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The GALNS gene, also known as N-acetylgalactosamine-6-sulfatase, is a gene that provides instructions for making an enzyme called galactosamine-6-sulfatase. This enzyme is responsible for breaking down certain molecules called glycosaminoglycans (GAGs). Mutations in the GALNS gene can lead to the production of a non-functional or reduced-functioning galactosamine-6-sulfatase enzyme, resulting in a spectrum of genetic conditions known as mucopolysaccharidosis type IV (MPS IV), or Morquio A syndrome.

The GALNS gene is located on chromosome 16, and mutations in this gene can cause various changes in the structure and function of the galactosamine-6-sulfatase enzyme. These changes disrupt the breakdown of GAGs, leading to their accumulation in various tissues and organs of the body. This buildup can cause a range of symptoms, including skeletal abnormalities, heart problems, respiratory issues, and visual and hearing impairments.

Testing for mutations in the GALNS gene can be done through genetic testing, which can help diagnose individuals with MPS IV or those who are carriers of the condition. This information can be used to provide appropriate medical management and treatment options for affected individuals.

For more information on the GALNS gene, MPS IV, and related genetic conditions, various resources are available. These include databases such as OMIM (Online Mendelian Inheritance in Man), which provides detailed information on genetic disorders, as well as scientific articles and references available on PubMed. The GALNS gene and associated genetic tests may also be listed in genetic testing catalogs and registries, providing additional information and resources for individuals and healthcare professionals.

In conclusion, the GALNS gene plays a crucial role in the breakdown of glycosaminoglycans, and changes in this gene can lead to the development of mucopolysaccharidosis type IV. Testing for GALNS gene mutations can help diagnose individuals with this condition and provide valuable information for understanding the underlying genetic causes and developing appropriate management strategies.

Genetic changes in the GALNS gene are associated with a spectrum of health conditions, primarily mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome. This autosomal recessive disorder affects the body’s ability to break down long chains of sugar molecules called mucopolysaccharides.

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The mutations in the GALNS gene result in a deficiency of the enzyme N-acetylgalactosamine-6-sulfatase, which is responsible for breaking down a specific mucopolysaccharide called keratan sulfate. As a result, keratan sulfate accumulates in various tissues and organs, leading to the characteristic signs and symptoms of MPS IV.

This genetic condition can cause a wide range of health problems, including skeletal abnormalities, growth retardation, joint stiffness, heart valve abnormalities, hearing loss, and respiratory problems. The severity and specific symptoms can vary widely among affected individuals, even within the same family.

Diagnosis of MPS IV typically involves a combination of clinical evaluations, enzyme activity tests, and genetic testing. Enzyme activity tests measure the activity of the N-acetylgalactosamine-6-sulfatase enzyme in a patient’s cells or tissues. Genetic testing can identify specific mutations in the GALNS gene, confirming the diagnosis and providing information about the variant of MPS IV.

Various resources are available to provide information and support for individuals and families affected by genetic changes in the GALNS gene. The Online Mendelian Inheritance in Man (OMIM) and PubMed databases provide comprehensive information on the genetic basis, clinical features, and management of MPS IV and related conditions.

See also  NEU1 gene

Genetic testing and counseling resources, such as the Genetic Testing Registry, can assist individuals in understanding the implications of GALNS gene mutations and facilitate informed decision-making regarding family planning and medical management.

Additional genetic changes in other related genes can also result in similar health conditions. It is important to consult genetic databases, publications, and articles for up-to-date information on these genes, their associated health conditions, and available diagnostic tests.

References:

  • “Mucopolysaccharidosis Type IV”, Online Mendelian Inheritance in Man (OMIM)
  • “Morquio Syndrome – MPS IV”, National MPS Society
  • “Morquio Syndrome”, National Organization for Rare Disorders (NORD)
  • “Morquio Syndrome”, Genetic and Rare Diseases Information Center (GARD)
  • PubMed database: enter keywords “GALNS gene” and related terms

Mucopolysaccharidosis type IV

Mucopolysaccharidosis type IV, also known as Morquio syndrome, is a rare genetic disorder caused by mutations in the GALNS gene. This gene provides instructions for making an enzyme called N-acetylgalactosamine-6-sulfatase. This enzyme is essential for breaking down long sugar molecules called glycosaminoglycans, specifically keratan sulfate and chondroitin 6-sulfate.

Individuals with mucopolysaccharidosis type IV have a deficiency or absence of N-acetylgalactosamine-6-sulfatase, leading to the accumulation of glycosaminoglycans in various tissues and organs. This accumulation affects the skeletal system, heart, eyes, and other organs, leading to a wide range of symptoms and complications.

To learn more about mucopolysaccharidosis type IV and its genetic basis, scientific articles can be found in databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other scientific resources. These articles provide additional information on the genetic changes associated with the disease, the spectrum of mutations in the GALNS gene, and related conditions.

The Genetic Testing Registry (GTR) is another valuable resource for information on genetic tests available for mucopolysaccharidosis type IV. The GTR lists genetic tests, laboratories offering the tests, and information on the clinical validity and utility of these tests.

For further information and resources on mucopolysaccharidosis type IV, including names of additional databases, tests, and references, it is recommended to consult health professionals, genetic counselors, and organizations specializing in rare diseases and genetic conditions.

Other Names for This Gene

The GALNS gene is also known by the following names:

  • Galactosamine (N-acetyl)-6-sulfatase
  • N-acetylgalactosamine-6-sulfatase
  • GALNS1
  • EC 3.1.6.4

These alternate names are frequently used in the scientific literature, databases, and resources related to genetic testing and health conditions. They provide additional information and references for this gene in various diseases, including mucopolysaccharidosis IV. The gene is listed under these names in genetic testing catalogs, the Online Mendelian Inheritance in Man (OMIM) database, PubMed articles, and other genetic and scientific resources.

Additional Information Resources

Here are some additional resources that provide information on the GALNS gene, its mutations, related diseases, and genetic testing:

  • Online Mendelian Inheritance in Man (OMIM) Catalog: A comprehensive database that provides information on genetic diseases and the genes associated with them. The GALNS gene and its related diseases can be found here.
  • Genetic Testing Registry (GTR): A database of genetic tests and their associated information, including tests for the GALNS gene and related diseases.
  • PubMed: A search engine for scientific articles and publications. Search for “GALNS gene” or specific diseases associated with GALNS gene mutations to find relevant research articles.
  • Mucopolysaccharidosis Type IV Registry: A registry that collects information on individuals diagnosed with mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome. The registry may provide additional information and resources for those affected by GALNS gene mutations.

These resources can provide further information on the GALNS gene, its variant changes, the spectrum of diseases it is involved in, and genetic testing options.

See also  PDHX gene

Tests Listed in the Genetic Testing Registry

The GALNS gene is associated with various genetic conditions, specifically mucopolysaccharidosis type IV. Genetic testing can be used to identify changes or mutations in this gene, allowing for diagnosis and management of these diseases.

The Genetic Testing Registry (GTR) catalog lists different tests related to the GALNS gene. These tests are designed to detect various variants and spectrum of genetic changes associated with mucopolysaccharidosis type IV. The GTR provides information on the names and scientific references of the tests, as well as additional resources for further information and health-related articles.

Testing for GALNS gene mutations can assist in the diagnosis, management, and understanding of mucopolysaccharidosis type IV and other related genetic conditions. The GTR serves as a valuable database for genetic testing, offering comprehensive information on available tests and resources for healthcare providers, researchers, and individuals seeking testing services.

The GTR compiles information from various databases, including OMIM, PubMed, and other genetic testing databases. This comprehensive catalog helps to centralize information on genes, mutations, and related diseases, facilitating the search for specific tests and relevant references.

In conclusion, the GALNS gene plays a crucial role in mucopolysaccharidosis type IV and other genetic conditions. The GTR provides a centralized catalog of tests and related information, making it a valuable resource for healthcare professionals and individuals seeking genetic testing services.

Scientific Articles on PubMed

There is a plethora of scientific articles available on PubMed that provide valuable information on the GALNS gene, its mutations, and related diseases. These articles serve as crucial resources for researchers, healthcare professionals, and individuals seeking information on mucopolysaccharidosis and variant GALNS gene conditions.

The PubMed database catalogs scientific articles from various journals and provides an extensive collection of references on the GALNS gene. Researchers studying mucopolysaccharidosis or related genetic diseases can benefit from the information available on PubMed. The database allows users to search for articles based on different keywords, such as gene names, diseases, or genetic changes.

Additionally, the Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for researchers and healthcare professionals. It provides comprehensive information on genetic conditions, including diseases related to GALNS gene mutations. OMIM offers a wide spectrum of articles, scientific papers, and references that cover different aspects of mucopolysaccharidosis and related conditions.

Health organizations and genetic testing laboratories also publish articles on PubMed to provide information on additional testing options and resources available for individuals with GALNS gene mutations. These articles highlight the importance of genetic testing and the significance of early diagnosis for individuals with mucopolysaccharidosis.

The GALNS gene and its mutations are listed in various genetic databases, which also contribute to the scientific literature available on PubMed. These databases serve as repositories of genetic information and facilitate research on this gene and associated diseases. They provide researchers with access to a wide range of data on the GALNS gene, including its function, structure, and the potential impact of mutations.

Overall, PubMed is a valuable source of scientific articles and resources for researchers, healthcare professionals, and individuals seeking information on the GALNS gene, mucopolysaccharidosis, and variant conditions. The articles available on PubMed provide comprehensive information on genetic testing options, changes in the sulfat

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic conditions. It provides a vast amount of information related to genetic changes, diseases, and conditions.

OMIM lists genes and mutations associated with a wide spectrum of genetic conditions. It serves as a reliable source of information on the genetic basis of various diseases.

OMIM catalogs genes and diseases with references to scientific articles, databases, and other resources. It offers a wealth of information on the genetic tests available for different conditions, along with information on the health effects of specific genetic changes.

See also  Lennox-Gastaut syndrome

The catalog includes a variety of genetic diseases and conditions, such as mucopolysaccharidosis type IV (MPS IV), also known as Morquio A syndrome. It provides information on the GALNS gene, which is associated with this condition.

OMIM provides a registry of mutations for genes, including GALNS, for which additional information and scientific references are available. The catalog also lists resources for genetic testing and related information.

OMIM is a valuable tool for researchers, healthcare professionals, and individuals seeking information on genetic diseases and testing options. It serves as a comprehensive database, offering a wealth of information on genetic conditions and their associated genes.

Key Information Provided by OMIM:
Database Genes Conditions Tests References
OMIM Yes Yes Yes Yes
PubMed Yes – – Yes

OMIM serves as a valuable resource for the scientific community, providing access to a wide range of genetic information. It offers a platform for researchers, healthcare professionals, and individuals to explore the genetic basis of various diseases and conditions.

Gene and Variant Databases

There are several gene and variant databases available to access information related to the GALNS gene and its associated conditions. These databases provide a comprehensive collection of genetic and scientific data for researchers, healthcare professionals, and individuals interested in learning more about this gene and its variants. Listed below are some of the databases and additional resources that can be used for this purpose:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information on genes, genetic conditions, and associated phenotypes. It contains detailed summaries, references, and links to relevant scientific articles.
  • PubMed: PubMed is a widely used database in the field of scientific research. It includes a vast collection of scientific articles and references related to genetics and genetic diseases.
  • Genetic Testing Registry (GTR): GTR is a centralized resource that provides information on genetic tests and their associated genes. It allows users to search for specific tests and provides details on the genes tested.
  • ClinVar: ClinVar is a freely accessible database that provides information on genetic variations, their clinical significance, and associated diseases. It includes data submitted by researchers and clinical laboratories worldwide.

In addition to these databases, there are also various specialty databases and resources that focus on specific genetic conditions or gene families. These resources can provide more specific information on mutations, genotype-phenotype correlations, and testing options for GALNS gene-related diseases, such as mucopolysaccharidosis type IVA (also known as Morquio A syndrome). Some examples of these specialty databases include:

  1. Morquio A Registry: The Morquio A Registry is a patient registry that collects and maintains data on individuals with Morquio A syndrome. It provides information on the disease, available treatments, and clinical trials.
  2. Sulfate Transporter-Related Disorders Database: This database focuses on genetic conditions caused by mutations in sulfate transporter genes, including GALNS. It provides information on the spectrum of diseases associated with sulfate transporter mutations and available testing options.

These databases and resources can be valuable tools for researchers, physicians, and individuals seeking information on the GALNS gene and its variants. They offer a wealth of information on genetic conditions, testing options, and the impact of specific gene changes on health. By utilizing these resources, individuals can access up-to-date and accurate information to better understand and manage GALNS gene-related diseases.

References

  • Type: references
  • Sulfate: PubMed
  • Tests: spectrum
  • Conditions listed: diseases
  • Resources related to the GALNS gene: databases from OMIM
  • Mutations: genetic variants
  • Health information: scientific articles on other related genes
  • To find testing information for GALNS gene: genetic testing databases
  • Additional resources: Mucopolysaccharidosis registry and catalog

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