The MAN2B1 gene is associated with alpha-mannosidosis, a rare genetic disorder that affects various organs and tissues throughout the body. Alpha-mannosidosis is caused by mutations in the MAN2B1 gene, which provides instructions for making the alpha-mannosidase enzyme. This enzyme is involved in breaking down complex sugar molecules.
Information about the MAN2B1 gene and alpha-mannosidosis can be found in various scientific resources and databases. The OMIM database provides detailed information on the genetic changes associated with alpha-mannosidosis, as well as additional references and articles related to the condition.
Genetic testing can be done to identify changes in the MAN2B1 gene and confirm a diagnosis of alpha-mannosidosis. This testing can be done through specialized laboratories and genetic testing providers. The results of genetic testing can help healthcare professionals develop appropriate treatment plans and provide information on the prognosis and potential complications of the condition.
Research on the MAN2B1 gene and alpha-mannosidosis is ongoing, with scientists working to better understand the disease and develop new therapies. The Alpha-Mannosidosis Registry is a comprehensive catalog of information on alpha-mannosidosis patients that is used by researchers to improve knowledge about the disease and its variants.
In conclusion, the MAN2B1 gene is a key player in the development of alpha-mannosidosis, a rare genetic disorder with significant effects on various organs and tissues. Genetic testing, scientific resources, and databases provide valuable information for healthcare professionals and researchers working in this field.
Health Conditions Related to Genetic Changes
Genetic changes in the MAN2B1 gene can lead to various health conditions. Scientific research has identified several diseases and disorders associated with changes in this gene. Some of these conditions include:
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- Alpha-Mannosidosis: This is a rare genetic disorder caused by mutations in the MAN2B1 gene. It affects the alpha-mannosidase enzyme, which is responsible for breaking down certain complex sugars in the body. As a result, individuals with alpha-mannosidosis may experience intellectual disability, skeletal abnormalities, facial dysmorphism, hearing loss, and various organ dysfunctions.
To learn more about these health conditions and the genetic changes in the MAN2B1 gene, you can refer to the following resources:
- The Online Mendelian Inheritance in Man (OMIM) database: It provides detailed information on genetic diseases and their associated genes. The entry for the MAN2B1 gene and related conditions can be found on the OMIM website.
- The National Institutes of Health (NIH) Genetic Testing Registry: This database offers a comprehensive list of genetics tests available for specific genes and conditions. You can search for genetic tests related to the MAN2B1 gene on the NIH Genetic Testing Registry website.
- The PubMed database: It contains scientific articles and research papers on various health conditions. Searching for the MAN2B1 gene or related diseases on PubMed can provide you with additional scientific references and articles.
If you suspect that you or someone you know may have a genetic change in the MAN2B1 gene or related health condition, it is important to consult a healthcare professional. They can provide you with accurate information, genetic tests, and guidance on managing and treating these conditions.
Alpha-mannosidosis is a rare genetic disorder caused by changes in the MAN2B1 gene. This gene provides instructions for making an enzyme called alpha-mannosidase, which is responsible for breaking down certain proteins in the body. When the MAN2B1 gene is altered, alpha-mannosidase is not produced in sufficient amounts, leading to a buildup of complex sugars called mannose-rich oligosaccharides in various organs and tissues.
Alpha-mannosidosis can cause a variety of health problems, including skeletal abnormalities, intellectual disabilities, hearing loss, and recurrent infections. The severity of the condition can vary widely, with some individuals experiencing mild symptoms while others have more severe complications.
Diagnosis of alpha-mannosidosis involves a combination of clinical examination, additional tests, and genetic testing. These tests can help confirm the presence of specific changes in the MAN2B1 gene and rule out other diseases with similar symptoms. Genetic testing may be carried out using various resources, such as databases and registries, to identify known variants of the MAN2B1 gene.
For further information on alpha-mannosidosis and related genetic conditions, the OMIM (Online Mendelian Inheritance in Man) database and PubMed are valuable resources. These databases provide access to scientific articles, references, and other articles related to the genetic changes, symptoms, and treatment options for alpha-mannosidosis.
It is important for individuals and families affected by alpha-mannosidosis to seek medical advice and genetic counseling. Genetic counselors can provide information on available tests, treatment options, and support resources. They can also help interpret genetic test results and provide guidance on managing the condition.
- Niissen, P. F. (2016). Alpha-Mannosidosis. GeneReviews®. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1397/
Other Names for This Gene
The MAN2B1 gene is also known by other names:
- Lysosomal alpha-D-mannosidase
These names are used interchangeably to refer to the MAN2B1 gene and its related genetic conditions.
Additional information about this gene and related conditions can be found in the scientific literature, online genetic databases, and health resources. These resources provide articles and references on genetic testing, changes in the gene, diseases and conditions associated with the gene, and the organs and systems affected by alpha-mannosidosis.
Some of the databases and registries where you can find more information about the MAN2B1 gene and related conditions include OMIM, PubMed, and the International Registry on Alpha-Mannosidosis. These resources list articles, genetic tests, and other information related to this gene.
Additional Information Resources
For more information on the MAN2B1 gene and related genetic conditions, you can refer to the following resources:
- Articles on the MAN2B1 gene and related genes in PubMed
- Databases and resources for genetic information on various conditions and genes
- Catalog of genetic tests and changes in genes
- OMIM – an online catalog of genetic diseases and related genes
- References listed in scientific articles related to the MAN2B1 gene and alpha-mannosidosis
- Epub by Nilssen – additional information on testing for alpha-mannosidosis
- Alpha-Mannosidosis Registry – a registry for individuals with alpha-mannosidosis and related conditions
- Information on organs and changes in the MAN2B1 gene
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry is a comprehensive catalog of genetic tests, including those related to the MAN2B1 gene. This registry provides information on various genetic tests, their associated conditions, and additional resources for further reading and research.
The MAN2B1 gene, also known as alpha-mannosidase, is associated with a rare condition called alpha-mannosidosis. This genetic disorder is characterized by the deficiency of the alpha-mannosidase enzyme, resulting in the buildup of mannose-containing oligosaccharides in various organs and tissues.
In the Genetic Testing Registry, there are several tests listed for the MAN2B1 gene. These tests aim to detect the presence of variants or changes in this gene that may be associated with alpha-mannosidosis. The registry provides detailed information on the specific tests, including their names, testing laboratories, and available clinical information.
Additionally, the registry includes links to other relevant resources, such as OMIM (Online Mendelian Inheritance in Man), PubMed articles, and scientific databases. These resources offer further insights into the genetic basis of alpha-mannosidosis, related conditions, and potential treatment options.
For individuals seeking genetic testing for alpha-mannosidosis or related conditions, the Genetic Testing Registry serves as a valuable tool. It helps healthcare professionals and patients identify the available testing options, access clinical information, and connect with genetic testing laboratories.
The inclusion of tests for the MAN2B1 gene in this registry underscores the importance of genetic testing in diagnosing and managing rare genetic diseases. By understanding the genetic basis of these conditions, healthcare professionals can provide targeted care and support to affected individuals and their families.
Scientific Articles on PubMed
Searching for scientific articles on the MAN2B1 gene, also known as alpha-mannosidosis, can provide valuable information on the genetic changes associated with this rare condition. PubMed is a comprehensive database of articles from various scientific journals and provides a rich resource for genetic information and research.
By using keywords such as “MAN2B1” or “alpha-mannosidosis” in the PubMed search bar, researchers can find articles and studies related to this gene and its role in the development of alpha-mannosidosis. This can be particularly helpful for understanding the genetic changes responsible for the disease and how they impact the affected individual’s health.
In addition to PubMed, there are other databases and resources available for finding scientific articles on the MAN2B1 gene. The Online Mendelian Inheritance in Man (OMIM) database is a catalog of genes, genetic diseases, and related information. It provides a comprehensive overview of the genetic changes associated with alpha-mannosidosis and other diseases.
Genetic testing for alpha-mannosidosis can also be facilitated by searching for articles and studies on the MAN2B1 gene. By understanding the specific genetic changes, healthcare professionals can perform targeted genetic tests to confirm the diagnosis in individuals with symptoms related to alpha-mannosidosis. This can help in providing appropriate treatment and management strategies.
Epub Ahead of Print articles on PubMed provide early access to scientific articles that have been accepted for publication. These articles can be a valuable source of information for researchers seeking the latest research findings on the MAN2B1 gene and alpha-mannosidosis.
References to other scientific articles and resources can also be found within articles on PubMed. These references can serve as a starting point for researchers looking for additional information on the MAN2B1 gene, alpha-mannosidosis, or related topics. By exploring these references, researchers can access a broader range of publications and gain a deeper understanding of the gene’s role in the development of alpha-mannosidosis.
In conclusion, PubMed and other databases offer a wealth of scientific articles on the MAN2B1 gene and alpha-mannosidosis. These articles can provide valuable insights into the genetic changes, health conditions, and related tests associated with this rare genetic disorder. Researchers and healthcare professionals can use these resources to further their understanding of the genetic variant, its effects on the body, and potential treatment options.
Catalog of Genes and Diseases from OMIM
OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic diseases. It is a valuable resource for scientists, researchers, and healthcare professionals who are interested in understanding the genetic basis of various conditions.
OMIM provides a registry of genes and their associated diseases. For each gene, OMIM provides information on its various names, genetic changes, and the organs or systems affected by the related diseases. This information is especially useful for genetic testing and diagnosis.
One rare genetic disorder listed in OMIM is alpha-mannosidosis, which is caused by changes in the MAN2B1 gene. This gene encodes the enzyme alpha-mannosidase, which is responsible for breaking down mannosidase in cells.
OMIM offers additional resources and references for further scientific exploration. It includes links to related articles, databases, and other genetic testing resources. OMIM also provides a PubMed link to access peer-reviewed articles related to specific genes and diseases.
Overall, OMIM serves as a valuable catalog for researchers and healthcare professionals seeking information on a wide range of genetic conditions. Its comprehensive database of genes and diseases, along with the available references and resources, makes it a valuable tool in the field of genetics.
Gene and Variant Databases
Gene and variant databases are valuable resources for researchers, scientists, and healthcare professionals. These databases provide a comprehensive listing of genes and their associated variants, making it easier to study and understand rare genetic diseases.
One of the most well-known gene databases is OMIM (Online Mendelian Inheritance in Man). This database provides detailed information on genetic conditions, genes, and their associated variants. Researchers can use OMIM to find information on genes related to alpha-mannosidosis and other genetic diseases.
Another important resource is the MAN2B1 gene database. This database specifically focuses on the MAN2B1 gene and its variants. It provides information on the gene’s function, mutations, and associated diseases. Scientists and healthcare professionals can consult this database for additional details on alpha-mannosidosis and related conditions.
In addition to these databases, there are several other genetic databases available. Some databases, like PubMed, provide access to scientific articles and references. These articles may contain information on genetic changes, diseases, and testing methods.
Health organizations and institutions also maintain genetic databases. These databases often have registries of genes related to specific conditions or organs. They provide valuable resources for researchers and healthcare professionals looking for information on specific genes or diseases.
Genetic testing is another important aspect of these databases. Many databases provide information on available genetic tests for specific genes or conditions. This can help healthcare professionals determine the appropriate testing methods for their patients.
Overall, gene and variant databases serve as essential tools for researchers and healthcare professionals. They provide a central catalog of genes, variants, and related information, facilitating research and understanding of rare genetic diseases.
The following references provide additional information on the MAN2B1 gene and alpha-mannosidosis:
- Nilssen Ø. (2001). “Alpha-Mannosidosis”. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. Available from https://www.ncbi.nlm.nih.gov/books/NBK1389/
- OMIM. (2022). Alpha-Mannosidosis. In: Online Mendelian Inheritance in Man. Baltimore, MD: Johns Hopkins University; 2022. Available from https://omim.org/entry/248500
- Genetic Testing Registry (GTR). (2022). Alpha-Mannosidosis. Bethesda (MD): National Library of Medicine (US). Available from https://www.ncbi.nlm.nih.gov/gtr/tests/456380/
- Disease Name and Synonyms. (n.d.). Alpha-Mannosidosis. Rare Diseases and Related Terms Database (RaDaR). Available from https://rarediseases.org/rare-diseases/alpha-mannosidosis/
- Scientific Article. (2022). Title of the article. Journal Name. Volume(Issue):Page numbers. Available from https://pubmed.ncbi.nlm.nih.gov/12345678
- Additional Resources. (n.d.). Alpha-Mannosidosis. National Organization for Rare Disorders (NORD). Available from https://rarediseases.org/rare-diseases/alpha-mannosidosis/
- Nilssen Ø. (2007). Alpha-Mannosidosis. In: Valle D, Beaudet AL, Vogelstein B, et al., editors. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill Companies, Inc. Available from https://ommbid.mhmedical.com/content.aspx?bookid=2709§ionid=225914319