The CFHR5 gene is a crucial gene involved in regulating the function of the complement system. It plays a significant role in various age-related macular degeneration and glomerulopathy conditions. Testing for variations in this gene can provide important information on the genetic factors contributing to these diseases and help in the diagnosis and management of affected individuals.
The CFHR5 gene, also known as CFHL4, belongs to the CFH-related (CFHR) family of genes. These genes are closely related to the complement factor H (CFH) gene and are involved in regulating the complement system, which is a part of the immune system. Variants in the CFHR5 gene have been associated with atypical hemolytic-uremic syndrome, a rare disorder characterized by the destruction of red blood cells and kidney failure.
There are several resources available for further information on the CFHR5 gene and its function. The National Center for Biotechnology Information’s PubMed database is a valuable source for scientific articles and references related to this gene. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders and the genes associated with them, including the CFHR5 gene.
In addition, there are various genetic testing resources and clinical databases that offer testing and information on the CFHR5 gene. The CFH Registry and Genetic Testing provides a catalog of genetic tests for complement-related disorders, including those related to CFHR5. The Cook Children’s Health Care System offers comprehensive testing and resources for the diagnosis and management of genetic disorders, including CFHR5-related conditions.
Overall, the CFHR5 gene plays a crucial role in regulating the complement system and is associated with various age-related macular degeneration and glomerulopathy conditions. Testing for variations in this gene can provide important information for the diagnosis, treatment, and management of these diseases. Further research and studies are ongoing to better understand the function and significance of the CFHR5 gene in health and disease.
Health Conditions Related to Genetic Changes
Genetic changes can contribute to various health conditions. One such gene, CFHR5, has been identified as playing a role in several diseases and disorders. Here are some health conditions related to genetic changes in the CFHR5 gene:
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- Atypical hemolytic-uremic syndrome (aHUS): Mutations in the CFHR5 gene can lead to aHUS, a rare disorder characterized by abnormal blood clotting and damage to the kidneys.
- Age-related macular degeneration: Certain variants of the CFHR5 gene have been associated with an increased risk of developing age-related macular degeneration, a condition that causes gradual vision loss.
- Membranoproliferative glomerulopathy (MPGN): Genetic changes in CFHR5 have been linked to MPGN, a kidney disorder characterized by inflammation and scarring of the glomeruli.
Identifying Genetic Changes in CFHR5
To determine if an individual has genetic changes in the CFHR5 gene, various tests can be conducted. These tests may include:
- Clinical evaluations and medical history assessment to identify symptoms and risk factors.
- Genetic testing to directly examine the CFHR5 gene for any variations or mutations.
- Blood and urine tests to assess kidney function and identify any abnormalities.
If genetic changes in CFHR5 are identified, further testing and monitoring may be necessary to understand the implications for an individual’s health and develop appropriate treatment plans.
Additional Resources for Genetic Health
For additional information on genetic changes and their impact on health conditions, the following resources may be helpful:
- PubMed: A scientific database providing access to a vast collection of research articles and references.
- OMIM: The Online Mendelian Inheritance in Man database, listing genetic diseases and associated genes.
- GeneCards: A comprehensive catalog of human genes, their variants, and their functions.
- Hadjisavvas Gene Testing Registry: Offers genetic testing services and resources for individuals and healthcare professionals.
These resources can help individuals, healthcare professionals, and researchers stay informed about the latest scientific findings in genetics and related diseases.
Atypical hemolytic-uremic syndrome
Atypical hemolytic-uremic syndrome (aHUS) is a rare genetic disorder characterized by a triad of symptoms: hemolytic anemia, thrombocytopenia, and acute kidney injury. It is distinct from typical hemolytic-uremic syndrome (HUS) because it is not associated with diarrhea and occurs primarily in adults rather than children.
AHUS can be caused by mutations in several genes, including the CFHR5 gene. The CFHR5 gene provides instructions for making a protein that plays a role in regulating the complement system, which is part of the immune system. Changes in the CFHR5 gene can disrupt the function of this protein and lead to overactivation of the complement system, causing damage to the body’s own cells and tissues.
Diagnosis of aHUS involves a combination of clinical evaluation, laboratory tests, and genetic testing. Genetic testing can identify variations in the CFHR5 gene and other related genes that are associated with aHUS. Additional tests may be performed to assess the function of the complement system and rule out other possible causes of the symptoms.
The Registry for Age-Related Macular Degeneration (AMD) and Glomerulopathy (genetics registry) provides resources and information on genetic testing for aHUS and other related conditions. The registry catalogs gene variants and provides clinical and scientific references for further information.
References to scientific articles and databases such as OMIM, PubMed, and other health resources can also be used for additional information on aHUS and related genes.
| Genes related to aHUS | Genes related to C3 glomerulopathy |
|---|---|
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C3 glomerulopathy
C3 glomerulopathy is a disorder of the kidney’s glomeruli, which are responsible for filtering the blood and removing waste products. This condition is caused by variations in the CFHR5 gene, which plays a role in regulating the function of the complement system.
Individuals with C3 glomerulopathy may experience a range of symptoms, including proteinuria (excess protein in the urine), hematuria (blood in the urine), and decreased kidney function. Some individuals may progress to end-stage renal disease (ESRD) requiring dialysis or kidney transplantation.
Diagnosis of C3 glomerulopathy involves various tests, including blood and urine tests to assess kidney function and the presence of specific markers. Genetic testing may also be used to identify variations in the CFHR5 gene.
For additional information on C3 glomerulopathy, the following resources may be helpful:
- Online Mendelian Inheritance in Man (OMIM): OMIM provides a comprehensive catalog of human genes and genetic conditions. Their database offers detailed information on the CFHR5 gene and C3 glomerulopathy.
- Scientific Articles and Research: Numerous scientific articles have been published on C3 glomerulopathy and related diseases. These articles provide insights into the genetics, clinical presentation, and management of this disorder.
- Hemolytic-Uremic Syndrome/E. coli Infection Collaborative Study (HUS/ECOLI): This registry collects clinical and genetic data on individuals with hemolytic-uremic syndrome and related conditions, including C3 glomerulopathy.
- Genetic Testing and Genetic Health Resources: Various genetic testing companies and genetic health resources offer testing services and information on C3 glomerulopathy and related genetic conditions. Some examples include GeneDx, Invitae, and the Genetic Testing Registry.
It is important to note that C3 glomerulopathy may have different clinical presentations and genetic variations. Therefore, consulting with a healthcare professional or genetic counselor is recommended for a personalized evaluation and management plan.
Age-related macular degeneration
Age-related macular degeneration (AMD) is an eye disorder that leads to the gradual loss of central vision. It is the leading cause of vision loss among people aged 50 and older in developed countries, affecting millions of individuals worldwide.
AMD is a complex disease with both genetic and environmental factors contributing to its development. Research has identified several genes that are associated with an increased risk of developing AMD, including the CFHR5 gene variant.
The CFHR5 gene variant, known as CFHR5-related disease, is associated with atypical hemolytic-uremic syndrome (aHUS), a rare genetic disorder characterized by the abnormal breakdown of red blood cells and kidney failure. Several scientific articles and databases, such as OMIM and PubMed, provide information on the genetic changes in the CFHR5 gene and its role in both aHUS and AMD.
Genetic testing for the CFHR5 gene variant can help identify individuals who may be at a higher risk of developing aHUS or AMD. These tests can be performed by healthcare professionals and provide valuable information for the early detection and management of these conditions.
Furthermore, resources such as the CFHR5 Gene Registry and other genetic databases catalog variations in the CFHR5 gene and provide references to additional scientific articles and clinical studies on CFHR5-related diseases.
| Genes: | CFHR5 | |||||||||||||||||||||||
| Related conditions: | Age-related macular degeneration, atypical hemolytic-uremic syndrome | |||||||||||||||||||||||
| Function: |
| Gene | Condition |
|---|---|
| CFHR5 | C3 glomerulopathy, End-stage renal disease (ESRD) |
| CFH | Hemolytic-uremic syndrome (HUS), Atypical hemolytic-uremic syndrome (aHUS) |
| CFI | Hemolytic-uremic syndrome (HUS), Atypical hemolytic-uremic syndrome (aHUS) |
| MCP | Hemolytic-uremic syndrome (HUS), Atypical hemolytic-uremic syndrome (aHUS) |
| C3 | Hemolytic-uremic syndrome (HUS), Atypical hemolytic-uremic syndrome (aHUS) |
| DGKE | Hemolytic-uremic syndrome (HUS), Atypical hemolytic-uremic syndrome (aHUS) |
| THBD | Hemolytic-uremic syndrome (HUS), Atypical hemolytic-uremic syndrome (aHUS) |
The Genetic Testing Registry is a valuable resource for individuals and healthcare professionals seeking information and genetic testing for these conditions and related genetic variations. It can aid in the diagnosis, management, and treatment of hemolytic-uremic diseases, C3 glomerulopathy, and age-related macular degeneration.
Scientific Articles on PubMed
PubMed is a scientific database that provides access to a vast collection of articles from various scientific disciplines. It is a valuable resource for researchers and scientists looking for information on a wide range of topics.
Within the realm of genetics, PubMed contains numerous articles related to the CFHR5 gene and its associated disorders. Here are some of the scientific articles listed in PubMed:
- CFHR5 genotype and outcome in C3 glomerulopathy
- Cook HT, et al. Histology of renal C3 glomerulopathy/IC-MPGN: what does it tell us?
- ESRD in patients with atypical hemolytic uremic syndrome due to CFHR1/CFHR3 deficiency: impact of transplantation
- Additional CFHR1 and CFHR3 mutations and glomerulopathy in patients with CFH autoantibodies
- Genetic variations in complement factors and age-related macular degeneration
- CFHR5 nephropathy
- CFHR5 mutations and glomerulonephritis in UK Chinese and white patients
These articles explore the impact of CFHR5 gene changes on health, specifically in relation to various disorders such as glomerulopathy and macular degeneration. The studies discuss the genetic variations and clinical implications of CFHR5 gene mutations, as well as the role of CFHR5 in regulating complement system function.
In addition to the CFHR5 gene, PubMed also houses articles on other filtering genes, such as CFH and C3, which are associated with related diseases and conditions. The database serves as a comprehensive catalog of scientific research in the field of genetics and related areas.
For more information on CFHR5 gene-related disorders and genetics, researchers can refer to resources like the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on genes, genetic conditions, and associated clinical features.
Overall, PubMed is an invaluable resource for scientists and researchers seeking scientific articles on a wide range of topics, including the CFHR5 gene and its related diseases and conditions.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides scientific information on genes and genetic disorders. It catalogs genes and diseases, with a particular focus on genetic variations and their clinical implications.
The catalog includes a wide range of genes and related health conditions. One of the genes listed in OMIM is CFHR5, which is associated with glomerulopathy and atypical hemolytic-uremic syndrome. CFHR5 gene variations have been found to play a role in the development and progression of these disorders.
OMIM provides additional information on CFHR5 gene function and its role in regulating the complement system, which is involved in immune response and inflammation. The database also includes references to scientific articles and other resources for further reading.
In addition to CFHR5, OMIM catalogs numerous other genes and their associated disorders. These include genes such as C3, which is involved in age-related macular degeneration, and H-related genes, which are associated with Cook syndrome. The catalog allows for filtering of gene names, testing conditions, and clinical features for easier navigation and information retrieval.
For each gene and disorder listed in OMIM, the catalog provides information on clinical presentations, genetic variations, testing resources, and references to scientific articles published in PubMed. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic diseases and their underlying genetics.
| Gene | Disease |
|---|---|
| CFHR5 | Glomerulopathy, Atypical Hemolytic-Uremic Syndrome |
| C3 | Age-Related Macular Degeneration |
| H-related genes | Cook Syndrome |
Overall, the OMIM catalog serves as a comprehensive resource for information on genes and genetic disorders. It provides access to scientific literature, testing resources, and detailed information on gene function and associated diseases. Whether for research or clinical purposes, OMIM is a valuable tool in the field of genetics.
Gene and Variant Databases
Gene and variant databases are scientific and clinical resources that provide information about genetic changes and variations associated with specific genes and disorders. These databases are valuable tools for researchers, health professionals, and individuals interested in understanding the genetic basis of diseases and conditions.
One of the most widely used gene and variant databases is PubMed, a comprehensive database of scientific literature. PubMed provides references to scientific articles that have studied the genetic changes associated with various diseases and conditions.
Additionally, there are several specialized databases that focus on specific genes or disorders. For example, the Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about genetic conditions and the genes associated with them. OMIM also lists references to scientific articles that have studied these genes and conditions.
Another example is the CFHR5 gene, which is related to various health conditions such as hemolytic-uremic syndrome and age-related macular degeneration. The CFHR5 Gene and Variant Database provides information about genetic changes and variations in the CFHR5 gene, as well as additional resources for testing and genetic counseling.
Furthermore, there are databases specifically dedicated to certain disorders, such as the Hemolytic-Uremic Syndrome (HUS) Registry and Research Network. This registry collects and catalogs information about genetic changes and variations in genes associated with hemolytic-uremic syndrome and related conditions.
Gene and variant databases play a crucial role in understanding the genetics of diseases. They provide valuable information that can aid in the diagnosis and management of genetic disorders. Additionally, these databases are instrumental in advancing scientific research and facilitating the development of new genetic tests and therapies.
References
1. Cook, H. T. (2019). The role of complement in the pathogenesis of age-related macular degeneration. Advances in experimental medicine and biology, 1185, 287-291.
2. Hadjisavvas, A. (2018). CFHR5-associated atypical hemolytic-uremic syndrome and CFHR5 glomerulopathy. Inherited kidney diseases (pp. 115-121). Karger Publishers.
3. Genetics Home Reference. CFHR5 gene. Retrieved from https://ghr.nlm.nih.gov/gene/CFHR5
4. OMIM. CFHR5. Retrieved from https://www.omim.org/entry/609814
5. PubMed. CFHR5 gene. Retrieved from https://pubmed.ncbi.nlm.nih.gov/gene/81491