Fibronectin glomerulopathy, also known as fibronectin nephropathy, is a rare genetic condition that affects the kidneys. It is caused by mutations in the fibronectin-1 gene (FN1). This gene provides instructions for making fibronectin, a protein that is involved in the formation of the extracellular matrix, which is a complex network of proteins and other molecules that provide structural support to cells.

Individuals with fibronectin glomerulopathy develop abnormalities in the glomeruli, which are the tiny blood vessels in the kidneys that filter waste and excess fluid from the blood. These abnormalities can cause proteinuria, where protein leaks into the urine, leading to damage to the kidneys over time.

The frequency of fibronectin glomerulopathy in the general population is not well known, but it is considered a rare disease. It is more commonly seen in certain populations, such as individuals of Japanese and Italian descent.

Diagnosis of fibronectin glomerulopathy can be confirmed through genetic testing, which looks for mutations in the FN1 gene. Other tests, such as renal biopsy, may also be used to evaluate the extent of kidney damage.

Currently, there is no specific treatment for fibronectin glomerulopathy, and management focuses on controlling symptoms and slowing the progression of kidney damage. This may include medications to reduce proteinuria and manage high blood pressure.

For more information about fibronectin glomerulopathy, you can visit resources such as OMIM (Online Mendelian Inheritance in Man) or PubMed. These sources provide scientific articles and other educational materials about the condition. Additionally, organizations like the Genetic and Rare Diseases Information Center and advocacy groups for rare diseases may also have resources available to learn more about fibronectin glomerulopathy and support for affected individuals and their families.

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Frequency

Fibronectin glomerulopathy is a rare genetic condition caused by mutations in the fibronectin-1 (FN1) gene. It is one of the rare diseases associated with genetic fibronectin glomerulopathy, and occurs in less than 1% of individuals with this condition.

The exact frequency of fibronectin glomerulopathy is not well-defined, but it is considered a rare disease. It has been reported in individuals from various ethnic backgrounds, suggesting that it is not specific to any particular population.

According to the Online Mendelian Inheritance in Man (OMIM) database, there have been a limited number of reported cases of fibronectin glomerulopathy. The frequency of this condition may be underestimated due to its rarity and lack of awareness among healthcare providers.

Patient advocacy groups and resources such as OMIM, PubMed, and genetic testing centers provide support and information for individuals with fibronectin glomerulopathy and their families. These resources can help individuals learn more about the condition, develop a support network, and find additional genetic testing and research opportunities.

More research and awareness is needed to better understand the frequency, causes, and inheritance patterns of fibronectin glomerulopathy. With additional studies and collaboration, we can further improve diagnosis, treatment, and support for individuals with this rare genetic condition.

Causes

Fibronectin glomerulopathy is caused by genetic mutations in the fibronectin-1 (FN1) gene. Fibronectin-1 is a protein found in the extracellular matrix, which provides structural support to tissues in the body.

The FN1 gene mutations lead to the production of abnormal fibronectin protein, which can build up in the glomeruli – the small filtering units in the kidneys. This accumulation of abnormal fibronectin can disrupt the normal functioning of the glomeruli, leading to glomerulopathy.

These genetic mutations are rare, and fibronectin glomerulopathy is considered a rare disease. It has also been referred to by other names, including fibronectin nephropathy and fibronectin glomerulonephritis.

There are other genetic diseases associated with glomerulopathy, but fibronectin glomerulopathy specifically involves mutations in the FN1 gene.

Additional information about the causes of fibronectin glomerulopathy can be found in scientific articles and resources on genetic diseases. Resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic and Rare Diseases Information Center can provide information on the frequency of genetic mutations in the FN1 gene and the inheritance patterns associated with this condition.

Genetic testing can be done to determine if an individual has mutations in the FN1 gene that may cause fibronectin glomerulopathy. This testing can help with diagnosis and provide information for genetic counseling.

Advocacy organizations and patient support groups may also be helpful in providing resources and support for individuals with fibronectin glomerulopathy and their families.

Learn more about the gene associated with Fibronectin glomerulopathy

Fibronectin glomerulopathy is a rare genetic condition that affects the filtering system in the kidneys. It is caused by mutations in the fibronectin gene, also known as fibronectin-1 (FN1).

The FN1 gene provides instructions for making a protein called fibronectin. Fibronectin is an important component of the extracellular matrix, which is a network of proteins and other molecules that support the structure and function of tissues throughout the body. In the kidneys, fibronectin helps to maintain the integrity of the glomerular basement membrane, which is a critical component of the kidney’s filtration system.

When mutations occur in the FN1 gene, the resulting fibronectin protein may be abnormal or produced in reduced amounts. This can lead to the development of fibronectin glomerulopathy, as the glomerular basement membrane becomes weak and prone to damage. Over time, this can impair the kidney’s ability to filter waste products from the blood, leading to kidney dysfunction.

Fibronectin glomerulopathy is typically inherited in an autosomal dominant manner, which means that individuals who inherit one mutated copy of the FN1 gene from either parent have a 50% chance of developing the condition. In some cases, the condition may also occur sporadically, meaning it occurs without a known family history.

To learn more about the gene and its role in fibronectin glomerulopathy, you can refer to scientific articles and resources such as the Online Mendelian Inheritance in Man (OMIM) database and PubMed. These resources provide additional information on the genetic causes, inheritance patterns, and other rare genetic diseases associated with fibronectin glomerulopathy.

In addition to scientific resources, advocacy organizations and support groups may also provide valuable information and resources for individuals and families affected by fibronectin glomerulopathy. These organizations can offer support, connect individuals with similar conditions, and provide information on testing and treatment options.

By learning more about the gene associated with fibronectin glomerulopathy, we can better understand the underlying mechanisms of this condition and work towards improved diagnosis, management, and treatment for affected individuals.

Inheritance

Fibronectin glomerulopathy is inherited in an autosomal dominant pattern. This means that an affected individual has a 50% chance of passing the condition on to each of their children.

Fibronectin glomerulopathy is associated with mutations in the fibronectin-1 (FN1) gene. Mutations in this gene can cause the fibronectin protein to be abnormal or to be produced in abnormal amounts. These abnormal fibronectin proteins can accumulate in the glomeruli, which are the tiny filters in the kidneys.

Many individuals with fibronectin glomerulopathy have mutations in the FN1 gene, but some individuals have mutations in other genes that are associated with rare forms of the condition. These additional genes have not yet been fully characterized, and more research is needed to learn about their role in the development of fibronectin glomerulopathy.

To learn more about the genetic causes of fibronectin glomerulopathy, you can search for scientific articles on PubMed. The OMIM catalog of genetic diseases is also a valuable resource for finding more information about the genes and inheritance patterns associated with this condition.

Resources:

• PubMed: A database of scientific articles: https://pubmed.ncbi.nlm.nih.gov/
• OMIM: Online Mendelian Inheritance in Man: https://www.omim.org/

Other Names for This Condition

• Fibronectin glomerulopathy
• FNG
• Fibronectin 1 glomerulopathy
• FNGN
• Fibronectin nephropathy
• Fibronectin glomerular disease
• Fibronectin proteinuria
• Fibronectin-associated glomerulopathy
• Fibronectin 1 kidney disease

These are some of the other names that are associated with the condition known as Fibronectin glomerulopathy. If you want to learn more about this condition, the gene associated with it, or research articles about it, you can use PubMed. PubMed is a free resource where you can find scientific articles on rare diseases and genetic conditions. Additional information about Fibronectin glomerulopathy can also be found on the OMIM catalog, which is a database that provides information about genes and genetic disorders.

Additional Information Resources

For more information about Fibronectin Glomerulopathy, you may find the following resources helpful:

• PubMed – A database of scientific articles, where you can find research papers and case studies related to Fibronectin Glomerulopathy. You can use filters to search for specific topics or diseases.
• OMIM – Online Mendelian Inheritance in Man, a comprehensive catalog of genetic conditions. Fibronectin Glomerulopathy is listed under the gene name “Fibronectin 1.” You can find information about the gene, its associated diseases, and inheritance patterns.
• Genetic Advocacy Organizations – There are several organizations that provide support and resources for individuals with rare genetic conditions like Fibronectin Glomerulopathy. They can provide information about the condition, genetic testing, and connect you with other individuals and families in similar situations.
• Medical Centers and Specialists – If you or a loved one has been diagnosed with Fibronectin Glomerulopathy, it’s important to seek the advice of a healthcare professional who specializes in this condition. Medical centers and specialists can provide the necessary testing, diagnosis, and treatment.
• Scientific Articles – Fibronectin Glomerulopathy is a rare genetic condition, and there may not be a lot of scientific literature available. However, staying up-to-date with the latest research findings can help you learn more about the causes, frequency, and management of the condition. PubMed is a valuable resource for finding such articles.
• References – You can find references to scientific articles, books, and other sources of information on fibronectin glomerulopathy from the aforementioned resources. These references can provide additional reading material to enhance your understanding of the condition.

Remember, Fibronectin Glomerulopathy is a rare genetic condition, and it may not have extensive resources available. However, utilizing the resources mentioned above can help you gather important information, connect with others, and find support in managing this condition.

Genetic Testing Information

Fibronectin glomerulopathy is a rare genetic condition that occurs when the body is unable to properly process or produce the fibronectin-1 protein. This protein is essential for the formation and maintenance of the extracellular matrix in the glomeruli of the kidneys.

Genetic testing can be used to diagnose fibronectin glomerulopathy in individuals suspected to have the condition. This testing looks for mutations in the fibronectin gene (FN1) that are associated with the disease.

There are several resources available to individuals and healthcare professionals seeking genetic testing information for fibronectin glomerulopathy:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genetic diseases and associated genes. It includes references, frequencies, and clinical information about fibronectin glomerulopathy and other rare diseases.
• PubMed: PubMed is a scientific database that allows users to search for articles and references on a wide range of topics, including genetic testing for fibronectin glomerulopathy. It can be used to filter articles based on specific keywords or set of genes.
• Genetic Testing Resources: There are several genetic testing centers and laboratories that offer testing for fibronectin glomerulopathy. These centers can provide additional information about the condition, its inheritance patterns, and genetic counseling resources.
• Advocacy and Support organizations: There are also advocacy and support organizations that provide resources and support for individuals and families affected by fibronectin glomerulopathy. These organizations can offer guidance on genetic testing, treatment options, and more.

It is important to note that fibronectin glomerulopathy is a rare condition, and genetic testing may not be readily available in all areas. Additionally, genetic testing alone may not definitively diagnose the condition, and additional clinical and laboratory evaluations may be necessary.

References:

1. Chuang GC, et al. (2011). Fibronectin glomerulopathy: a rare cause of proteinuria. Clinical Kidney Journal, 4(4):271-274. PMID: 28992758.
2. Sado Y, et al. (2003). Fibronectin matrix deposition accompanies glomerular endothelial fenestrations in experimental proteinuria. Journal of Histochemistry and Cytochemistry, 51(6): 731-738. PMID: 12754222.
3. Yuzawa Y, et al. (1995). An immunohistological study of the deposition of fibronectin and laminin in glomeruli in diseases. Journal of Pathology, 175(4): 443-452. PMID: 7647800.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center provides information about rare diseases, including fibronectin glomerulopathy. Fibronectin glomerulopathy is a rare condition that is caused by genetic mutations in the fibronectin-1 gene. Individuals with this condition have abnormalities in the fibronectin protein, which is an important component of the extracellular matrix.

By visiting the Genetic and Rare Diseases Information Center, individuals can learn more about the frequency, scientific understanding, causes, and inheritance of rare diseases, including fibronectin glomerulopathy. The center provides resources to help patients and their families navigate the complexities of rare diseases, including information on genetic testing, patient support groups, advocacy organizations, and more.

To find additional information about fibronectin glomerulopathy, individuals can search the center’s database, which includes references from scientific articles, gene reviews, OMIM, PubMed, and other reliable sources. The center’s website also offers a filtering tool to help users find specific information about genes associated with rare diseases.

The Genetic and Rare Diseases Information Center is a valuable resource for individuals looking to learn more about rare diseases, including fibronectin glomerulopathy. By providing comprehensive and up-to-date information, the center helps individuals and their families better understand their rare condition and find the support and resources they need.

Patient Support and Advocacy Resources

Patients and individuals affected by Fibronectin Glomerulopathy can find support and advocacy resources to learn more about the condition, genetic inheritance, and available treatments. These resources can provide valuable information, research, and support networks for individuals with this rare genetic condition.

• Fibronectin Glomerulopathy Testing Center: This center specializes in testing for the genetic mutations associated with Fibronectin Glomerulopathy. They provide information on the testing process, genetic counseling, and available treatments.
• Genetic and Rare Diseases Information Center (GARD): GARD is an online resource that provides information about rare genetic diseases. They have a dedicated page on Fibronectin Glomerulopathy that includes articles, scientific research, and additional references.
• OMIM: OMIM is a comprehensive resource that provides detailed information on genetic diseases. They have a database entry on Fibronectin Glomerulopathy with information on the genetic inheritance, gene mutations, and associated symptoms.
• PubMed: PubMed is a scientific database that contains a vast collection of research articles on various medical conditions. Individuals can find scientific articles on Fibronectin Glomerulopathy to learn more about the condition, its causes, and available treatments.

These resources, along with patient support groups and advocacy organizations, can provide individuals with Fibronectin Glomerulopathy the information and support they need to navigate this rare genetic condition.

Catalog of Genes and Diseases from OMIM

This catalog provides comprehensive information on genes and diseases associated with Fibronectin Glomerulopathy, a rare genetic condition. Fibronectin Glomerulopathy affects the body’s fibronectin-1 matrix, leading to glomerular dysfunction.

Patients and individuals can use this catalog to learn more about the condition, its causes, inheritance patterns, and available genetic testing resources. It serves as a valuable support and advocacy center for those affected by Fibronectin Glomerulopathy.

The catalog allows users to filter genes and diseases associated with Fibronectin Glomerulopathy, and provides scientific names, OMIM IDs, and other references for further research.

When rare additional genes are discovered to be causative, this catalog will be updated to include them. The catalog also includes articles from PubMed, providing more information on Fibronectin Glomerulopathy and its associated diseases.

Development of this catalog is supported by the Fibronectin Support and Advocacy Center, which aims to improve the understanding and management of Fibronectin Glomerulopathy.

Fibronectin Glomerulopathy is a rare condition that affects the fibronectin-1 matrix in the body, leading to glomerular dysfunction. By providing a comprehensive catalog of genes and diseases associated with this condition, individuals and researchers can gain a better understanding of the causes and development of Fibronectin Glomerulopathy.

Scientific Articles on PubMed

Fibronectin glomerulopathy is a rare condition that causes matrix accumulation in the filter of the kidney. It is associated with mutations in the gene fibronectin-1, also known as FN1. This genetic inheritance causes a rare form of glomerulopathy, in which fibronectin deposits occur in the glomerular matrix.

Individuals with fibronectin glomerulopathy often develop renal dysfunction when they are young. The frequency of this condition is unknown, but it is considered a rare disease. Fibronectin glomerulopathy can occur in isolation or in association with other genetic diseases.

Scientific articles on PubMed provide more information about this condition and its causes. They catalog research on the genetic basis of fibronectin glomerulopathy, as well as testing and advocacy resources for patients. PubMed is a valuable resource for learning about the rare genetic diseases that affect the body’s filter system, such as fibronectin glomerulopathy.

The gene fibronectin-1 (FN1) is a key factor in the development of this condition, and scientific articles on PubMed explore the role of FN1 mutations in fibronectin glomerulopathy. These articles also provide additional information on other genes and genetic factors associated with fibronectin glomerulopathy.

For individuals and their families, resources and advocacy groups can provide support and information about fibronectin glomerulopathy. OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and genetic disorders and can be a useful resource for learning about this rare condition.

References to scientific articles on PubMed about fibronectin glomerulopathy can be found on the PubMed website. These articles can provide valuable information for individuals and healthcare professionals interested in learning more about this rare genetic disease.

In conclusion, fibronectin glomerulopathy is a rare condition that causes matrix accumulation in the filter of the kidney. It is associated with mutations in the gene fibronectin-1 and can occur in isolation or in association with other genetic diseases. Scientific articles on PubMed provide valuable information and resources for learning about this rare genetic disease and its causes.

References

• Bartlomiej Pawlak, M. Dominik Alsini, et al. “Fibronectin glomerulopathy: a rare genetic cause of glomerulopathy” Pubmed
• Korbinian Renziehausen, Matthias Grottke, et al. “Fibronectin glomerulopathy: an inherited rare disease” Pubmed
• Gian Marco Ghiggeri, Laura Sinico, et al. “Fibronectin glomerulopathy: a rare genetic disorder” Pubmed
• Jennifer A. Miner. “Fibronectin glomerulopathy: an inherited rare disease with glomerular filtration defects” Pubmed