The DVL3 gene is a genetic effect related gene that has been extensively studied. According to PubMed, this variant has been linked to several dominant diseases and syndromes including Robinow syndrome—disorders characterized by skeletal changes. The DVL3 gene is part of the dishevelled family of genes, which play a crucial role in the Wnt signaling pathway.
Currently, there is a growing body of scientific literature on the DVL3 gene, with numerous articles and references available in various databases like Genet and OMIM. These resources provide important information regarding the function, mutations, and implications of this gene in certain conditions.
For those interested in testing their DVL3 gene variant, there are several tests that can be conducted through reliable laboratories and registries specializing in genetic health. These tests can provide valuable insights into an individual’s genetic predisposition to certain diseases and help in early detection and management.
In conclusion, the DVL3 gene is a significant player in the Wnt signaling pathway, with its mutations being associated with several dominant diseases and syndromes such as Robinow syndrome. The availability of comprehensive information and resources about this gene allows scientists, healthcare professionals, and the general public to delve deeper into the study of genetics and its impact on human health.
Health Conditions Related to Genetic Changes
Genetic changes in the DVL3 gene have been associated with several health conditions. These changes are inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Testing for genetic changes in the DVL3 gene can be done through various genetic tests. These tests analyze the DNA sequence of the gene to identify any changes or variants that may be present.
The DVL3 gene provides instructions for making proteins involved in a signaling pathway called the Wnt signaling pathway. This pathway plays a critical role in the development and maintenance of the skeleton, among other processes.
Changes in the DVL3 gene have been found to be associated with Robinow syndrome, a rare genetic disorder characterized by skeletal abnormalities and distinctive facial features. Robinow syndrome can vary widely in its signs and symptoms, even among affected individuals in the same family.
For more information on specific health conditions related to genetic changes in the DVL3 gene, additional resources can be found in databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry (GTR). These resources provide scientific references, testing information, and other related genes and conditions.
| Condition | Gene | Effect |
|---|---|---|
| Robinow syndrome | DVL3 | Genetic changes in the DVL3 gene have been shown to cause Robinow syndrome. The exact mechanism by which these changes affect the development of the skeletal system and other features of the syndrome is still being studied. |
Robinow syndrome
Robinow syndrome, also known as fetal face syndrome or Robinow-Francois syndrome, is a rare genetic disorder that affects the development of the skeleton and other parts of the body. It is named after Maurice Robinow, who first described the syndrome in 1969.
Robinow syndrome is caused by changes (variants) in the DVL3 gene. This gene provides instructions for making a protein called Dishevelled-3, which is involved in a signaling pathway called the Wnt signaling pathway. This pathway plays a role in the development and maintenance of tissues and organs throughout the body.
There are two types of Robinow syndrome: autosomal dominant and autosomal recessive. In the autosomal dominant form, a single variant in one copy of the DVL3 gene is enough to cause the condition. In the autosomal recessive form, variants in both copies of the DVL3 gene are needed.
Robinow syndrome is characterized by distinctive facial features, such as a broad forehead, wide-set eyes, a short nose, and a downturned mouth. People with the condition also have short stature, short limbs, and abnormalities of the skeletal system, such as fused or missing ribs and abnormal curvature of the spine. They may also have additional features, such as heart defects, genital abnormalities, and kidney abnormalities.
Diagnosis of Robinow syndrome is based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis by identifying variants in the DVL3 gene.
There are several resources available for additional information on Robinow syndrome, including scientific articles, gene databases, and patient registries. Some of the resources listed below may require a subscription or fee to access:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on genes and genetic conditions, including Robinow syndrome. The entry for Robinow syndrome can be found under OMIM ID 268310.
- PubMed: PubMed is a database of scientific articles. Searching for “Robinow syndrome” will yield a list of relevant articles on the topic.
- GeneTests: GeneTests is a comprehensive resource for genetic testing information, including laboratories that offer testing for Robinow syndrome.
These resources can provide valuable information for individuals and families affected by Robinow syndrome, as well as healthcare professionals and researchers studying the condition.
Other Names for This Gene
The DVL3 gene is also known by other names in various databases and related health resources. Some of the alternate names for this gene include:
- Dishevelled 3
- Dishevelled Segment Polarity Protein 3
- DVL-3
- RP11-301C24.1
- Segment Polarity Protein Dishevelled Homolog DVL3
These names may be used interchangeably to refer to the same gene, but they provide additional information about the various functions and effects of the gene in different scientific contexts.
Further information about the DVL3 gene, its variants, and associated health conditions can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. These resources provide comprehensive information about the gene, its effects, and the various diseases and conditions associated with changes or variants of this gene.
Scientific articles and references listed in PubMed and other scientific databases also provide valuable information about the DVL3 gene and its role in signaling pathways, skeletal development, and other genetic diseases. These articles can be used as additional resources to gain a deeper understanding of the gene and its functions.
Genetic tests and screenings may be performed to identify changes or mutations in the DVL3 gene, which can aid in the diagnosis and management of certain conditions such as Robinow syndrome, a rare genetic disorder characterized by skeletal abnormalities and other distinctive features.
In summary, the DVL3 gene, also known by other names, plays a crucial role in signaling pathways and skeletal development. Information about this gene can be found in various databases, scientific articles, and genetic testing resources, providing valuable insights into its functions and its association with different genetic diseases and conditions.
Additional Information Resources
- Scientific Articles:
- Proteins and signaling related to the DVL3 gene can be found in scientific articles on PubMed. These articles provide detailed information on the genetic variant and its effect on various conditions. You can search for articles using keywords like “DVL3 gene” or “Ro
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) catalogs genetic tests for a variety of health conditions and diseases. This registry provides a comprehensive list of tests for genes, proteins, and other genetic changes related to DVL3 gene and its associated disorders.
Genetic testing plays a crucial role in understanding the effect of the DVL3 gene on various health conditions. The GTR includes tests for both dominant and recessive variants of the DVL3 gene, allowing scientists and healthcare professionals to better understand the genetic basis of these conditions.
The GTR also includes tests related to other genes and proteins involved in the Wnt signaling pathway, which is where the DVL3 gene plays a significant role. These tests can help identify changes in genes and proteins that may contribute to diseases such as Robinow syndrome and other skeletal and developmental disorders.
Information about these tests in the GTR includes the scientific names and aliases of the genes, proteins, and tests themselves. Additionally, the GTR provides references to articles and databases that contain further information and resources related to genetic testing for DVL3 and related conditions.
Further information on specific tests and their clinical implications can be found in the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on the genetic basis, clinical manifestations, and inheritance patterns of various genetic conditions.
Overall, the Genetic Testing Registry is a valuable resource for researchers, healthcare professionals, and individuals seeking information about genetic testing for DVL3 and its related disorders. The comprehensive catalog of tests and the wealth of information provided can aid in the diagnosis, treatment, and understanding of these conditions.
Scientific Articles on PubMed
PubMed is a comprehensive catalog of scientific articles related to the DVL3 gene and its role in various conditions and diseases. Here, researchers and healthcare professionals can find valuable information on genetic changes, testing methods, and the impact of this gene on different disorders.
When searching on PubMed, you can find articles listed under different names, including “Dishevelled, Dsh homolog 3 (Drosophila)”, “Segment polarity gene dishevelled homolog DVL3”, and “Disheveled-3”. These names all refer to the same gene.
Studies have shown that mutations in the DVL3 gene can have a dominant effect and are associated with Robinow syndrome, a rare genetic disorder that affects the development of the skeleton and other body systems. Researchers have identified specific variants of the DVL3 gene that are related to this syndrome.
PubMed provides access to articles that explore the signaling pathways and mechanisms involving the DVL3 gene and related proteins. These articles delve into the role of the gene in embryonic development, cell growth, and other biological processes. They also discuss the potential therapeutic targets and interventions for conditions associated with DVL3 gene mutations.
Researchers and healthcare professionals can also find references to external resources, such as the Online Mendelian Inheritance in Man (OMIM) database and the Robinow Syndrome Genetic Registry, which provide additional information on the gene and related conditions.
In addition, PubMed serves as a valuable platform for researchers to publish their scientific articles on the DVL3 gene. The articles cover a wide range of topics, including clinical case studies, molecular genetics, functional analysis, and diagnostic testing methods. These articles contribute to the growing body of knowledge on the DVL3 gene and its implications for human health.
Overall, PubMed is a comprehensive source of scientific articles that provide valuable insights into the DVL3 gene, its variants, and the associated conditions and diseases. Researchers and healthcare professionals can use this resource to stay updated on the latest advancements in the field and access relevant information for their studies and clinical practice.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases with a focus on genetic research. It provides information on various conditions, syndromes, and diseases listed based on their genetic changes. OMIM serves as a valuable resource for scientists, healthcare professionals, and individuals interested in genetic health.
The catalog includes genes and proteins associated with different diseases and conditions. It offers a range of resources and databases that provide detailed information about genetic testing, variant changes, and their effects on health. The DVL3 gene, also known as the dishevelled segment polarity protein 3, is one of the genes listed in the catalog.
OMIM provides scientific articles, PubMed references, and registry information related to genetic changes and their impact on health. This information helps researchers and healthcare professionals understand the genetics behind various diseases and potentially develop new diagnostic tests or treatments. The catalog also includes additional tests and resources for testing specific genes or genetic variants.
One of the conditions listed in OMIM is Robinow syndrome, which is a rare genetic disorder characterized by skeletal changes and other physical abnormalities. The catalog provides detailed information about the genetic changes associated with Robinow syndrome, as well as resources for genetic testing and related research articles.
In summary, the catalog of genes and diseases from OMIM is a valuable resource for understanding the genetic basis of various conditions. It provides information on genes, genetic changes, and their effects on health. Researchers, healthcare professionals, and individuals can access this catalog to explore scientific articles, databases, and resources related to genetics and diseases.
Gene and Variant Databases
Gene and variant databases are essential resources for researchers and healthcare professionals working in the field of genetics and genomics. These databases provide valuable information about genes and specific variants, helping to understand their role in health, syndrome, and disease.
Some commonly used gene and variant databases include:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information on the phenotypic effects, molecular basis, and inheritance patterns of various diseases and disorders. OMIM is a valuable resource for researchers and clinicians seeking information on the DVL3 gene and related conditions.
- PubMed: PubMed is a widely used database of scientific articles and publications. Researchers can search for articles related to the DVL3 gene, its effects, and associated conditions using relevant keywords.
- Genetic Testing Registry (GTR): GTR is a centralized database of genetic tests and their providers. It provides information on the availability, purpose, and clinical validity of different genetic tests, including those for DVL3 gene mutations and related conditions.
- Genetics Home Reference: Genetics Home Reference provides consumer-friendly information about the effects of genetic variations on human health. It offers summaries of various genes, including DVL3, and their associated diseases and conditions.
In addition to these databases, there are other resources available for researchers and healthcare professionals working with the DVL3 gene and related genes. These resources can aid in understanding the molecular mechanisms, signaling pathways, and biological processes associated with the DVL3 gene and its variants.
By utilizing these databases and resources, researchers and clinicians can access valuable information to further their understanding of the DVL3 gene, its impact on health, and its association with various syndromes and conditions. This information can support the development of effective diagnostic tests, targeted therapies, and personalized treatment approaches.
References
- Databases:
- Online Mendelian Inheritance in Man (OMIM)
- Tests:
- Genetic testing
- Sequencing tests
- Other diagnostic tests
- Resources:
- Registry for Genes and Genetic Conditions
- Scientific articles
- PubMed
- Genes and the DVL3 gene:
- Dishevelled genes
- Signaling genes
- Robinow syndrome:
- Robinow syndrome variant
- Robinow syndrome-related genes
- Additional information and changes:
- OMIM entry for DVL3 gene
- Catalog of genetic diseases and conditions
- Updates in the field of genetic testing
- Related articles:
- Scientific publications on Robinow syndrome
- Articles on DVL3 gene and its effects
- Health-related information on Robinow syndrome