FZD2 gene – Austra Health

The FZD2 gene, also known as Frizzled-2, is a scientific gene that is associated with various skeletal disorders. It is a dominant gene, meaning that a mutation in this gene can cause the syndrome to be inherited in an autosomal dominant manner.

Frizzled-2 plays a crucial role in the development and maintenance of the skeleton. Mutations in the FZD2 gene can lead to abnormal skeletal growth, resulting in conditions such as Robinow syndrome and other related disorders.

In addition to its involvement in skeletal disorders, the FZD2 gene has been linked to various other diseases and conditions. It has been extensively studied and its functions and interactions with other genes are well-documented in scientific databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

There are currently seven articles listed under the FZD2 gene in the OMIM database, providing further information on the various diseases and conditions associated with this gene. These articles include references to relevant scientific studies and provide useful resources for further research and testing.

Health Conditions Related to Genetic Changes

Multiple health conditions can be related to genetic changes in the FZD2 gene. The FZD2 gene provides instructions for producing a protein that plays a role in the Wnt signaling pathway. This pathway is essential for normal development and the maintenance of various tissues and organs in the body.

Changes in the FZD2 gene can lead to different health conditions. Some of these conditions are listed below:

Robinow syndrome – a rare genetic disorder characterized by distinctive facial features, skeletal abnormalities, and other physical and developmental abnormalities. It has been associated with variants in FZD2 and other genes.
-7 syndrome – a condition caused by deletions or other genetic changes in the chromosome 7. It is characterized by developmental delay, intellectual disability, distinctive facial features, and other health problems.
Other genetic diseases and syndromes – changes in FZD2 gene may be related to other rare genetic diseases and syndromes that affect different systems in the body.

To diagnose these health conditions, genetic testing is usually recommended. Different types of genetic tests can be performed to analyze the FZD2 gene and other related genes. These tests can help identify genetic changes and variants that may contribute to the development of certain health conditions.

Additional resources and information on FZD2 gene and related health conditions can be found in scientific databases such as OMIM (Online Mendelian Inheritance in Man). OMIM provides detailed information on genes, genetic variants, and associated diseases. Other resources include research articles indexed on PubMed, genetic testing catalogs, and disease registries for specific syndromes.

Robinow syndrome

Robinow syndrome is a rare genetic syndrome caused by mutations in the FZD2 gene. It is characterized by skeletal abnormalities and distinct facial features. There are two forms of Robinow syndrome: autosomal recessive Robinow syndrome (RRS) and autosomal dominant Robinow syndrome (DRS).

Robinow syndrome is caused by mutations in the FZD2 gene, which encodes a protein involved in the Wnt signaling pathway. This pathway plays a crucial role in the development and maintenance of various tissues and organs in the body. Mutations in the FZD2 gene disrupt the normal functioning of this pathway, leading to the characteristic features of Robinow syndrome.

Robinow syndrome is characterized by short stature, shortening of the long bones in the arms and legs, and distinctive facial features including a broad forehead, prominent eyes, a flat nasal bridge, and a small mouth. Other skeletal abnormalities such as rib anomalies, scoliosis, and joint deformities may also be present.

To diagnose Robinow syndrome, genetic tests can be conducted to identify mutations in the FZD2 gene. These tests can be ordered from various genetic testing companies or diagnostic laboratories. The Genetic Testing Registry and Online Mendelian Inheritance in Man (OMIM) provide information on available tests and labs.

In addition to the FZD2 gene, mutations in other genes such as WNT5A, DVL1, and DVL3 have also been associated with Robinow syndrome. Genetic testing may include analysis of these genes as well.

Scientific articles and case reports on Robinow syndrome can be found in PubMed, a database of biomedical literature. The Robinow Syndrome Foundation and the International Skeletal Dysplasia Registry also provide resources and information on this syndrome.

Further research and understanding of the genetic basis of Robinow syndrome can help provide more accurate diagnoses and develop targeted therapies for individuals with this condition.

Other Names for This Gene

Robinow syndrome, autosomal dominant 1 (DRS1)
Robinow-like syndrome, autosomal dominant
Warsaw breakage syndrome
WABS
Dominant Robinow syndrome
DRS1
TTBKS

Additional Information Resources

For additional information on the FZD2 gene, the following resources can be useful:

PubMed: A scientific database with references to articles related to FZD2 gene and related conditions.
OMIM: A catalog of human genes and genetic conditions, including FZD2. It provides information on gene changes and associated syndromes.
GeneTests: A registry of genetic testing laboratories that offer testing for FZD2 gene variants and related syndromes.
Protein Databases: These databases provide information on the proteins produced by the FZD2 gene, their functions, and related pathways.
Other Genes: For information on other genes related to FZD2 and their role in health and diseases.

These resources can provide additional tests available for FZD2 gene testing, scientific articles, and information on related genes and conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated information. It provides information about the availability and purpose of genetic tests, as well as details on the genes and conditions they are associated with. The GTR is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic testing.

GTR includes information on various genetic tests related to the FZD2 gene, which is associated with Robinow syndrome, a rare genetic disorder affecting the skeletal system and overall health. The following tests related to the FZD2 gene are listed in the GTR:

Variant test for FZD2 gene
Genetic testing for Robinow syndrome
Additional tests for genes associated with Robinow syndrome

These tests provide valuable information about the FZD2 gene and its role in Robinow syndrome. They can help identify any changes or variants in the gene that may be associated with the development of this syndrome. The GTR lists the scientific names of these tests, as well as references to related articles and databases for further information.

For individuals interested in genetic testing for Robinow syndrome or other related conditions, the GTR serves as a comprehensive resource. It provides information on the availability and purpose of these tests, as well as references to scientific articles and databases that offer additional information on these conditions.

Overall, the Genetic Testing Registry offers a valuable platform for accessing information about genetic tests, genes, and associated conditions. It serves as a centralized catalog of resources that can aid in the understanding and diagnosis of various genetic disorders.

Scientific Articles on PubMed

The FZD2 gene, also known as the Frizzled-2 gene, is associated with a variety of tests, diseases, and conditions. The FZD2 gene codes for a protein that is involved in multiple cellular processes and signaling pathways. Understanding the role of this gene and the associated proteins is critical for genetic testing and understanding various health conditions.

Testing for FZD2 gene changes can be done through various tests listed in scientific articles published on PubMed. These tests can help diagnose and identify specific gene variants associated with diseases and conditions. One such condition associated with FZD2 gene changes is Robinow syndrome, which is a rare genetic disorder affecting skeletal development.

PubMed is a catalog of scientific articles and references related to health and genetics. It serves as a valuable resource for researchers, doctors, and individuals seeking information on genetic testing and related genes. In addition to PubMed, there are other databases and resources available for further exploration of the FZD2 gene and its role in various health conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases that provides valuable information on the health and conditions associated with specific genes. It serves as a valuable resource for scientific research, testing, and genetic counseling.

OMIM lists over 7,000 genes and their associated variants, along with detailed information on the diseases caused by these genes. The catalog covers a wide range of conditions, including both rare and common diseases.

For each gene listed in OMIM, there are detailed descriptions of its function, the proteins it produces, and the changes or mutations in the gene that contribute to disease development. The catalog also includes information on the mode of inheritance of each gene, such as autosomal dominant or recessive.

OMIM compiles information from various resources, including scientific articles, PubMed, and other databases. It provides references to these resources, enabling researchers to delve deeper into the related literature.

In addition to the gene information, OMIM also provides a registry of genetic tests available for different diseases. This registry includes the names of the tests, the laboratories offering them, and the information required for testing.

To facilitate easy access to the catalog, OMIM organizes the genes and diseases into tables. These tables are categorized based on different criteria, such as gene function, disease type, or mode of inheritance.

One example of a disease listed in OMIM is the Robinow syndrome, a rare skeletal disorder. The catalog provides detailed information on the gene responsible for this syndrome, along with the associated symptoms and inheritance pattern.

The OMIM catalog is an invaluable resource for researchers, clinicians, and individuals seeking information on genetic diseases. Its comprehensive coverage and extensive references make it a vital tool in the field of genetics.

Gene and Variant Databases

Gene and variant databases provide valuable information about genes and genetic changes associated with various diseases and conditions. These databases are essential resources for researchers, clinicians, and individuals interested in understanding the role of specific genes in human health.

One widely used gene database is the Online Mendelian Inheritance in Man (OMIM) database, which catalogues information related to genetic conditions and the genes associated with them. It provides comprehensive information about genes, including their functions, related diseases, genetic changes, and references to scientific articles.

Another important resource is the GeneTests database, which focuses on genetic testing for various conditions. It provides a comprehensive list of genetic tests available for different diseases and disorders. The database includes information about the genes involved, the type of testing method used, and additional information about each test.

For specific genes, there are also specialized databases available, such as the FZD2 gene. These gene-specific databases provide detailed information about the gene, its function, related diseases, and genetic changes associated with the gene. They also include references to scientific articles and other resources for further exploration.

In addition to gene databases, there are variant databases that specifically focus on genetic changes or variants associated with diseases. These databases catalog and store information about different genetic variants and their associations with specific diseases or conditions. They provide information about the frequency of the variant in populations, its impact on protein function, and any known disease associations.

Overall, gene and variant databases play a crucial role in advancing our understanding of the genetic basis of diseases and conditions. They provide a wealth of information that can aid in research, diagnosis, and treatment of genetic disorders.

References

FZD2 gene resources:
- Information on FZD2 gene and related diseases: Robinow syndrome, skeleton diseases, and other genetic conditions can be found in the OMIM database.
- For additional information on FZD2 gene and related tests, health conditions, and variant testing, refer to the GeneTests registry.
Scientific articles:
- These databases PubMed and OMIM provide a wealth of scientific articles related to FZD2 gene and its associated genes and proteins.
- Changes and variants in the FZD2 gene are discussed in seven articles listed in PubMed.

Health Conditions Related to Genetic Changes

Robinow syndrome

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

RECOMMENDED

Liebenberg syndrome

ATP8B1 gene

Hereditary antithrombin deficiency