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The NAGLU gene, also known as N-acetylglucosaminidase alpha, is responsible for encoding an enzyme that plays a crucial role in the breakdown of glycosaminoglycans. Variants in this gene have been found to be associated with various genetic conditions, including Sanfilippo syndrome (mucopolysaccharidosis type III).

According to the OMIM database, mutations in the NAGLU gene have been identified in individuals with Sanfilippo syndrome type B, an autosomal recessive disorder characterized by the accumulation of excessive glycosaminoglycans in various tissues. This leads to a range of symptoms, including intellectual disability, behavioral problems, and progressive neurological deterioration. Additionally, changes in the NAGLU gene have also been associated with Charcot-Marie-Tooth disease type 2W, a genetic disorder affecting the peripheral nerves.

Information about the NAGLU gene can be found in various scientific articles and databases such as PubMed and OMIM. These resources provide additional information on the genetic changes, disease associations, and testing options related to this gene. Genetic testing for variants in the NAGLU gene can be beneficial for individuals with suspected or confirmed genetic conditions linked to this gene.

For healthcare professionals and researchers, the NAGLU gene is listed in genetic databases and registries that catalog information on genes and their associated conditions. These resources provide access to references, articles, and other scientific information related to the NAGLU gene and its role in human health.

In summary, the NAGLU gene is a key gene involved in the breakdown of glycosaminoglycans. Mutations in this gene are associated with various genetic conditions, including Sanfilippo syndrome and Charcot-Marie-Tooth disease type 2W. Scientific articles, databases, and genetic testing can provide valuable information and resources for further understanding the NAGLU gene and its implications in human health.

Genetic changes in the NAGLU gene can lead to various health conditions. These changes can be identified and studied through the registry, health databases, and scientific articles. PubMed is a valuable resource for finding information about genetic changes related to diseases.

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One of the diseases associated with genetic changes in the NAGLU gene is Sanfilippo syndrome type III. This disease is characterized by a deficiency of the enzyme alpha-N-acetylglucosaminidase, which is encoded by the NAGLU gene. Genetic tests can identify changes in this gene which can help diagnose Sanfilippo syndrome type III.

Additional health conditions related to genetic changes in the NAGLU gene include other types of mucopolysaccharidosis, Charcot-Marie-Tooth disease, and various other genetic diseases.

Information about these genetic changes and associated health conditions can be found in resources such as OMIM (Online Mendelian Inheritance in Man) and other genetic testing databases. These databases provide information on gene names, variant information, disease names, and references to scientific articles.

It is important to stay updated with the latest scientific research and information on genetic changes and related health conditions. This information can aid in the diagnosis and management of these diseases, as well as lead to potential therapies and treatments.

  • Registry: A database or collection of information
  • Health databases: Databases containing health-related information
  • Scientific articles: Articles published in scientific journals
  • Related diseases: Diseases that are connected or associated with each other
  • Genetic changes: Alterations or mutations in genes
  1. DNA testing
  2. Prenatal testing
  3. Carrier testing
Condition Gene
Sanfilippo syndrome type III NAGLU
Mucopolysaccharidosis NAGLU, other genes
Charcot-Marie-Tooth disease NAGLU, other genes

Mucopolysaccharidosis type III

Mucopolysaccharidosis type III, also known as Sanfilippo syndrome, is a rare genetic disease that affects the metabolism of mucopolysaccharides. It is characterized by the accumulation of partially degraded heparan sulfate in the body, which leads to progressive damage in various tissues and organs.

See also  Genetic Conditions R

NAGLU gene is one of the genes associated with Mucopolysaccharidosis type III. Mutations in this gene result in a deficiency of an enzyme called alpha-N-acetylglucosaminidase, which is responsible for breaking down heparan sulfate. The lack of this enzyme leads to the buildup of heparan sulfate and the subsequent symptoms of the disease.

Testing for Mucopolysaccharidosis type III can be done through genetic testing. This involves analyzing the NAGLU gene for changes or mutations that are associated with the disease. Genetic testing can help confirm a diagnosis and provide information about the specific variant of Mucopolysaccharidosis type III.

Additional information about Mucopolysaccharidosis type III can be found in scientific articles, databases, and genetic resources. The OMIM catalog, PubMed, and the Genetic Testing Registry are some of the resources that provide information on the disease, related genes, and available tests.

Health organizations and other resources may also provide information and support for individuals and families affected by Mucopolysaccharidosis type III. It is important to seek information from reliable sources and consult with healthcare professionals for accurate and up-to-date information.

The disease is one of the variants of Charcot-Marie-Tooth disease. For more information on Charcot-Marie-Tooth disease, its genes, and related diseases, additional references can be found in scientific articles and databases.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT) is a genetic disorder that affects the health of the nerves in the arms and legs. It is named after the three physicians who first described it: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.

CMT is caused by changes (variants) in genes that are listed in scientific databases such as OMIM, PubMed, and the Genetic Testing Registry. There are different types of CMT, with each type being related to specific genetic changes.

Testing for CMT can be done on genes that are known to be associated with the disease. The Genetic Testing Registry provides information on available tests for CMT, including references to articles and scientific literature. Additional information on genetic testing for CMT can be found in the OMIM catalog, which also lists the genes and their associated changes.

CMT is sometimes referred to as hereditary motor and sensory neuropathy (HMSN). It is also related to other conditions such as mucopolysaccharidosis III (Sanfilippo syndrome). Information on these related diseases can be found in scientific articles and genetic resources.

Overall, CMT is a complex disease with various types and genetic changes. It is important to consult scientific databases and resources for accurate and up-to-date information on the gene variants, testing methods, and related conditions.

Other Names for This Gene

  • Mucopolysaccharidosis III Genes
  • SGSH Genes
  • Sulfamidase Genes
  • NAGLU Genes

Additional information about the NAGLU gene can be found in the following resources:

  • OMIM: Provides information on genetic changes, variant types, and related diseases. OMIM entry for the NAGLU gene can be found here.
  • Genetic Testing Registry: Lists genetic tests for the NAGLU gene, along with information on laboratories offering the tests. The Genetic Testing Registry entry for the NAGLU gene can be found here.
  • GeneReviews: Offers in-depth information on various genetic conditions. The GeneReviews article on Sanfilippo Syndrome Type III, which includes information on the NAGLU gene, can be found here.
  • PubMed: Provides access to scientific articles and references related to the NAGLU gene. PubMed search results for the NAGLU gene can be found here.

Additional Information Resources

Below is a list of additional resources that provide information on the NAGLU gene and related conditions:

  • Catalog of Genetic Tests and Testing Laboratories: This catalog provides a list of genetic tests that are available for the NAGLU gene and related genes. It also includes information on testing laboratories that offer these tests.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on the genetic basis of human diseases. It includes detailed information on the NAGLU gene, as well as other genes associated with mucopolysaccharidosis type III (Sanfilippo syndrome).
  • PubMed: PubMed is a database of scientific articles and research papers. Searching for the keywords “NAGLU gene” or “mucopolysaccharidosis type III” in PubMed can provide a wealth of information on the genetic and molecular aspects of this disease.
  • Charcot-Marie-Tooth Association: This organization provides resources and support for individuals and families affected by Charcot-Marie-Tooth disease, which is one of the conditions associated with NAGLU gene mutations.
See also  Juvenile polyposis syndrome

It is important to note that this is not an exhaustive list, and there may be other resources available that can provide additional information on the NAGLU gene and related conditions.

Tests Listed in the Genetic Testing Registry

The NAGLU gene is associated with various genetic diseases, specifically mucopolysaccharidosis type IIIB (Sanfilippo syndrome type B). Genetic testing can be performed to identify changes or variants in this gene that are linked to these diseases.

The Genetic Testing Registry provides a catalog of tests related to the NAGLU gene. The registry lists the names of the tests, the diseases or conditions they are used for, and additional information such as the type of genetic testing method used.

Tests listed in the registry can include both clinical and research tests. Clinical tests are those performed in a diagnostic setting to identify genetic changes associated with a specific disease or condition. Research tests, on the other hand, are often part of scientific studies to investigate the function or impact of specific gene variants.

The information provided in the registry can be valuable for healthcare professionals and researchers looking for resources related to genetic testing of the NAGLU gene. The registry also serves as a reference for scientific articles, databases, and other related resources.

Additional information on specific tests listed in the registry can often be found in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide detailed information on genetic diseases, genes, and the specific variants associated with them.

In summary, the Genetic Testing Registry is a comprehensive catalog of tests related to the NAGLU gene. It provides information on the names of the tests, the diseases they are used for, and additional scientific resources such as articles and databases. Healthcare professionals and researchers can use this information to access the latest knowledge on genetic testing for specific diseases, including mucopolysaccharidosis type IIIB.

Scientific Articles on PubMed

PubMed is a comprehensive database of scientific articles on various topics. It serves as an important resource for researchers, healthcare professionals, and individuals interested in gaining further knowledge on genetic diseases and related conditions.

The NAGLU gene, also known by other names such as Sanfilippo syndrome type IIIA and Charcot-Marie-Tooth disease type 2N, is associated with several genetic conditions. PubMed lists numerous articles related to this gene and its variants.

These articles provide valuable information on the NAGLU gene, its role in disease development, and potential treatment options. They also highlight any recent scientific advancements and changes in our understanding of this gene.

In addition to the NAGLU gene, PubMed catalogs articles on various other genetic conditions. These articles cover a wide range of topics, including diagnostic tests, genetic testing, symptoms, and treatment options. They provide a wealth of information for healthcare professionals and individuals seeking to learn more about specific diseases.

PubMed references articles from a variety of scientific databases, including OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive online catalog of genetic conditions and associated genes. It provides detailed information on the genetics, symptoms, and management of various diseases.

The articles listed in PubMed can serve as important references for genetic testing laboratories, healthcare providers, and researchers studying genetic conditions. They provide information on the latest research findings, genetic variant classifications, and testing strategies.

In summary, PubMed is a valuable resource for accessing scientific articles related to the NAGLU gene, genetic conditions, and other related areas of research. It offers a wealth of information and resources to aid in understanding and managing genetic diseases.

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Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive online database that provides information about genetic disorders and their associated genes. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information about various health conditions and genetic testing.

The catalog includes a wide range of diseases, with each disease listed under its respective gene. For example, the NAGLU gene is associated with Sanfilippo syndrome type III. OMIM provides detailed information about the genetic changes in these genes that cause the disease and references scientific articles and other databases for additional information.

In the case of the NAGLU gene, OMIM lists the disease as Mucopolysaccharidosis type IIIC, also known as Sanfilippo syndrome type III. This genetic condition affects the body’s ability to break down certain molecules called mucopolysaccharides, leading to the buildup of these substances in various tissues and organs.

OMIM provides a wealth of information about the symptoms, diagnostic tests, and management options for Sanfilippo syndrome type III. It also offers resources for genetic testing, including links to testing laboratories and registries.

In addition to Sanfilippo syndrome type III, OMIM contains information on thousands of other genetic conditions. Users can search for specific diseases or genes of interest, or browse through the catalog using the alphabetical listing of disease names.

OMIM is an invaluable tool for researchers and healthcare professionals working in the field of genetics. Its comprehensive and user-friendly interface provides quick access to a wealth of information, aiding in the understanding and management of genetic disorders.

References:

  • OMIM: Online Mendelian Inheritance in Man. Available at: [insert OMIM website]
  • Charcot-Marie-Tooth Disease Overview. Available at: [insert relevant article from OMIM]
  • PubMed: OMIM. Available at: [insert PubMed article from OMIM]

Gene and Variant Databases

Genes and variants play a crucial role in the development and progression of various diseases and conditions. Understanding the genetic changes associated with these conditions is essential for accurate diagnosis, prognosis, and personalized treatment. Several databases provide comprehensive information about genes and variants related to different diseases. Here are some notable databases:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that catalogues information about genes and genetic conditions. It provides detailed information on the genes, their functions, and associated diseases. The database also includes references to scientific articles related to each gene or condition, allowing users to access additional information.
  • PubMed: PubMed is a renowned database that provides access to a vast collection of scientific articles. It contains information about gene-related research studies, including genetic changes associated with different diseases. Researchers can use PubMed to find relevant articles and stay updated with the latest advancements in the field.
  • GeneTests: GeneTests is a comprehensive resource that provides information on genetic testing for various conditions. It includes information about the tests available, the genes involved, and the diseases they are associated with. GeneTests also provides links to additional resources and laboratories offering genetic testing services.
  • Mucopolysaccharidosis type III registry: The Mucopolysaccharidosis type III registry is a specialized database dedicated to the genetic disorder known as Sanfilippo syndrome. It catalogues information about the genes and variants associated with this condition, facilitating research and supporting patient care.

These databases, among others, offer valuable resources for researchers, healthcare professionals, and individuals seeking information about genetic conditions and genes. They serve as essential tools for understanding the genetic basis of diseases and exploring potential therapeutic targets.

References

  • Genetic Testing Registry:

    https://www.ncbi.nlm.nih.gov/gtr

    • Information on genetic tests for NAGLU gene changes:

    1. Test 1

    2. Test 2

  • Additional resources and databases:

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