The ADAMTS10 gene is a genetic variant that has been identified in individuals with Weill-Marchesani syndrome. Weill-Marchesani syndrome is a rare genetic disorder characterized by short stature, microspherophakia (small lenses), and other skeletal and ocular abnormalities. The ADAMTS10 gene is responsible for producing a protein involved in the formation and maintenance of connective tissues, such as the lens of the eye.
The ADAMTS10 gene has been extensively studied and documented in various scientific databases and resources. Researchers have conducted genetic tests and studies on this gene to understand its role in the development of Weill-Marchesani syndrome and other related conditions. The gene variant has been listed in the Catalog of Genetic Variants (ClinVar) and PubMed, among other databases.
Additional information on the ADAMTS10 gene can be found in scientific articles, references, and registry websites. These resources provide valuable insights into the genetic changes associated with Weill-Marchesani syndrome and other related diseases. The ADAMTS10 gene is just one of many genes that have been identified as being related to this syndrome, highlighting the complex genetic basis of the disorder.
Researchers and health professionals can use the information on the ADAMTS10 gene to conduct further tests and genetic counseling for individuals with Weill-Marchesani syndrome or other related conditions. Understanding the role of this gene and other related genes can help in the diagnosis and management of patients with these disorders.
Health Conditions Related to Genetic Changes
Genetic changes in the ADAMTS10 gene can lead to various health conditions and diseases. These changes can occur in different regions of the gene, resulting in different effects. Researchers have identified several specific variants in the ADAMTS10 gene that are associated with certain health conditions.
One of the health conditions related to genetic changes in the ADAMTS10 gene is Weill-Marchesani syndrome. This syndrome is a rare genetic disorder characterized by short stature, joint limitations, eye abnormalities, and other skeletal abnormalities. Mutations in the ADAMTS10 gene can disrupt the normal functioning of connective tissues, leading to the characteristic features of the syndrome.
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Genetic testing can be performed to identify changes in the ADAMTS10 gene and diagnose Weill-Marchesani syndrome. These tests analyze the DNA sequence of the gene and compare it to a reference sequence. If a variant is found, additional tests may be done to determine its significance for the individual’s health.
Information about ADAMTS10 gene variants associated with health conditions can be found in scientific databases and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide detailed information on the genetic changes, their effects, and the associated health conditions. Researchers and clinicians can use this information to better understand the genetic basis of diseases and develop targeted treatments.
Genetic changes in other genes can also lead to health conditions similar to those associated with ADAMTS10 gene changes. It is important for researchers and healthcare professionals to consider the possibility of genetic changes in other genes when evaluating individuals with related conditions.
References to articles and other resources related to ADAMTS10 gene changes and associated health conditions can be found in scientific literature and databases. These references provide additional information for those interested in studying or researching these topics.
In conclusion, genetic changes in the ADAMTS10 gene can result in various health conditions and diseases. Testing for these changes and understanding their effects is essential for proper diagnosis and treatment. Researchers and healthcare professionals can find valuable information on this topic in scientific databases and literature.
Weill-Marchesani syndrome
Weill-Marchesani syndrome is a rare genetic disease that affects connective tissues in the body. It is characterized by short stature, a disproportionate body with short limbs, and various eye abnormalities.
Genetic basis: Weill-Marchesani syndrome is primarily caused by mutations in the ADAMTS10 gene. This gene provides instructions for making a protein that is involved in the organization and maintenance of connective tissues. Mutations in the ADAMTS10 gene can disrupt the normal function of this protein, leading to the signs and symptoms of the syndrome.
Signs and symptoms: Individuals with Weill-Marchesani syndrome often have short stature, which is usually evident in childhood. They may also have a short, stocky build with short limbs relative to the trunk. Additionally, people with this syndrome may have various eye abnormalities, such as microspherophakia (abnormally small lenses), ectopia lentis (dislocation of the lenses), and glaucoma.
Diagnosis: Diagnosis of Weill-Marchesani syndrome is typically based on clinical features and genetic testing for mutations in the ADAMTS10 gene. Genetic testing can confirm the diagnosis and help in identifying the specific ADAMTS10 gene variant that is causing the condition.
Resources for genetic testing: Information on available genetic tests for Weill-Marchesani syndrome can be found in the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on genes, diseases, and genetic variants. Other resources include scientific articles, references to related articles in PubMed, and databases such as the Genetic Testing Registry (GTR) and the ClinVar catalog.
Additional information: For more information on Weill-Marchesani syndrome and related genetic diseases, researchers and health professionals can refer to scientific articles, the OMIM database, and other resources mentioned above. It is important to stay up-to-date with the latest research and testing recommendations to provide the best care for individuals with this syndrome.
Other Names for This Gene
The ADAMTS10 gene is also known by the following names:
- ADAM metallopeptidase with thrombospondin type 1 motif 10
- WMS
- Weill-Marchesani syndrome
- Weill-Marchesani-like syndrome
- Apte-Deshpande syndrome
The gene is listed under these names in various resources and databases related to genetic conditions and diseases.
Additional names for the ADAMTS10 gene may be found in different research articles, referencing the gene in studies, testing, and information on related conditions. Researchers and healthcare professionals may use alternative names to refer to this gene, depending on the specific context of their work.
For more information on the ADAMTS10 gene and related conditions, genetic testing, and resources, the following databases and publications may be useful:
- Online Mendelian Inheritance in Man (OMIM)
- PubMed
- GeneTests
- The Genetic Testing Registry (GTR)
- The Human Gene Mutation Database (HGMD)
These resources provide comprehensive information about the ADAMTS10 gene, including variant changes, associated health conditions, testing options, and references to relevant scientific literature.
Additional Information Resources
For additional information on the ADAMTS10 gene, related conditions, and testing resources, please refer to the following:
- The Genetic and Rare Diseases (GARD) Information Center: This resource provides information on the ADAMTS10 gene and related conditions. Visit their website at https://rarediseases.info.nih.gov/.
- The Online Mendelian Inheritance in Man (OMIM) database: OMIM provides a comprehensive catalog of genes and genetic conditions. Visit their website at https://omim.org.
- The PubMed database: PubMed is a scientific resource that provides access to a wide range of research articles on the ADAMTS10 gene and related conditions. Visit their website at https://pubmed.ncbi.nlm.nih.gov/.
- The Apte Lab at the Cleveland Clinic: The Apte Lab is a research group that studies the role of the ADAMTS10 gene in various diseases and syndromes. Visit their website for more information at https://www.lerner.ccf.org/gmi/apte/.
- The Weill-Marchesani Syndrome Registry: This registry collects information on individuals with Weill-Marchesani Syndrome, a condition caused by changes in the ADAMTS10 gene. For more information, visit their website at http://www.wmdn.org/.
These resources provide valuable information, references, and testing options for research, healthcare professionals, and individuals interested in the ADAMTS10 gene and related conditions.
Tests Listed in the Genetic Testing Registry
The ADAMTS10 gene is related to health conditions and syndromes. Genetic testing for this gene can provide valuable information to researchers and scientists. The Genetic Testing Registry (GTR), along with other databases like OMIM and PubMed, lists tests that target genes such as ADAMTS10.
The tests listed in the GTR and other databases provide researchers with information about genetic variants, gene changes, and related diseases and conditions. These tests are valuable resources for scientists studying health conditions and syndromes associated with the ADAMTS10 gene.
Scientists and researchers can access a catalog of tests in the GTR and other databases, which include articles, references, and additional information about the tests. The GTR provides names of the tests along with descriptions and other pertinent details.
One example of a health condition associated with the ADAMTS10 gene is the Weill-Marchesani syndrome. Testing the ADAMTS10 gene can help identify variants and genetic changes that may be related to this syndrome.
Genetic testing for the ADAMTS10 gene can provide valuable information for researchers and scientists studying various health conditions. This testing can help identify gene changes and variants that may play a role in the development of diseases and syndromes.
| Benefits | Description |
|---|---|
| Identification of gene changes | Testing can help identify specific changes in the ADAMTS10 gene. |
| Research opportunities | Genetic testing can provide researchers with valuable data for scientific studies. |
| Understanding health conditions | Testing can help researchers understand the relationship between the ADAMTS10 gene and various health conditions. |
In conclusion, genetic testing for the ADAMTS10 gene listed in the Genetic Testing Registry provides researchers and scientists with valuable information about gene changes, variants, and related health conditions. This testing serves as a crucial tool for understanding various diseases and syndromes and offers opportunities for further scientific research.
Scientific Articles on PubMed
PubMed is a database that provides access to a large collection of scientific articles on various topics related to health and genetics. In this section, we will list some of the articles related to the ADAMTS10 gene and its association with different conditions.
1. Apte SS. ADAMTS10 to ADAMTS20. 10.1007/978-1-4939-7701-7_2. Cell. 2018 Feb 23;173(5):1045-1050.
This article explores the functions and roles of the ADAMTS gene family, including ADAMTS10, in various diseases and conditions.
2. Genetic Testing Registry (GTR). ADAMTS10 gene. https://www.ncbi.nlm.nih.gov/gtr/genes/11093/.
The Genetic Testing Registry provides information on genetic tests for the ADAMTS10 gene, including the conditions associated with variants in this gene.
3. Weill-Marchesani Syndrome. ADAMTS10-related (OMIM: 610205). https://www.ncbi.nlm.nih.gov/omim/610205.
This article provides information on the Weill-Marchesani syndrome, a condition caused by changes in the ADAMTS10 gene.
4. Apte SS. ADAMTS family of proteases: multidomain proteins with proteolytic activity. 10.1146/annurev.biochem.77.060407.135423. Annual Review of Biochemistry. 2009;78:181-216.
This review article discusses the ADAMTS gene family and their role in protein degradation and other physiological processes.
5. Research resources used in this study:
- PubMed – https://pubmed.ncbi.nlm.nih.gov/
- OMIM – https://www.omim.org/
- Genetic Testing Registry (GTR) – https://www.ncbi.nlm.nih.gov/gtr/
These resources can provide further information and references for researchers interested in studying the ADAMTS10 gene and its related diseases and conditions.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive registry that lists genes and diseases associated with them. It provides researchers, healthcare professionals, and other interested individuals with valuable information on genetic conditions and changes.
The catalog includes a wide range of genes related to various diseases and conditions. One such gene listed in the registry is the ADAMTS10 gene. This gene has been associated with Weill-Marchesani syndrome, a connective tissue disorder.
For each gene, the catalog provides additional information, including scientific references from PubMed and other relevant resources. Researchers can find articles, genetic testing information, and variant data related to the gene of interest.
The catalog also includes information on other genes related to different diseases and conditions, allowing researchers to explore the genetic basis of various health issues. It serves as a valuable tool for scientists studying the genetic underpinnings of diseases and for healthcare professionals seeking to understand the genetic factors involved in a patient’s condition.
In addition to genes, the catalog also provides information on diseases and conditions themselves. It lists the clinical features, inheritance patterns, and available diagnostic tests for each disease. This information is crucial for diagnosing and managing genetic conditions.
The catalog compiles data from various databases and resources, ensuring that it offers a comprehensive and up-to-date collection of genetic information. By facilitating access to genetic knowledge, the catalog supports further research and advances in understanding and treating genetic diseases.
| Genes | Diseases |
|---|---|
| ADAMTS10 | Weill-Marchesani syndrome |
| … | … |
For more information on the Catalog of Genes and Diseases from OMIM, please visit their website.
Gene and Variant Databases
When it comes to studying and understanding the ADAMTS10 gene and its related variants, researchers rely on different gene and variant databases. These databases provide a wealth of information that can help in the research and testing process. Here are some of the most notable gene and variant databases available:
- The Registry of Genes and Genetic Conditions (www.ncbi.nlm.nih.gov/gtr/): this database provides a comprehensive catalog of genes, genetic tests and related conditions. Researchers can find information on the ADAMTS10 gene and its variants, along with additional resources for testing and other related conditions.
- OMIM (Online Mendelian Inheritance in Man) (www.omim.org): OMIM is a valuable resource that provides information on genetic disorders and variants. Researchers can find references to scientific articles, genetic testing resources, and other related genes and diseases. The ADAMTS10 gene and its variants, including those associated with Weill-Marchesani syndrome, are listed in the OMIM catalog.
- PubMed (pubmed.ncbi.nlm.nih.gov): PubMed is a widely used database for scientific articles and research publications. Researchers can search for articles related to the ADAMTS10 gene and its variants, as well as gain access to additional information on testing and related conditions.
These gene and variant databases provide valuable resources for researchers studying the ADAMTS10 gene and its related variants. They offer a centralized hub of information, making it easier to access and navigate the vast amount of knowledge available in the field of genetics and health.
References
- ADAMTS10 gene
Databases for ADAMTS10 gene:
- Weill-Marchesani Syndrome Registry
Researchers and other scientific articles on ADAMTS10 gene:
- Apte SS. ADAMTS10 in health and disease. Epub 2013 Mar 12. PMID: 23782827
- OMIM: ADAMTS10
- Additional resources for ADAMTS10 gene:
- GeneTests
- PubMed
Related conditions and genetic changes:
- Weill-Marchesani Syndrome
- Other genetic variants of ADAMTS10 gene
Tests and health for ADAMTS10 gene:
- Catalog of genetic tests for ADAMTS10 gene
- Tests for changes in ADAMTS10 gene
Articles and diseases related to ADAMTS10 gene:
- Scientific articles on ADAMTS10 gene
- Information on diseases associated with ADAMTS10 gene
