The GLA gene is listed on Online Mendelian Inheritance in Man (OMIM) and is associated with Fabry disease. Fabry disease is a genetic disorder characterized by the accumulation of globotriaosylceramide (GL-3) in various tissues and organs. The GLA gene provides instructions for making an enzyme called alpha-galactosidase A, which is involved in the recycling of GL-3 in cells.
Changes in the GLA gene can lead to a variant form of Fabry disease. Testing for changes in this gene can be done to diagnose the condition and provide information on the specific variant involved. Additional resources such as the Human Gene Mutation Database, PubMed, and the Fabry Registry provide further scientific articles and references related to GLA gene changes and associated diseases.
The GLA gene is also implicated in other conditions and diseases. Testing for changes in this gene can help in the diagnosis of these related disorders. In addition to OMIM, the Genetic Testing Registry and other databases provide information on testing options, health conditions, and genetic changes associated with the GLA gene.
Health Conditions Related to Genetic Changes
Genetic changes can lead to various health conditions and diseases. Some of the most commonly listed ones include:
- Fabry disease: This genetic disorder is caused by changes in the GLA gene and affects the body’s ability to break down a certain type of fat. Symptoms can include pain, skin rashes, and problems with the kidneys and heart.
- Other genetic changes: There are many other genes that can undergo changes, leading to different health conditions and diseases. The Catalogue of Somatic Mutations in Cancer (COSMIC), the Human Gene Mutation Database (HGMD), and the Online Mendelian Inheritance in Man (OMIM) are valuable resources for information on genetic changes and associated health conditions.
- Disease registries: Disease registries are databases that collect and store information on specific health conditions. These registries often include information on genetic changes associated with the disease, as well as additional resources for testing, treatment, and support.
- Scientific articles: There is a wealth of scientific literature available on genetic changes and their relationship to various health conditions. PubMed is a popular database for accessing scientific articles and references related to genetic changes and diseases.
- Genetic testing: Medical professionals can use genetic testing to identify specific changes in genes that may contribute to certain health conditions. These tests can provide important information for diagnosis, treatment, and prevention.
Understanding the role of genetic changes in health conditions is crucial for advancements in medicine and the development of targeted therapies. By studying genes and genetic changes, researchers can gain insights into disease mechanisms and devise strategies for improving patient care and outcomes.
Fabry disease
Fabry disease is a genetic disorder related to changes in the GLA gene. It is a rare condition that affects the recycling of a lipid called globotriaosylceramide (Gb3). This accumulation of Gb3 in various organs and tissues can cause a range of symptoms and health issues.
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Genetic changes:
- Genetic changes in the GLA gene lead to the production of a defective or insufficient enzyme called alpha-galactosidase A. This enzyme is responsible for breaking down Gb3. Without enough active enzyme, Gb3 accumulates in the body.
Testing and diagnosis:
Testing for Fabry disease involves analyzing the GLA gene to identify genetic changes. Genetic testing can help confirm the diagnosis and identify disease variants in individuals suspected of having Fabry disease. Additional tests, such as measuring alpha-galactosidase A activity or examining Gb3 levels in plasma or urine, may also be performed.
Resources and databases:
- The Online Mendelian Inheritance in Man (OMIM) database provides scientific information on genes, genetic conditions, and related articles.
- The PubMed database houses a vast collection of scientific articles and references.
- The Human Gene Mutation Database (HGMD) is a catalog of gene changes associated with various diseases, including Fabry disease.
Registry and additional information:
The Fabry Registry is a valuable resource for information on Fabry disease and related disorders. It provides a centralized database for collecting and analyzing clinical and genetic data from individuals with Fabry disease.
Other names for Fabry disease include Anderson-Fabry disease and alpha-galactosidase A deficiency.
Other Names for This Gene
- GLA gene
- GLA
- Alpha-galactosidase A gene
- Alpha-D-galactoside galactohydrolase gene
- Alpha-D-galactosidase A gene
- Galactosidase alpha gene
- Agalsidase alpha gene
- GLA-alpha
The GLA gene is also known by several other names, including Alpha-galactosidase A gene, Alpha-D-galactoside galactohydrolase gene, and Galactosidase alpha gene. These names are frequently used interchangeably and refer to the same gene. The protein product of the GLA gene is alpha-galactosidase A, which is responsible for the recycling of a specific type of sugar molecule called globotriaosylceramide (Gb3). Mutations in the GLA gene can lead to the buildup of Gb3, causing a condition known as Fabry disease. The GLA gene has also been implicated in other genetic diseases and conditions.
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Additional Information Resources
- PubMed: a scientific database where you can find articles related to GLA gene testing, diseases, and disorders
- OMIM: a catalog of genetic changes in genes associated with GLA, as well as information on related diseases and conditions
- Fabry Disease Research: a website that provides information on Fabry disease, including diagnostic tests, health articles, and resources for patients
- GeneTests: a database of information on genetic testing for various diseases and conditions, including GLA gene variants
- Recycling GLA Gene: a website that provides information on the recycling processes of the GLA gene and its role in health and disease
- Other Databases and Resources: Other databases and resources may also provide additional information on GLA gene changes, diseases, and related genes. These can be found through references in PubMed, OMIM, and GeneTests.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides information about genetic tests for diseases and conditions. The GTR is a free resource and can be accessed via the National Center for Biotechnology Information (NCBI) website. This registry lists various tests available for different diseases and disorders.
One of the diseases for which genetic tests are listed is Fabry disease. Fabry disease is a rare genetic disorder caused by changes in the GLA gene. These changes affect the recycling of a lipid called globotriaosylceramide (Gb3) in cells. The GTR lists tests related to Fabry disease, providing information on the scientific articles, references, and resources available for this disease.
The GTR includes a catalog of tests for various genetic diseases and genes. In addition to Fabry disease, the registry lists tests for other genes and diseases. These tests can help in diagnosing and managing various health conditions.
The GTR provides information on genetic changes or variants in specific genes. It also offers details on the names of these genes and the diseases they are associated with. The registry links to additional resources, such as OMIM and PubMed, where users can find more information on these genetic changes and related diseases.
| Gene | Variant | Disease | Testing |
|---|---|---|---|
| GLA | Various | Fabry disease | Listed |
| Other genes | Various | Other diseases | Listed |
The GTR serves as a valuable resource for genetic testing information. It provides a centralized repository of tests available for various diseases and genes. By using the GTR, individuals and healthcare professionals can access the latest information on genetic testing and make informed decisions regarding diagnosis and treatment.
Scientific Articles on PubMed
- PubMed is a widely used resource for accessing scientific articles related to genes and genetic diseases.
- It provides a vast database of articles from various sources, including journals, research papers, and conference proceedings.
- By searching with specific keywords such as “GLA gene” or “Fabry disease,” researchers can find relevant articles on this topic.
- The articles available on PubMed cover a wide range of subjects, including the molecular and cellular mechanisms of the GLA gene, its role in disease development, and potential treatment options.
- Scientists can also find articles related to other genes associated with the GLA gene, as well as information on testing and diagnosing Fabry disease.
- In addition to scientific articles, PubMed provides references to other resources such as the Online Mendelian Inheritance in Man (OMIM) catalog and the Genetic Testing Registry, which can provide more information on related conditions and genetic testing options.
- By exploring the listed articles and references, researchers can gain a comprehensive understanding of the GLA gene and its implications in Fabry disease and related disorders.
- PubMed is an essential tool for scientists and healthcare professionals looking for up-to-date information on genetic diseases and other related areas.
- It allows researchers to stay informed about the latest discoveries, advancements, and clinical trials in the field.
- Furthermore, PubMed offers additional resources for understanding the GLA gene, such as articles on changes in the gene that may lead to the development of the disease.
- Researchers can also find information on the recycling of globotriaosylceramide (a key player in Fabry disease) and its potential implications in other diseases.
Access to scientific articles on PubMed provides a rich source of information for researchers and healthcare professionals working on genetic diseases. By utilizing the resources available on this platform, researchers can gain valuable insights into the GLA gene, Fabry disease, and related conditions.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of human genes and genetic disorders. It provides a collection of information on genes, their functions, and associated diseases.
OMIM provides a wealth of resources for researchers, clinicians, and patients interested in genetic disorders. The database is constantly updated with new information, including the latest scientific research, clinical findings, and genetic testing data.
OMIM organizes genes and diseases based on their relationship to each other. Each gene and disease has a unique OMIM number, which serves as a reference for easy access to related information. The database also includes additional names and references for each gene and disease.
For example, the GLA gene, listed as OMIM number 300644, is associated with Fabry disease. Fabry disease is a rare genetic disorder caused by changes in the GLA gene. The OMIM entry for Fabry disease provides detailed information on the gene, the disease, and available genetic testing options.
In addition to genes and diseases, OMIM also provides information on other health conditions and their genetic basis. The database includes variant genes and their association with different diseases or conditions.
OMIM is an invaluable resource for researchers and healthcare professionals working in genetics. It serves as a central repository of knowledge, providing access to a vast collection of articles, scientific papers, and references from other databases and scientific journals.
OMIM is freely available to the public and can be accessed online. It is regularly maintained and updated by a team of experts, ensuring that the information provided is accurate and up-to-date.
In Summary:
- OMIM is a catalog of genes and diseases
- It provides information on genes, their functions, and associated diseases
- OMIM uses unique OMIM numbers to reference genes and diseases
- It includes additional names and references for each gene and disease
- OMIM provides access to scientific articles and references from other databases
- It is freely available online and regularly updated
Gene and Variant Databases
When it comes to genetic research and testing, having access to reliable and comprehensive gene and variant databases is crucial. These databases provide a wealth of information about genes, their variants, and their associated diseases or conditions.
There are several databases available for scientists and other health professionals to access. Some of the most commonly used databases for genetic research and testing include:
- The Human Gene Mutation Database (HGMD): This database contains information on gene mutations and their phenotypic effects.
- OMIM (Online Mendelian Inheritance in Man): OMIM provides a comprehensive catalog of genes and genetic disorders, along with references to other scientific articles and resources.
- PubMed: PubMed is a vast database of scientific articles, including those related to genetic research and diseases.
- The Fabry Registry: The Fabry Registry collects information on patients with Fabry disease, a genetic disorder caused by changes in the GLA gene.
These databases can be used to search for specific genes, variants, diseases, or conditions. They provide valuable information on the genetic basis of diseases, allowing researchers and healthcare professionals to better understand and diagnose various conditions.
Additionally, gene and variant databases are often used in genetic testing. When a genetic test is performed, the results are usually compared to data from these databases to determine the significance of any identified changes or variants.
Overall, these gene and variant databases serve as important resources for the scientific community and healthcare professionals. They provide a wealth of information on genes, genetic changes, and associated diseases, helping to advance our understanding of genetics and improve patient care.
References
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PubMed Health – “GLA gene”
- Fabry disease
- Other names and conditions related to GLA gene
- Databases and resources for testing and genetic information
- References to scientific articles and papers
- Variant changes in the GLA gene
- Globotriaosylceramide changes in the disease
- Additonal information on the disorder
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OMIM – “GLA gene”
- Available catalog of gene references
- Genetic testing resources
- Changes in the GLA gene variant
- Other diseases and conditions from genes related to GLA gene