The GNS gene, also known as N-acetylglucosamine-6-sulfatase, is a large genetic gene that encodes for an enzyme involved in the breakdown and disposal of certain molecules in the body. The GNS gene is associated with a type of genetic condition called mucopolysaccharidosis type III (MPS III), which is characterized by the buildup of certain molecules in various tissues and organs.
According to the OMIM database, the GNS gene is listed as one of the genes associated with mucopolysaccharidosis type III and related diseases. In the OMIM catalog, you can find additional information on the GNS gene, including gene names, protein information, and references to scientific articles.
Genetic testing for changes in the GNS gene can be used to diagnose individuals with mucopolysaccharidosis type III and other related conditions. There are several resources available, such as genetic testing databases and registries, that provide information on available tests for genes like GNS. These resources can help healthcare professionals and individuals find the most relevant and up-to-date information on genetic testing options.
Additional references, such as scientific articles and PubMed, can also provide valuable information on the GNS gene and its role in mucopolysaccharidosis type III. These resources can help researchers and healthcare professionals stay informed about the latest developments in the field and contribute to the understanding of this genetic condition.
Health Conditions Related to Genetic Changes
Genetic changes in the GNS gene, which codes for the enzyme N-acetylglucosamine-6-sulfatase, have been linked to various diseases. These novel genetic changes can have a large impact on the health of affected individuals.
One health condition related to genetic changes in the GNS gene is Mucopolysaccharidosis type III. This disease is characterized by the accumulation of certain substances called mucopolysaccharides in various tissues of the body. The genetic changes in the GNS gene impair the activity of the N-acetylglucosamine-6-sulfatase enzyme, leading to the accumulation of mucopolysaccharides and the development of symptoms associated with this condition.
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To diagnose these genetic changes, genetic testing can be performed. This type of testing involves analyzing the DNA of an individual to identify any changes or variants in the GNS gene. The results of genetic testing can provide valuable information on the specific variant present and its potential impact on health.
There are several resources available to access information on genetic changes in the GNS gene and their associated health conditions. The Online Mendelian Inheritance in Man (OMIM) database, for example, lists scientific articles and references related to genes and their associated diseases. PubMed, another scientific database, also provides access to articles and references on genetic changes and their implications in health conditions.
In addition to these databases, there are registries and catalogs specifically dedicated to collecting information on genetic changes and related health conditions. One such registry is the MPS III Registry, managed by the National MPS Society. This registry collects information from individuals affected by Mucopolysaccharidosis type III and their healthcare providers to further understand the condition and improve patient care.
Genetic tests and the information available in various databases, articles, and registries play a crucial role in understanding the relationship between genetic changes in the GNS gene and associated health conditions. They provide valuable insights into the mechanisms underlying these conditions and contribute to the development of potential treatments and interventions.
Mucopolysaccharidosis type III
Mucopolysaccharidosis type III, also known as Sanfilippo syndrome, is a rare autosomal recessive genetic disorder. It is caused by mutations in the GNS gene, which encodes the enzyme N-acetylglucosamine-6-sulfatase. This enzyme is responsible for breaking down certain complex carbohydrates called glycosaminoglycans (GAGs).
Deficiency or dysfunction of the N-acetylglucosamine-6-sulfatase enzyme leads to the accumulation of glycosaminoglycans, specifically heparan sulfate, in various tissues and organs of the body. This buildup causes progressive damage and dysfunction, resulting in the characteristic signs and symptoms of mucopolysaccharidosis type III.
There are four subtypes of mucopolysaccharidosis type III, each with different clinical features and rates of progression. The subtypes are named Sanfilippo A, B, C, and D, and they are differentiated by the specific enzyme that is affected.
Mucopolysaccharidosis type III is characterized by a wide range of symptoms, including cognitive decline, developmental delay, hyperactivity, sleep disturbances, speech and language difficulties, behavioral problems, and seizures. The severity and progression of symptoms can vary among individuals.
Diagnosis of mucopolysaccharidosis type III is typically confirmed through genetic testing. This involves analyzing the GNS gene for mutations that are known to cause the condition. Genetic testing can also help identify carrier status in family members and provide information for family planning.
Treatment for mucopolysaccharidosis type III is currently symptomatic and supportive, as there is no cure for the condition. It may involve a multidisciplinary approach, including physical therapy, occupational therapy, speech therapy, and medical management of specific symptoms and complications.
For additional information on mucopolysaccharidosis type III, its related conditions, and available resources, the following references and databases may be helpful:
- Online Mendelian Inheritance in Man (OMIM): a comprehensive database of genetic diseases, including mucopolysaccharidosis type III, with detailed information on inheritance patterns, clinical features, and molecular genetics.
- The MPS III Registry: a global patient registry that collects and maintains clinical and genetic information on individuals with mucopolysaccharidosis type III. It provides a platform for sharing information and supporting research.
- Scientific articles: many scientific articles have been published on mucopolysaccharidosis type III, its genetic basis, clinical features, and management. These articles can provide in-depth information and updates on the latest research findings.
- Genetic testing laboratories: several commercial and research laboratories offer genetic testing for mucopolysaccharidosis type III and other genetic conditions. These labs can provide information on available tests, testing procedures, and interpretation of results.
- Large variant databases: databases such as ClinVar and dbSNP can provide information on known genetic variants and their association with mucopolysaccharidosis type III. These resources can be helpful for comparing and interpreting genetic testing results.
Other Names for This Gene
This gene is also known by other names:
- N-acetylglucosamine-6-sulfatase – a large gene that encodes an enzyme responsible for the breakdown of sulfated glycosaminoglycans
- Mucopolysaccharidosis type III – a genetic disorder caused by changes (variants) in this gene, resulting in the deficiency of the enzyme
- Sulfamidase gene – another name for the N-acetylglucosamine-6-sulfatase gene
Information about this gene can be found in various databases and resources. It may be listed under the following names:
| Database/Resource | Other Names |
|---|---|
| OMIM | MPS IIIA, MPS IIIB, MPS IIIC |
| PubMed | Sulfamidase, heparinase, N-sulfate |
| Ruijter et al. (2002) | GNS, SILG, SJAIG1, SGSH |
| Genetic Testing Registry | MPS IIIA, MPS IIIB, MPS IIIC (variants of the GNS gene) |
This gene is associated with various genetic diseases and conditions. In addition to Mucopolysaccharidosis type III, it has been linked to other related conditions.
Scientific articles and references related to this gene and its variants can be found in the literature and scientific catalogs.
Additional Information Resources
For additional information on the GNS gene and related conditions, the following resources may be helpful:
- OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders. The entry for the GNS gene provides information on the gene, its genetic changes, and associated diseases. It can be accessed at https://omim.org.
- PubMed: A database of scientific articles from various journals. Searching for “GNS gene” or “N-acetylglucosamine-6-sulfatase gene” will provide a list of published articles on this topic. PubMed can be accessed at https://pubmed.ncbi.nlm.nih.gov.
- National MPS Society Registry: The National Mucopolysaccharidosis (MPS) Society maintains a registry that collects information on individuals with MPS and related diseases. The registry can be a good resource for connecting with others affected by similar conditions. More information can be found at https://mpssociety.org.
- Genetic Testing Databases: There are various genetic testing databases that may provide information on the GNS gene and testing options for related conditions. Examples include GeneTests and ClinVar. These databases can provide information on genetic changes, variant interpretation, and testing laboratories.
- Scientific Articles: Novel research articles and reviews on the GNS gene and related conditions can be found in scientific journals. Some notable journals in this field include Genetics in Medicine, Human Mutation, and Molecular Genetics and Metabolism.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a large, scientific catalog of genetic tests and other health-related genetic information. It provides a comprehensive list of tests for genetic diseases and conditions, including the GNS gene, which is associated with mucopolysaccharidosis type III.
Tests listed in the GTR include the names of the tests, databases, genes, and additional resources for testing and variant information. The GTR also provides references to articles in PubMed and OMIM, which contain information on genetic changes related to this gene.
For the GNS gene, there are several tests listed in the GTR. These tests are aimed at identifying changes in the gene that can lead to the development of mucopolysaccharidosis type III. They may include testing for specific variants of the GNS gene or testing for changes in other genes related to this condition. The GTR provides detailed information on each test, including its purpose, methodology, and clinical validity.
By consulting the GTR, healthcare professionals and researchers can access a wealth of information on genetic testing for the GNS gene and other genes related to mucopolysaccharidosis type III. This can help in diagnosing the condition, understanding its genetic basis, and developing novel approaches for treatment and management.
| Test Name | Database | Gene |
|---|---|---|
| Ruijter et al., 2017 | GTR | GNS |
| Variant testing for mucopolysaccharidosis type IIIA | Genetic Testing Registry | GNS |
| Novel GNS gene changes in mucopolysaccharidosis type III patients | GTR | GNS |
These examples demonstrate the variety of tests available in the GTR for the GNS gene. The GTR is a valuable resource for healthcare professionals and researchers, providing comprehensive and up-to-date information on genetic testing for a wide range of genes and conditions.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to the GNS gene, its variant, and the diseases it is associated with. The gene is also known as N-acetylglucosamine-6-sulfatase and is responsible for a type III mucopolysaccharidosis condition.
Additional information on genetic changes and other related genes can be found in the catalog of the Online Mendelian Inheritance in Man (OMIM) and the GeneTests registry.
Here are some scientific articles on PubMed that provide novel insights into the GNS gene, its variants, and related conditions:
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Article Title: Identification of a novel variant in the GNS gene.
Authors: Smith J, Johnson A, Ruijter S.
Journal: Journal of Genetics.
Year: 20XX.
PubMed ID: XXXXXXXX.
Summary: This study describes the identification of a novel variant in the GNS gene and its potential implications for disease development.
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Article Title: Genetic testing for mucopolysaccharidosis type III: Current practices and challenges.
Authors: Brown L, Davis M, Smith R.
Journal: Journal of Medical Genetics.
Year: 20XX.
PubMed ID: XXXXXXXX.
Summary: This article reviews the current practices and challenges associated with genetic testing for mucopolysaccharidosis type III, with a focus on the GNS gene.
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Article Title: The role of the GNS gene in the development of mucopolysaccharidosis type III.
Authors: Miller C, Wilson E, Johnson A.
Journal: Molecular Genetics and Metabolism Reports.
Year: 20XX.
PubMed ID: XXXXXXXX.
Summary: This study investigates the specific role of the GNS gene in the development of mucopolysaccharidosis type III and its potential therapeutic implications.
These articles provide valuable scientific information on the GNS gene, its variants, and their association with mucopolysaccharidosis type III. For more detailed information, please refer to the listed references and resources.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogs genes and diseases. It serves as a valuable resource for scientific research, genetic testing, and health information.
OMIM is comprised of information gathered from various sources, including scientific articles published on PubMed. It houses a large registry of genes and their associated diseases, making it an essential tool for studying genetic conditions.
Genes related to various diseases, such as mucopolysaccharidosis type III, are listed in OMIM. For example, the gene N-acetylglucosamine-6-sulfatase (GNS) is one of the genes associated with this condition. OMIM provides detailed information about these genes, including their alternative names and variant changes.
OMIM also provides additional resources, such as references to scientific articles and genetic testing information. This allows researchers and healthcare professionals to stay updated on the latest findings and testing options for specific genes and diseases.
The catalog in OMIM is organized in a user-friendly manner. Genes and diseases are listed alphabetically, making it easy to navigate the database. Each entry provides essential information, such as gene function and associated conditions.
The information in OMIM is continuously updated to include novel findings and changes in genetic knowledge. This ensures that healthcare professionals can access the most accurate and up-to-date information when diagnosing and managing genetic conditions.
| Resources | References |
|---|---|
| OMIM Database | Ruijter, G. J. G., Valstar, M. J., Wijburg, F. A., et al. (2008). High prevalence of individuals with >70% a-galactosidase A activity in Fabry disease: Implications for the diagnosis of Anderson-Fabry disease. Journal of Inherited Metabolic Disease, 31(6), 743-747. |
| PubMed | Valstar, M. J., Ruijter, G. J. G., van Diggelen, O. P., et al. (2008). Sanfilippo syndrome: A mini-review. Journal of Inherited Metabolic Disease, 31(2), 240-252. |
Overall, OMIM is a valuable tool for researchers, healthcare professionals, and individuals interested in genetic information. Its comprehensive catalog of genes and diseases, along with the provided resources and references, make it an indispensable asset for the scientific community.
Gene and Variant Databases
Gene and variant databases play a critical role in understanding the genetic basis of various diseases and conditions. They provide comprehensive information on genes, genetic variants, and their associated phenotypes, helping researchers and healthcare professionals in their scientific studies, diagnostic testing, and treatment decisions.
One of the key databases related to the GNS gene is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of human genes and genetic disorders, including mucopolysaccharidosis type III (MPS III), which is caused by mutations in the GNS gene. OMIM provides detailed information on the genetic changes associated with MPS III and other related conditions.
In addition to OMIM, there are several other databases that provide valuable resources for genetic and scientific research. The Genetic Testing Registry (GTR) is a central resource that provides information on genetic tests and their limitations. It lists the available tests for the GNS gene and other related genes, along with additional information on test methods, laboratory locations, and contacts for further inquiries.
PubMed is another widely used database that contains a vast collection of scientific articles on various topics, including the GNS gene and related genetic conditions. Researchers and healthcare professionals can use PubMed to access published research papers, case studies, and reviews on gene variants, genetic testing, and the pathogenesis of MPS III and other diseases.
The National Center for Biotechnology Information’s (NCBI) Gene database provides detailed information on genes, including the GNS gene. It includes gene names, aliases, genomic location, functional annotations, and references to scientific articles and databases related to the gene.
These databases serve as valuable resources for researchers, healthcare professionals, and individuals seeking information on genetic conditions and their associated genes. They help in identifying novel gene variants, understanding their functional significance, and exploring potential treatment options.
References
Here is a list of some other variant-related articles and resources on GNS gene:
- The Genes and Disease Catalog – Information on genes associated with various diseases, including GNS gene.
- Tests on GNS gene – Registry of tests available for GNS gene testing.
- PubMed – A vast collection of scientific articles, including those related to GNS gene and its association with diverse conditions.
- OMIM – The Online Mendelian Inheritance in Man database, providing information on genetic conditions and the associated genes.
Some of the diseases associated with changes in the GNS gene include:
| Type of disease | Additional names | References |
|---|---|---|
| Large Mucopolysaccharidosis Type III | Sanfilippo syndrome type III | Ruijter et al., 1999 |
For additional health information on novel genetic changes in the GNS gene, it is recommended to consult the aforementioned resources and references.