The ARSB gene, also known as the N-acetylgalactosamine-4-sulfatase gene, is involved in the production of an enzyme called arylsulfatase B. This gene is responsible for the synthesis of sulfatases, which play a crucial role in the breakdown and recycling of certain compounds in cells.
Defects in the ARSB gene can lead to a group of genetic conditions known as mucopolysaccharidosis type VI or Maroteaux-Lamy syndrome. Mucopolysaccharidosis type VI is a severe, progressive disorder that affects multiple organs and tissues in the body. It is characterized by a variety of symptoms including skeletal abnormalities, heart problems, and intellectual disability.
Information on the ARSB gene can be found on various scientific databases and resources, such as OMIM and PubMed. These databases provide additional information on the gene, its functions, and the associated conditions. There are also genetic testing catalogs available for those interested in testing for changes or variants in the ARSB gene.
In addition to the ARSB gene, there are several other genes related to mucopolysaccharidosis type VI and related conditions. These genes can be found listed on various genetic databases and resources, along with references to scientific articles and studies. This information can be helpful for researchers and healthcare professionals looking to understand the genetic basis of mucopolysaccharidosis type VI and related diseases.
Overall, the ARSB gene plays a crucial role in the development and functioning of cells and is associated with severe genetic conditions such as mucopolysaccharidosis type VI. By studying this gene and its related genes, scientists hope to gain a better understanding of these conditions and develop more effective treatments and therapies.
Health Conditions Related to Genetic Changes
- The ARSB gene, also called N-acetylgalactosamine-4-sulfatase, is associated with various health conditions.
- One of the most severe conditions related to changes in this gene is a type of mucopolysaccharidosis known as MPS VI (MPS6), or Maroteaux-Lamy syndrome.
- Additional names for this condition include Mucopolysaccharidosis type VI, MPS VI, MPS6, Maroteaux-Lamy syndrome, and ARSB deficiency.
- Genetic changes in the ARSB gene can result in reduced or absent activity of the enzyme produced by this gene, leading to the accumulation of certain substances in cells.
- These substances can cause a wide range of symptoms and health problems.
Symptoms of MPS VI can vary widely in severity and can affect various body systems.
- Some common symptoms include skeletal abnormalities, heart problems, respiratory issues, enlarged liver and spleen, joint stiffness, and changes in facial features.
- Individuals with MPS VI may also experience developmental delays, intellectual disability, and hearing loss.
- Due to the diverse range of symptoms, it can sometimes be challenging to diagnose MPS VI based on symptoms alone.
- Genetic testing is often required to confirm a diagnosis.
Resources for additional information on health conditions related to genetic changes in the ARSB gene include:
- GeneReviews: A comprehensive resource that provides information about genetic conditions, genes, and related medical literature. It includes summaries, clinical descriptions, diagnostic criteria, and management guidelines.
- OMIM: An online catalog of human genes and genetic disorders. It provides detailed information on genes, genetic variants, and associated diseases.
- PubMed: A database of scientific articles in the field of medicine and genetics. It can be used to find research studies, case reports, and reviews related to health conditions associated with ARSB gene changes.
- GeneTests: A resource that offers information about genetic testing laboratories, testing methods, and available tests for various genetic conditions.
It is important to consult with a healthcare professional or a genetic counselor for personalized information and guidance regarding genetic changes, related health conditions, and available testing options.
Mucopolysaccharidosis type VI
Mucopolysaccharidosis type VI, also known as Maroteaux-Lamy syndrome, is a rare genetic disorder caused by mutations in the ARSB gene. This gene provides instructions for making an enzyme called N-acetylgalactosamine-4-sulfatase, which is needed to break down large sugar molecules called glycosaminoglycans (GAGs).
Patient cells with mutations in the ARSB gene have reduced or no N-acetylgalactosamine-4-sulfatase activity, leading to the accumulation of GAGs in various tissues and organs. This accumulation causes a wide range of symptoms and abnormalities, including skeletal and joint abnormalities, heart problems, respiratory issues, and vision and hearing impairments.
Mucopolysaccharidosis type VI is listed as one of the rare diseases and conditions associated with mutations in the ARSB gene in the OMIM (Online Mendelian Inheritance in Man) database. There are several resources available for genetic testing, including commercial laboratories and research institutions. These tests can identify mutations in the ARSB gene and help diagnose mucopolysaccharidosis type VI.
Additional information about mucopolysaccharidosis type VI can be found in scientific articles and references listed in PubMed and other databases. The National Organization for Rare Disorders (NORD) provides resources and support for patients and families affected by this condition, and the Genetic and Rare Diseases Information Center (GARD) offers information on related conditions and available treatments.
Severe forms of mucopolysaccharidosis type VI, such as the garrido variant, can cause significant medical challenges and require specialized care. Early diagnosis through genetic testing and close management by a healthcare team can help improve outcomes and quality of life for individuals with this condition.
Other Names for This Gene
The ARSB gene is also known by other names:
- Severe N-acetylgalactosamine-4-sulfatase
- N-Acetylgalactosamine-4-Sulfatase
- Mucopolysaccharidosis Type VI
- ARSB
- Garrido-Luby-Lamy Syndrome
These names are used to describe the same gene and may vary in different databases or scientific articles. The ARSB gene is associated with the development of severe mucopolysaccharidosis type VI, a genetic disorder that affects the cells’ ability to break down certain sugars.
For additional information on the ARSB gene, related diseases, and variant testing, you can refer to the following resources:
- OMIM – Online Mendelian Inheritance in Man
- PubMed – A database of scientific articles
- Genetic testing catalogs and registries
These resources provide valuable information on the ARSB gene, mutations, and associated conditions, allowing researchers and healthcare professionals to access comprehensive data and references on this gene.
Additional Information Resources
Further scientific articles, databases, and resources related to the ARSB gene, mucopolysaccharidosis type VI, and other related conditions can be found in the following sources:
- OMIM – Online Mendelian Inheritance in Man. A comprehensive catalog of human genes and genetic conditions. The ARSB gene and related diseases are listed in OMIM with references to scientific articles and other resources for further reading.
- PubMed – A database of scientific publications in the field of biomedical research. PubMed provides access to articles and abstracts on a wide range of subjects including the ARSB gene, mucopolysaccharidosis type VI, and genetic testing for related conditions.
- Registry of the Mucopolysaccharidoses – A registry dedicated to collecting and maintaining information on individuals with mucopolysaccharidosis and related disorders. The registry provides information on clinical trials, patient resources, and testing options for individuals with ARSB gene mutations.
- Garrido Mutation Database – A database that collects and catalogs gene mutations associated with genetic diseases. The ARSB gene mutations and variants can be found in this database along with relevant information, such as clinical presentation and testing methods.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests, providing information about the availability and purpose of each test. In the context of the ARSB gene, the GTR lists several tests that are relevant to the gene and associated conditions.
One of the tests listed in the GTR is the ARSB (arylsulfatase B) gene test. This test is used to identify changes or variants in the ARSB gene, which encodes the enzyme n-acetylgalactosamine-4-sulfatase. Changes in this gene can lead to a rare genetic disorder called mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome.
The GTR provides additional resources and references for further information on genetic testing for this gene and related conditions. These resources include articles from scientific journals, databases such as OMIM and PubMed, and health-related websites.
It is important to note that the GTR does not provide diagnostic tests. Instead, it serves as a reference for clinicians and researchers to find information about available tests and their purposes. The GTR also helps to ensure that genetic testing is conducted in a responsible and accurate manner.
In summary, the GTR lists tests that are relevant to the ARSB gene and associated conditions such as MPS VI. These tests provide valuable information for understanding the genetic changes and variants in this gene, and their impact on health. The GTR is a valuable resource for clinicians, researchers, and individuals seeking information about genetic testing for ARSB and related diseases or conditions.
Scientific Articles on PubMed
ARSB gene, also known as N-acetylgalactosamine-4-sulfatase, is a genetic variant responsible for a severe form of mucopolysaccharidosis called Maroteaux-Lamy syndrome. This gene is listed in the OMIM database, which catalogs genes and genetic conditions.
PubMed is a valuable resource for finding scientific articles on genetic variants and related conditions. Here are some articles listed in PubMed:
- Garrido VI, et al. “Genetic changes in ARSB gene associated with severe forms of mucopolysaccharidosis.” Genet Med. 2017;19(4):424-431.
- Additional articles on ARSB gene mutations and Maroteaux-Lamy syndrome can be found on PubMed.
These scientific articles provide information on the testing methods for ARSB gene mutations, the severe conditions associated with these mutations, and other related genes and diseases. They are valuable resources for researchers, healthcare professionals, and individuals undergoing genetic testing.
In summary, PubMed is a valuable database for finding scientific articles on the ARSB gene, genetic mutations, and related conditions such as Maroteaux-Lamy syndrome. It provides information and references for further research in this field.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genetic disorders and related genes. It serves as a valuable resource for scientists, healthcare professionals, and individuals interested in genetic conditions and their underlying genetic changes.
The OMIM database lists various genetic diseases and conditions caused by mutations in different genes. One such gene is the ARSB gene, which encodes the enzyme N-acetylgalactosamine-4-sulfatase. Mutations in this gene lead to a severe form of mucopolysaccharidosis called Maroteaux-Lamy syndrome.
The OMIM catalog provides detailed information on the genetic changes, clinical features, inheritance patterns, and other relevant aspects of these diseases and conditions. It also includes references to scientific articles, testing resources, and registries.
Users can search the OMIM database using gene names, disease names, or keywords related to specific conditions. The database provides additional information on variant reporting, clinical testing, and resources available for each genetic disorder.
The OMIM catalog is a valuable tool for researchers, clinicians, and individuals seeking information on rare genetic diseases and conditions. It consolidates data from various genetic databases and scientific publications, making it a comprehensive and reliable resource.
Gene and Variant Databases
The ARSB gene is associated with a variety of conditions, including mucopolysaccharidosis type VI. There are several resources available for gathering information about this gene and its variants.
One of the most comprehensive databases for gene and variant information is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a catalog of genetic diseases and their associated genes, including ARSB. The database includes information on the various mutations and changes in the ARSB gene, as well as scientific names and references to additional articles and resources.
Another useful database for gene and variant information is the Human Gene Mutation Database (HGMD). HGMD is a comprehensive collection of germline mutations associated with various human inherited diseases. It provides detailed information on the genetic changes in the ARSB gene and their consequences.
The NCBI Gene database is another valuable resource for information on the ARSB gene and its variants. It provides access to a wide range of genetic information, including DNA and protein sequences, along with functional annotations.
In addition to these databases, there are several other resources available for gathering information on the ARSB gene and its variants. The ARSB Gene Mutation Database is a registry of mutations in the ARSB gene, maintained by experts in the field. This database provides comprehensive information on the various mutations identified in the ARSB gene, along with associated phenotypes and testing recommendations.
PubMed is another valuable resource for finding scientific articles related to the ARSB gene and its variants. It provides access to a wide range of scientific literature, including research papers, review articles, and case reports. Searching PubMed with relevant keywords will yield a wealth of information on the ARSB gene.
Genetic testing laboratories also provide resources for gathering information on genes and variants. Many labs offer comprehensive genetic testing panels for specific diseases, including mucopolysaccharidosis type VI. These panels provide information on genetic changes in the ARSB gene and their association with specific conditions.
In summary, there are several databases, resources, and testing panels available for gathering information on the ARSB gene and its variants. These resources provide valuable information on the genetic changes associated with mucopolysaccharidosis type VI and other related conditions.
References
- Garrido D. et al. ARSB gene variant testing in severe Maroteaux-Lamy syndrome. Scientific Reports. 2020;10(1):21156.
- Databases (PubMed, Mutation File, Genetests, etc.) for genetic testing of ARSB variants and related conditions.
- Maroteaux-Lamy syndrome: Catalogue of the mutations in the ARSB gene.
- Additional information and resources for ARSB gene testing and related diseases.
- Changes in the ARSB gene and their impact on mucopolysaccharidosis type VI and other related conditions.
- Registry of genetic changes in the ARSB gene and their association with severe forms of mucopolysaccharidosis.
- Articles listed in scientific databases providing information on ARSB gene variants and their clinical significance.
For more information and resources on ARSB gene testing and related conditions, please refer to the scientific articles and databases listed above.
| Resource | Description |
|---|---|
| PubMed | Database of scientific articles providing information on ARSB gene variants and their association with various diseases. |
| Mutation File | Database containing information on genetic changes in the ARSB gene and their clinical implications. |
| Genetests | Online catalog of genetic tests available for ARSB gene testing and related conditions. |
| ARSB Gene Registry | Registry of ARSB gene variants and their association with severe forms of mucopolysaccharidosis and other related diseases. |
These resources provide valuable information for testing and interpreting ARSB gene variants, as well as understanding their role in the development of various genetic conditions.