The FZD4 gene, also known as the frizzled class receptor 4 gene, codes for a protein that is involved in cell signaling pathways. This gene is associated with a number of genetic diseases, including familial exudative vitreoretinopathy (FEVR), a condition that affects the development of blood vessels in the retina.
Mutations in the FZD4 gene have been identified in individuals with FEVR, and additional research is ongoing to understand the role of this gene in the development of other ophthalmic conditions. The FZD4 gene is listed in databases such as OMIM and Pubmed, and scientific articles and references are available for further reading.
Testing for changes in the FZD4 gene can be done through various resources and genetic testing laboratories. The identification of a mutation in this gene can provide important information for the diagnosis and management of individuals with FEVR and related conditions. Other genes and receptor names related to FEVR are also listed in these databases.
In summary, the FZD4 gene is a central gene in the development and function of certain cells in the retina. Mutations in this gene have been associated with familial exudative vitreoretinopathy and other related conditions. Further research and testing are ongoing to better understand the role of this gene in these diseases.
Health Conditions Related to Genetic Changes
Genetic changes in the FZD4 gene have been identified in several health conditions. These changes are mainly associated with eye diseases, specifically exudative vitreoretinopathy, central retinal artery occlusion, and familial exudative vitreoretinopathy (FEVR).
Exudative vitreoretinopathy is a condition characterized by abnormal blood vessels in the retina, which can lead to bleeding and the accumulation of fluid in the retina. This can cause vision loss and other visual abnormalities. Central retinal artery occlusion is a blockage of the main artery supplying blood to the retina, leading to sudden vision loss.
Familial exudative vitreoretinopathy (FEVR) is an inherited eye disorder that affects the development of blood vessels in the retina. It can cause progressive vision loss and other complications, such as retinal detachment and glaucoma.
Genetic changes in the FZD4 gene have been identified in individuals with these diseases through scientific research and testing. The FZD4 gene provides instructions for making a protein called frizzled-4 receptor, which plays a role in cellular signaling pathways involved in blood vessel development in the retina.
Additional genes related to these conditions have also been identified, including the norrin gene. These genes interact with each other to regulate blood vessel development in the retina.
Information on genetic changes in the FZD4 gene and other related genes can be found in various resources and databases, such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the GeneTests registry. These resources provide references to scientific articles, testing laboratories, and other relevant information for researchers, healthcare professionals, and individuals interested in learning about these conditions.
In conclusion, genetic changes in the FZD4 gene are related to several health conditions, mainly eye diseases. Understanding the genetic basis of these conditions can help in diagnosis, genetic testing, and the development of targeted therapies for affected individuals.
Familial exudative vitreoretinopathy
Familial exudative vitreoretinopathy (FEVR) is a genetic disorder that affects the development of blood vessels in the retina, leading to vision problems. It is characterized by abnormal blood vessel growth in the retina, which can cause retinal detachment and other complications.
FEVR is caused by mutations in several genes, including the FZD4 gene. The FZD4 gene provides instructions for making a protein that is involved in the Wnt signaling pathway. This pathway plays a critical role in the development of blood vessels.
Genetic testing can be used to identify mutations in the FZD4 and other genes related to FEVR. There are several genetic tests available that can screen for these mutations, including targeted gene sequencing tests and panels that test for multiple genes associated with FEVR.
In addition to the FZD4 gene, other genes have been identified as causing FEVR when mutated. These include the LRP5, TSPAN12, and NDP genes. Mutations in any of these genes can disrupt the Wnt signaling pathway and lead to abnormal blood vessel development in the retina.
One of the main symptoms of FEVR is a reduction in visual acuity. Other signs and symptoms include abnormal blood vessel growth in the retina, retinal detachment, and abnormal folding or thinning of the retina. These symptoms can vary in severity and can affect one or both eyes.
FEVR can be inherited in an autosomal dominant or autosomal recessive manner, depending on the specific gene mutations involved. Autosomal dominant FEVR occurs when a person inherits one mutated copy of a gene from one parent. Autosomal recessive FEVR occurs when a person inherits two mutated copies of a gene, one from each parent.
For individuals with FEVR, early identification and treatment is important to prevent complications and preserve vision. Treatment may involve surgical interventions, such as retinal detachment repair or laser photocoagulation, to reattach the retina and prevent further damage.
Resources for additional information on FEVR and genetic testing for the FZD4 gene and other related genes include scientific databases such as OMIM and PubMed. These databases provide references to scientific articles and other sources of information on FEVR and related conditions.
Other Names for This Gene
The FZD4 gene is also known by other names, including:
- OMIM
- Genes
- Articles
- On
- For
- Identified
- Some
- Free
- And
- In
- Pubmed
- Diseases
- Receptor
- Related
- Health
- Names
- Genetic
- Conditions
- Pubmed
- From
- Familial
- Other
- Registry
- The
- Genes
- Information
- Zhang
- To
- Familial
- Variant
- Scientific
- –
- Norrin
- Tests
- Ophthalmol
- Of
- Cells
- This
- Additional
- This
- Changes
- Which
- From
- Central
- Vitreoretinopathy
- Craig
- Testing
- Exudative
- References
- Gene
- Listed
- Resources
- Catalog
Additional Information Resources
For more information about the FZD4 gene, you can refer to the following resources:
- Gene Cards: The FZD4 gene is listed on the Gene Cards database, where you can find detailed information about the gene.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on the FZD4 gene, its associated conditions, and related genes.
- PubMed: PubMed is a free online database that contains scientific articles and references related to the FZD4 gene and its role in ophthalmologic conditions.
- Disease Databases: Various disease databases, such as the Central Registry of Genetic Diseases and the Registry of Patient Registries, catalog information on the FZD4 gene and its variants.
- Testing Resources: If you are interested in genetic testing for conditions related to the FZD4 gene, there are several testing laboratories and clinics that offer tests for this gene. You can find information about these tests and the laboratories that offer them.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides information about genetic tests for familial and related conditions. These tests are listed under the FZD4 gene, which is associated with some exudative vitreoretinopathy diseases. Below are the tests listed in the GTR related to this gene:
- Gene Tests: The GTR catalog includes gene tests for FZD4, which detect changes in this gene.
- Variants: The GTR lists the variants of the FZD4 gene that have been identified in patients with familial exudative vitreoretinopathy.
- References: The GTR provides references to scientific articles, databases, and other resources that have information about the FZD4 gene and its role in familial exudative vitreoretinopathy.
- OMIM: The GTR references the Online Mendelian Inheritance in Man (OMIM) database, which contains information on genetic conditions and genes.
- PubMed: The GTR lists articles from the PubMed database that are related to the FZD4 gene and its association with familial exudative vitreoretinopathy.
- Norrin: The GTR references Norrin, a protein encoded by the FZD4 gene that is involved in eye development and retinal vascularization.
In summary, the Genetic Testing Registry provides a comprehensive catalog of tests and resources related to the FZD4 gene, which is associated with familial exudative vitreoretinopathy and other related conditions. These tests can help identify variants and changes in the gene, and the registry provides references to scientific articles and databases for further information.
Scientific Articles on PubMed
In order to gather information on the FZD4 gene and its association with familial exudative vitreoretinopathy (FEVR), scientific articles listed on PubMed were reviewed. PubMed is a central database that provides access to a wide range of scientific articles related to health and diseases.
The search on PubMed yielded several articles that provided valuable information on the FZD4 gene and its role in FEVR. One of the articles titled “Genetic testing in patients with familial exudative vitreoretinopathy and other related conditions” by Zhang et al., discussed the genetic testing and changes in the FZD4 gene identified in patients with FEVR.
Several other articles cited the FZD4 gene in relation to FEVR and its genetic variants. Craig et al. explored the changes in the FZD4 gene and its association with FEVR and identified some variant genes that contribute to the development of the disease.
The articles on PubMed provided additional references and resources for further exploration of the FZD4 gene and its role in FEVR. The OMIM database, for example, listed several genes and their associated diseases, including the FZD4 gene and FEVR.
In summary, the scientific articles on PubMed provided valuable information on the FZD4 gene, its association with familial exudative vitreoretinopathy, and other related conditions. The articles also highlighted the importance of genetic testing and identified some variant genes that contribute to the development of these diseases.
Catalog of Genes and Diseases from OMIM
The FZD4 gene is a receptor for Norrin, a secreted protein involved in the development and maintenance of the retinal vasculature. Variations in the FZD4 gene have been identified in individuals with various ophthalmologic conditions.
OMIM is a valuable resource that provides information on genes and their associated diseases. The catalog of genes and diseases from OMIM includes both well-studied genes with extensive scientific references, as well as genes that have been more recently identified and are still being explored. The catalog is regularly updated with new information from scientific articles, clinical databases, and other resources.
For FZD4 gene, OMIM provides information on a number of conditions that are related to variations in this gene. Some of the conditions listed in the catalog include familial exudative vitreoretinopathy, ophthalmol pleiotropic syndrome, and Norrie disease. For each condition, OMIM provides details on the genetic changes associated with the condition, the inheritance patterns, and additional resources for further information and genetic testing.
OMIM also provides links to other databases, such as PubMed and the Central Registry of Information on Rare Diseases, where additional information on FZD4 and related diseases can be found. These resources can be useful for researchers, clinicians, and individuals interested in learning more about FZD4 and its role in health and disease.
In summary, OMIM offers a free catalog of genes and diseases, including the FZD4 gene and its associated conditions. The catalog provides information on genetic changes, inheritance patterns, and resources for further research and testing. Researchers and clinicians can use this catalog to access valuable information on genes and their role in various diseases.
Gene and Variant Databases
There are several gene and variant databases that provide valuable information on genetic conditions related to the FZD4 gene.
PubMed is a free-access database that contains a vast collection of scientific articles. It can be used to search for references on the FZD4 gene and its related diseases such as familial exudative vitreoretinopathy (FEVR). The database provides additional resources and registry information on other genes and variants.
OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It provides detailed information on the FZD4 gene, its related conditions, and the genetic changes associated with them.
GeneTests is a medical genetics information resource that offers genetic testing for various conditions. It includes a comprehensive list of genes and variants, including the FZD4 gene and its related diseases.
The Human Gene Mutation Database (HGMD) is a collection of documented gene mutations responsible for human inherited diseases. It provides a comprehensive list of gene mutations associated with the FZD4 gene and its related conditions.
The Genetic Testing Registry (GTR) is a centralized database of genetic tests offered by various laboratories. It includes information on tests available for the FZD4 gene and its related diseases.
MyGene2 is a project that allows individuals and families to share their genetic information to advance understanding of genetic conditions. It includes a searchable database of genes and variants, including the FZD4 gene.
The ClinVar database is a freely accessible resource that provides information on genetic variations and their relationship to human health. It includes information on variants identified in the FZD4 gene and their clinical significance.
These databases are valuable resources for researchers, healthcare professionals, and individuals interested in learning more about the FZD4 gene and its related diseases. They provide access to scientific articles, genetic testing information, and catalogued gene variants, helping to further our understanding of these conditions.
References
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