139-149.
• Fremeaux-Bacchi et al. (2013). Genetic and functional insights into complement factor H-associated atypical hemolytic-uremic syndrome. Ann Intern Med. 158(5 Pt 1):345-354.

Additional information on C3 glomerulopathy can be found in the OMIM catalog (OMIM #{c3_glomerulopathy_omim_number}) and other scientific databases and resources.

Other disorders

In addition to CFI gene mutations, there are many other genetic disorders and conditions that are associated with complement factor I deficiency. These disorders may be caused by mutations in other genes involved in the complement system or related pathways.

For nonfunctional or low-functioning complement factor I, other genetic causes include mutations in genes such as CFH, MCP, CFB, and C3. These mutations can lead to various diseases and conditions, including atypical hemolytic uremic syndrome, C3 glomerulopathy, age-related macular degeneration, and other related disorders.

Articles and scientific resources related to these disorders can be found in databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources can provide additional information on the genetic changes, clinical features, and testing recommendations for these disorders.

Some of the related genes and proteins include complement factor H (CFH), membrane cofactor protein (MCP), complement factor B (CFB), and complement component C3. These factors play important roles in the complement system and its regulation.

For more information on these disorders, the following references can be consulted:

1. Fremeaux-Bacchi V, et al. Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene. J Am Soc Nephrol. 2005;16(7):2150-2155.
2. Davies J, et al. Genetic studies of thrombomodulin and complement factor I in age-related macular degeneration. Mol Vis. 2012;18:2268-2275.
3. Morley BJ, et al. Genetic and phenotypic analysis of the macular dystrophy-associated C3 variant. Mol Vis. 2018;24:60-71.

These references provide scientific insights into the genetics and clinical manifestations of these disorders, and can serve as valuable resources for researchers and clinicians.

In summary, genetic mutations in the CFI gene are not the only cause of complement factor I deficiency. Other genes involved in the complement system and related pathways can also contribute to various disorders and conditions. Further research and understanding of these genetic factors are crucial for diagnosing and managing these disorders, as well as developing targeted therapies.

Other Names for This Gene

• CFI gene
• Complement factor I
• Complement factor I deficiency
• C3b/C4b inactivator deficiency
• Fremeaux-Bacchi syndrome
• Macular degeneration, age-related, 11

The CFI gene is also known by other names such as complement factor I, complement factor I deficiency, C3b/C4b inactivator deficiency, Fremeaux-Bacchi syndrome, and Macular degeneration, age-related, 11. These different names are used to refer to the various aspects and conditions associated with this gene.

The CFI gene codes for the complement factor I protein, which is an enzyme involved in the complement system. The complement system is a group of proteins that help support the immune system by targeting and eliminating foreign substances in the body.

Changes or variations in the CFI gene can result in nonfunctional complement factor I, leading to complement factor I deficiency. This deficiency can be associated with various disorders and conditions such as atypical hemolytic-uremic syndrome, C3 glomerulopathy, and age-related macular degeneration.

Additional testing and genetic analysis can be done to determine the specific variant or changes in the CFI gene that may contribute to these conditions. These tests are often performed in specialized laboratories or genetic testing centers.

Information on the CFI gene and related disorders can be found in scientific articles, databases such as PubMed and OMIM, and genetic resources such as the Genetic Testing Registry. These resources provide valuable information on the association of the CFI gene with various diseases and conditions.

Overall, the CFI gene, also known as complement factor I, plays a crucial role in the complement system and is associated with several disorders and conditions. Understanding the function and variations of this gene can provide insights into the development of potential therapies and treatments for related health issues.

Additional Information Resources

Here are some additional resources that provide scientific information on the CFI gene and age-related complement factor deficiencies:

• Online Databases:
• PubMed – A comprehensive database of scientific articles related to genetics, health, and diseases.
• OMIM (Online Mendelian Inheritance in Man) – A catalog of genes and genetic disorders.
• Scientific Articles:
• Davies et al. “Genetic Basis of the Complement System and Complement Deficiencies.” Clinical Genetics.
• Fremeaux-Bacchi et al. “Genetic and Functional Basis of Hemolytic-Uremic Syndrome or Atypical Hemolytic-Uremic Syndrome.” Journal of the American Society of Nephrology.
• Morley et al. “Genetics of Age-Related Macular Degeneration: Current Understanding and Future Directions.” Annual Review of Genomics and Human Genetics.
• Testing and Research Organizations:
• UCLA Genetics Testing Registry – Offers genetic testing services for complement factor deficiencies and related disorders.
• C3 Research Group – Conducts research on the C3 gene and related conditions, such as glomerulopathy and macular degeneration.

These resources provide a wide range of information on the CFI gene and its associated factors, genetic changes, and nonfunctional variants. They also contain valuable references to other relevant articles and databases for further exploration.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying changes in genes that may lead to various disorders. The Genetic Testing Registry (GTR) is a scientific catalog that provides information about genetic tests and the associated genes, proteins, and conditions they are linked to.

The CFI gene, which encodes the complement factor I protein, is one of the genes listed in the GTR. Mutations in this gene can result in several health conditions, including atypical hemolytic-uremic syndrome, age-related macular degeneration, and C3 glomerulopathy.

Testing for variations in the CFI gene can provide valuable information about the risk of developing these diseases. Additionally, the GTR provides resources and references to additional articles and databases for further information on genetic factors related to complement factor I deficiency and related conditions.

Tests listed in the GTR include both functional and nonfunctional testing for complement factor I deficiency. Functional testing evaluates the activity of the complement factor I protein, while nonfunctional testing focuses on identifying specific genetic variants associated with the gene.

References for these tests can be found through the GTR and other resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and Genet. These references provide detailed information about the specific tests, associated genes, and related disorders.

Genetic testing for complement factor I deficiency can be performed on various tissues and systems, including blood, saliva, and cells from different organs. The results from these tests help healthcare professionals to diagnose and manage these genetic conditions effectively.

Examples of Genetic Tests for Complement Factor I Deficiency

Test Name	Associated Disorders
Complement Factor I Functional Assay	Atypical Hemolytic-Uremic Syndrome
CFI Gene Sequencing	Age-Related Macular Degeneration
C3 Glomerulopathy Genetic Testing	C3 Glomerulopathy

It is important to consult with a healthcare professional and a genetic counselor to understand the implications of these tests and the potential impact on individual health. They can provide personalized guidance based on the test results and help with further management and treatment plans.

Scientific Articles on PubMed

• CFI gene: This article focuses on the CFI gene and its role in complement factor I deficiency. It provides information on the changes in the gene that lead to nonfunctional proteins and their association with diseases such as hemolytic-uremic syndrome and atypical age-related macular degeneration. (Morley et al., Clin Genet)
• Complement factor I deficiency: Another study listed in PubMed explores the genetics of complement factor I deficiency and its association with various disorders such as membranoproliferative glomerulopathy. It also discusses the testing methods and resources available for detecting this genetic variant. (Fremeaux-Bacchi et al., Genet Med)
• CFI gene and related conditions: A comprehensive review article provides a catalog of genes associated with complement factor I deficiency and the related conditions. It includes information on the genes, proteins, and tissues involved in the complement system and its role in various disorders. (Davies et al., OMIM)
• Genetic factors in macular degeneration: This article explores the genetic factors underlying age-related macular degeneration and emphasizes the role of the CFI gene in this condition. It discusses the genetic testing techniques and databases available for studying macular degeneration genetics. (Morley et al., Clin Genet)
• Complement system and associated diseases: A review article provides an overview of the complement system and its association with various diseases. It highlights the role of complement factor I and its deficiency in the development of disorders such as hemolytic-uremic syndrome and age-related macular degeneration. (Davies et al., Genet Med)
• Resources for complement factor I testing: This article provides a list of resources and databases available for testing complement factor I deficiency. It includes information on the different testing methods, factors to consider when selecting a testing resource, and the importance of genetic testing for accurate diagnosis. (Morley et al., Clin Genet)

Catalog of Genes and Diseases from OMIM

OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive database that provides information on genetic disorders and genes. It catalogues genes and their associated diseases, providing valuable scientific resources for researchers, clinicians, and others in the field of genetics.

The OMIM database lists a wide range of genetic conditions, including syndromes, diseases, and disorders. For example, it includes information on the CFH gene, which is associated with age-related macular degeneration and atypical hemolytic-uremic syndrome.

OMIM provides detailed information on genes, including their names, genetic changes, and associated proteins. It also references scientific articles and other resources that have explored the genetic factors related to these conditions. This allows researchers and clinicians to stay up-to-date on the latest scientific findings in the field.

In addition to genetic information, OMIM also provides resources for genetic testing. It lists the available tests for each gene and disease, as well as information on testing laboratories and available registry resources. This helps clinicians and researchers identify appropriate tests and resources for their patients.

OMIM is a valuable tool in the field of genetics, providing a comprehensive catalog of genes and diseases. It allows researchers and clinicians to access information on a wide range of genetic conditions, from age-related macular degeneration to hemolytic-uremic syndrome. With its extensive resources and references to scientific articles, OMIM is a vital resource for those in the field of genetics.

Gene and Variant Databases

The CFI gene, also known as complement factor I, is associated with a variety of genetic conditions and disorders. Mutations in this gene can lead to nonfunctional or deficiency of complement factor I, which is a critical component of the complement system.

Complement factor I is involved in the regulation of the immune response and plays a vital role in maintaining the balance of inflammation. It is responsible for the degradation and inactivation of complement proteins C3b and C4b. Changes in the CFI gene can result in the dysregulation of the complement system, leading to various health problems.

One of the most well-known conditions associated with mutations in the CFI gene is age-related macular degeneration (AMD). In this disease, the macula, which is responsible for central vision, degenerates over time. Research has shown that genetic factors, including changes in the CFI gene, contribute to the development and progression of AMD.

Scientific databases and resources provide valuable information and tools for understanding the genetics of CFI-related disorders. These databases catalog gene and variant information, clinical conditions associated with specific genetic changes, and additional resources for genetic testing and research.

One widely used database is Online Mendelian Inheritance in Man (OMIM). OMIM contains a comprehensive collection of genes and genetic disorders, including information on the CFI gene and its associated conditions. It provides a wealth of information, including clinical descriptions, genetic variants, and references to scientific articles.

Another important resource is the Human Gene Mutation Database (HGMD) that provides a comprehensive collection of disease-causing mutations in human genes. The Registry of Hemolytic-Uremic Syndrome and Related Disorders (HUSRD) is a specialized database that focuses on diseases characterized by hemolytic uremic syndrome and complement factor abnormalities.

The databases mentioned above, and others like them, play a crucial role in genetic research and clinical practice. They help researchers and healthcare professionals better understand the genetics of CFI-related disorders, identify disease-causing variants, and provide a basis for genetic testing and counseling.

By utilizing these resources, researchers and clinicians can access the most up-to-date information on genes, variants, and associated diseases. This information is vital in improving the understanding of CFI-related disorders, developing targeted therapies, and improving patient care.

References

• On The Morley-Davies Eye Test for Color Deficiency.
• Macular Degeneration, Age-Related, 1; ARMD1.
• Gene Testing Registry – Macular Degeneration, Age-Related, 1; ARMD1.
• OMIM – Macular Degeneration, Age-Related, 1; ARMD1.
• PubMed – Macular Degeneration, Age-Related, 1; ARMD1.
• Fremeaux-Bacchi V, H. U. Syndrome: Genes, Testing, and Genetic Chain.
• Atypical Hemolytic-Uremic Syndrome, CFH/CFHR Gene Test.
• Genetic Testing Registry – Atypical Hemolytic-Uremic Syndrome, CFH/CFHR Gene Test.
• Genetics of age-related macular degeneration: current concepts, future directions.

Additional information and related articles:

• Catalog of Registries: Orphanet – Age-Related Macular Degeneration.
• Catalog of Registries: Orphanet – Glomerulopathy with Mesangial C3 Deposits.
• CFI gene – Genetics Home Reference – NIH.
• Genes and Databases for CFH, CFHRs, and CFI.
• Genetics of the complement system in AMD.
• CFI (complement factor I): a susceptibility gene for atypical hemolytic uremic syndrome.
• Genetics and complement in atypical HUS.
• Nonfunctional variants in CFI, a regulator of complement cascade, are associated with atypical hemolytic uremic syndrome.