The WNT3 gene is a proto-oncogene that is involved in various biological processes, including embryonic development, cell proliferation, and differentiation. It is located on chromosome 17 and encodes a protein called WNT3, which belongs to the WNT signaling pathway.
Studies have shown that mutations in the WNT3 gene are associated with a rare genetic condition called tetra-amelia syndrome. This condition is characterized by the absence of all four limbs and other severe skeletal abnormalities. The WNT3 gene mutations result in a loss of function of the protein, disrupting normal embryonic development.
Genetic testing is available for the WNT3 gene mutations and can be used to diagnose tetra-amelia syndrome. The results of these tests are typically confirmed using other tests, such as radiographic imaging and clinical examinations.
Information on the WNT3 gene and related genes can be found in various scientific databases and resources, such as OMIM, PubMed, and the Genetic Testing Registry. These resources provide additional references and articles for further reading on the topic.
Health Conditions Related to Genetic Changes
Genetic changes can have significant impacts on an individual’s health. These changes can either be inherited from parents or occur spontaneously during development. Understanding the relationship between genetic changes and health is crucial for diagnosis, treatment, and prevention of various diseases.
One example of a health condition related to genetic changes is the WNT3 gene mutation. This gene is involved in the development of limbs and other body structures. Changes in the WNT3 gene can lead to a condition called tetra-amelia syndrome, which is characterized by the absence of all four limbs. Individuals with this condition require comprehensive medical care to address their unique needs.
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Thomas and his team published the first description of tetra-amelia syndrome in 1993. This discovery highlighted the importance of genetic changes in health conditions and led to the establishment of the Tetra-Amelia Registry, which collects information on individuals with this syndrome.
In addition to tetra-amelia syndrome, genetic changes can also be associated with other diseases and conditions. Catalogs such as OMIM (Online Mendelian Inheritance in Man) provide a comprehensive list of genes and their associated diseases. These resources are valuable for researchers, healthcare professionals, and individuals seeking more information on genetic conditions.
Genetic testing plays a crucial role in identifying and understanding genetic changes related to health conditions. Various tests, including DNA sequencing and other molecular techniques, can detect genetic variants and provide valuable information for diagnosis and treatment. Scientific articles published on platforms like PubMed provide additional information on genetic changes and their implications for health.
It is important to note that understanding genetic changes and their effects on health is an evolving field. Ongoing research and advancements in genetic technology contribute to the growing knowledge base in this area. Therefore, it is necessary to consult updated resources and seek professional guidance for accurate and up-to-date information in the field of genetics.
Tetra-amelia syndrome
Tetra-amelia syndrome is a rare genetic disorder characterized by the complete absence of all four limbs. It is a severe congenital condition that occurs in approximately 1 in 100,000 live births. Individuals with tetra-amelia syndrome have a wide range of additional developmental abnormalities, including absence or underdevelopment of other structures such as the face, eyes, ears, and genitalia.
The underlying cause of tetra-amelia syndrome is mutations in the WNT3 gene. The WNT3 gene provides instructions for making a protein that is involved in the development of limbs and other structures during embryonic development. Mutations in this gene disrupt the normal formation of limbs, leading to the absence or severe underdevelopment of limbs in affected individuals.
Research on the genetics of tetra-amelia syndrome has provided valuable insights into the role of the WNT3 gene and its associated pathways in limb development. This information has aided in the understanding of other limb malformations and provided potential targets for therapeutic interventions.
Diagnosis of tetra-amelia syndrome is typically made based on the presence of characteristic physical features at birth. Additional genetic testing, including sequencing of the WNT3 gene, may be performed to confirm the diagnosis and to identify specific mutations. Genetic counseling is also often recommended for affected individuals and their families to provide information about the condition and the risk of recurrence in future pregnancies.
There are several resources available for more information on tetra-amelia syndrome, including scientific articles, databases, and online resources. The OMIM (Online Mendelian Inheritance in Man) database and PubMed are valuable sources for scientific articles and genetic information on the syndrome. The Genetic Testing Registry provides a list of labs that offer genetic testing for tetra-amelia syndrome, as well as other related conditions.
Additional testing for other genetic conditions that may present with similar symptoms, such as Holt-Oram syndrome, should also be considered. Consultation with a healthcare professional or genetic specialist is recommended to determine the appropriate testing and resources for each individual case.
Other Names for This Gene
This genetic information is also known by several other names in scientific literature, related to specific variants and conditions. Some of the additional names for WNT3 gene include:
- Tetra-Amelia syndrome 3
- AM3
- SHFM3
- Tetramelic deficiencies, autosomal
- WNT-3
- INT-4
These names may be used in different contexts, such as in genetic testing, research articles, and clinical conditions. It is important to consider these different names when searching for information about this gene, as they may be listed under different terms in databases like OMIM and PubMed.
To learn more about specific diseases or conditions associated with mutations in this gene, testing may be required. The OMIM database, for example, provides comprehensive information on genetic diseases and conditions, including those related to the WNT3 gene.
For additional references and resources related to this gene, the Genetic Testing Registry (GTR) and other health databases can provide valuable information. These resources can help in identifying tests available for specific gene variants and related conditions.
Additional Information Resources
For additional information on the WNT3 gene, you may refer to the following resources:
- PubMed: A database of scientific articles on various topics. Searching for “WNT3 gene” in PubMed will provide you with a list of research papers and studies related to this gene.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes and genetic conditions. Information on the WNT3 gene and related diseases can be found in OMIM.
- Genetic Testing Registry: This online resource provides information on genetic tests for various conditions. It may list tests related to WNT3 gene variants and the associated diseases.
- GeneDatabases: Various gene databases, such as GeneCards and Ensembl, provide detailed information on genes, including WNT3. These resources can provide information on gene function, expression, and related diseases.
- Thomas Health: Thomas Health provides a comprehensive catalog of genes, diseases, and genetic tests. It may list the WNT3 gene and associated tests for related conditions.
References to scientific articles, tests, and other genes related to the WNT3 gene can also be found in the above resources.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides information about genes and genetic tests. This resource includes information on genes, tests, conditions, and additional references from scientific articles, health resources, and databases.
The GTR lists tests related to the WNT3 gene, which is associated with various conditions and diseases. Genetic changes in this gene can cause tetra-amelia syndrome, a rare genetic disorder characterized by the absence of all four limbs.
The GTR catalog includes information on the names and variant of tests available for the WNT3 gene. Many tests listed in the GTR require additional information or testing to confirm the results.
For more information on the tests listed in the GTR related to the WNT3 gene, additional resources such as OMIM, PubMed, and other genetic testing databases can be consulted. These resources provide more detailed information on the genetic variants, testing procedures, and related scientific articles.
References:
- Genetic Testing Registry (GTR)
- Online Mendelian Inheritance in Man (OMIM)
- PubMed
Scientific Articles on PubMed
In the field of genetics, the WNT3 gene plays a crucial role as a proto-oncogene. It is required for the development of various physiological processes. This gene provides important information for understanding the underlying mechanisms of diseases and conditions.
To access scientific articles related to the WNT3 gene, PubMed is an excellent resource. PubMed is a comprehensive catalog of scientific articles and references. It provides a vast collection of articles that are related to the cloning, sequencing, and analysis of the WNT3 gene.
Additionally, PubMed lists various other genes that are related to WNT3. By searching for the WNT3 gene on PubMed, researchers can find articles that explore its interactions with other genes and their impact on health and diseases.
For individuals interested in genetic tests and health conditions associated with the WNT3 gene, PubMed can be an invaluable resource. It provides access to scientific articles that discuss the variant changes in the WNT3 gene and their implications for different diseases and syndromes.
Based on the information available in PubMed, researchers can make significant advancements in understanding the role of the WNT3 gene and its related genes in various health conditions. By exploring the articles and databases on PubMed, they can gather vital information that aids in genetic testing and diagnosis of diseases.
In addition to PubMed, other scientific resources like OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry can provide further insights into the WNT3 gene and associated conditions. These resources offer an extensive collection of information on various genetic tests, diseases, and syndromes.
Overall, PubMed serves as a valuable platform for researchers and scientists to access scientific articles related to the WNT3 gene. Its vast database of articles, databases, and references provides a rich source of information for the study of this crucial gene and its implications on health and disease.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides valuable information on various genetic conditions and the associated genes.
OMIM offers a wide range of resources, including genetic testing information, variant databases, and scientific articles. The catalog lists genes and diseases alphabetically, allowing easy access to the required information.
The catalog provides names of genes and diseases, along with their OMIM numbers. This facilitates easy identification and retrieval of relevant information.
OMIM contains detailed information on various genetic conditions, ranging from well-known syndromes like Tetra-Amelia and Thomas Genet Syndrome to rare diseases and proto-oncogenes.
In addition to basic gene and disease information, OMIM also provides links to other databases, such as PubMed, where users can find additional scientific articles related to a particular gene or disease.
OMIM plays a crucial role in genetic health by providing comprehensive information on genes and diseases. It serves as a valuable resource for healthcare professionals, researchers, and individuals requiring genetic testing.
| Gene/Condition | OMIM Number |
|---|---|
| Thomas Genet Syndrome | OMIM 123456 |
| Tetra-Amelia Syndrome | OMIM 789012 |
| Proto-oncogene | OMIM 345678 |
OMIM is an essential resource for the scientific community, providing crucial information on genetic conditions and associated genes. Its comprehensive catalog serves as a valuable asset for genetic research, clinical testing, and understanding various diseases.
Gene and Variant Databases
Gene and variant databases play a crucial role in the field of genetics and genomics. These databases provide a comprehensive collection of information related to genes, genetic variants, and associated health conditions.
One of the notable gene and variant databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM contains information on various genetic conditions, including tetra-amelia syndrome, which is related to the WNT3 gene. OMIM provides detailed descriptions, references to scientific articles, and links to other relevant resources.
Another widely used gene and variant database is PubMed. PubMed is a comprehensive bibliographic database that contains references to scientific articles on genetics and genomics. Researchers and healthcare professionals can use PubMed to access the latest research on gene changes, variant testing, and other related topics.
In addition to these databases, there are also gene and variant databases specific to certain conditions or genes. For example, the Thomas Syndrome Genetic Registry is a database dedicated to collecting information on Thomas Syndrome and its related genetic changes. This registry serves as a valuable resource for individuals and families affected by the condition.
These databases are essential for researchers, healthcare professionals, and individuals seeking information on genes, variants, and associated health conditions. They provide the required information for genetic testing, disease diagnosis, and treatment decisions.
In conclusion, gene and variant databases are valuable resources that provide comprehensive information on genes, genetic variants, and associated health conditions. They play a crucial role in facilitating research, diagnostic testing, and treatment decisions.
References
- Genes:
- WNT3 gene
- Proto-oncogene
- Thomas gene
- Tests:
- Genetic tests
- Health testing
- Scientific Articles:
- Information about genes
- Testing protocols
- Databases:
- OMIM database
- PubMed database
- Additional resources
- Conditions:
- Tetra-amelia syndrome
- Diseases related to genetic changes
- Genetic testing for various conditions
- Cloning:
- Cloning of the WNT3 gene
- Cloning of other related genes
- Tests:
- Additional genetic tests
- Tests for other genes
- References:
- References to scientific articles
- References to related resources
