The GALC gene is a genetic variant that is associated with Krabbe disease, also known as globoid cell leukodystrophy. Krabbe disease is a rare degenerative disorder that affects the nervous system, particularly the myelin sheath, which is the protective covering of nerve fibers. This genetic mutation results in a deficiency of the GALC enzyme, which is responsible for breaking down a substance called galactosylceramide. As a result, galactosylceramide builds up in the body and damages nerve cells.
The GALC gene is listed on the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genetic conditions and genes. Genetic tests can identify mutations in the GALC gene, providing valuable information for diagnosis and prognosis. The GALC gene is one of the common genes included in genetic testing panels for neurological disorders.
In addition to GALC gene mutations, there are several other genes that have been found to be associated with Krabbe disease. Genetic testing resources and databases, such as PubMed and other scientific articles, provide information on the different genetic variants and their associated conditions.
Understanding the genetic changes in the GALC gene and other related genes can help improve diagnosis, treatment, and prognosis for individuals with Krabbe disease. It can also provide valuable information for genetic counseling and family planning. With advances in genetic research and technology, the availability of resources and information on genetic conditions continues to expand.
However, it is important to note that genetic testing and the information from genetic databases should be used in conjunction with other clinical evaluations. Genetic testing results cannot replace a thorough medical evaluation and should be interpreted by a qualified healthcare professional.
Health Conditions Related to Genetic Changes
Genetic changes in the GALC gene can lead to various health conditions. These conditions are relatively common and may result from mutations, variants, or other genetic changes in this gene.
Some of the health conditions related to genetic changes in the GALC gene include:
- Krabbe disease: Genetic changes in the GALC gene can cause Krabbe disease, a severe nerve disease. This disease is characterized by the degeneration of the nervous system and can result in significant neurological and developmental impairments.
Additional health conditions related to genetic changes in the GALC gene can be found in scientific articles, genetic testing databases, and other resources. Some of these conditions may be listed in online databases such as OMIM (Online Mendelian Inheritance in Man) or the Genetic Testing Registry. However, it is important to note that the presence of a genetic variant or mutation in the GALC gene does not necessarily mean an individual will develop these diseases.
For more information on the specific health conditions related to genetic changes in the GALC gene, additional references can be found in scientific articles available in databases such as PubMed.
Please consult with a healthcare professional or a genetic counselor for more information about genetic testing and the potential health implications associated with genetic changes in the GALC gene.
Krabbe disease
Krabbe disease, also known as globoid cell leukodystrophy, is a rare genetic disorder characterized by the breakdown of the protective covering of nerve cells in the brain and other parts of the body. It is caused by mutations in the GALC gene, which provides instructions for making an enzyme called galactosylceramidase.
A PubMed search using the keywords “krabbe disease” yields numerous articles and scientific resources providing additional information on this condition. One such resource is the Krabbe Disease Registry, which collects data on patients with this disease to help researchers better understand its genetic changes, testing methods, and severity.
Tests such as genetic testing, blood tests, and nerve conduction studies can be used to diagnose Krabbe disease. These tests help identify GALC gene mutations and assess the severity of the disease. Additional resources and information can be found through the National Organization for Rare Disorders (NORD), the Genetic and Rare Diseases Information Center (GARD), and other genetic health databases.
Common symptoms of Krabbe disease include developmental delay, muscle weakness, vision loss, seizures, and hearing loss. The disease can vary in severity, with some individuals experiencing more rapid progression and severe symptoms at an early age.
There are currently no cures for Krabbe disease, but supportive treatments and therapies can help manage the symptoms and improve quality of life for affected individuals. Research is ongoing to develop potential treatments, and clinical trials may be available for those interested in participating.
For more information on Krabbe disease, refer to the following references:
- “Krabbe Disease.” Online Mendelian Inheritance in Man (OMIM). OMIM #245200. Accessed at https://www.omim.org/entry/245200.
- “Krabbe Disease.” National Organization for Rare Disorders (NORD). Accessed at https://rarediseases.org/rare-diseases/krabbe-disease/.
- “Krabbe Disease.” Genetic and Rare Diseases Information Center (GARD). Accessed at https://rarediseases.info.nih.gov/diseases/2629/krabbe-disease.
Other Names for This Gene
- galactosylceramide beta-galactosidase (deficiency)
- Krabbe disease
- globoid cell leukodystrophy
- galactocerebrosidase
- GALC
- GalC
- ASA
- arylsulfatase A
- EC 3.1.6.8
- OLFJ1
- galactosylceramidase
- galactosylceramide beta-galactosidase
- glk
- galc
- galct
- SPG57
- SGH
- dysmyelinating leukodystrophy, Krabbe type
- α-galactosidase
Additional Information Resources
Below is a list of additional resources that provide information on the GALC gene:
- Genes: The GALC gene is listed under Gene ID 2581 on the National Center for Biotechnology Information (NCBI) website.
- References: For a comprehensive list of references related to GALC gene and its variant changes, you can visit the NCBI’s PubMed database.
- Other Genes: GALC is commonly associated with Krabbe disease, and these genes may be related to other diseases or conditions.
- Genetic Testing: To find information on genetic tests for GALC gene and related conditions, you can visit the Genetic Testing Registry (GTR) website.
- Scientific Publications: The NCBI’s PubMed database also provides a collection of scientific articles on GALC gene and related topics.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database includes additional information on GALC gene, including associated diseases, clinical features, and inheritance patterns.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) catalogs genetic tests for various diseases and conditions. Below is a list of tests associated with the GALC gene, which is responsible for the production of galactosylceramide. Mutations in this gene can lead to the development of diseases such as Krabbe disease.
| Test Name | Test Description |
|---|---|
| Krabb-Disease-GALC | This test detects changes (mutations) in the GALC gene associated with Krabbe disease. Krabbe disease is a rare genetic disorder that affects the nervous system. |
| Krabbe Disease – Full Gene Sequencing | This test examines the entire GALC gene to identify mutations associated with Krabbe disease. It provides comprehensive information about genetic changes in the gene. |
| Krabbe Disease – Deletion/Duplication Analysis | This test specifically looks for large-scale genetic changes in the GALC gene, such as deletions or duplications. These changes can significantly impact the severity of Krabbe disease. |
| Krabbe Disease – Variant Analysis | This test focuses on specific known variants of the GALC gene that are associated with Krabbe disease. It provides information about the presence of these specific variants. |
| Krabbe Disease – GALC Gene Sequencing Panel | This panel test examines multiple genes, including GALC, that are associated with Krabbe disease and other related neurological disorders. It provides a broader analysis for a comprehensive diagnosis. |
For additional information about these tests or other genetic testing options, you can visit the GTR website and search by gene, disease, or test name. The GTR website also provides links to scientific articles, databases, and other resources for further reading.
Scientific Articles on PubMed
When conducting research on the GALC gene, it is essential to refer to scientific articles and publications for accurate information. PubMed is a widely recognized registry of scientific articles that provides a comprehensive catalog of research in the field of genetics and other health-related disciplines. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic diseases and conditions.
By searching for the GALC gene on PubMed, you can find numerous articles that discuss various aspects of this gene, including its function, genetic tests, and associated diseases. These articles may provide additional information about common mutations, names of related genes, and associated diseases.
Genetic testing is crucial to identify potential disease carriers or individuals affected by genetic conditions such as Krabbe disease. PubMed offers a wealth of resources on GALC gene testing, including articles that outline the testing process, the severity of the disease, and references to specific genetic mutations.
OMIM (Online Mendelian Inheritance in Man) is another valuable resource listed on PubMed. It is a comprehensive database that provides information on genetic diseases and their associated genes. OMIM includes information on Krabbe disease and its related conditions.
In addition to PubMed and OMIM, there are other databases and resources available for accessing genetic information. These resources can provide valuable insight into disease severity, testing protocols, and treatment options for various genetic conditions.
When conducting research on the GALC gene, it is important to refer to reputable scientific articles and references cited in PubMed. While online resources can provide a wealth of information, it is crucial to rely on peer-reviewed research for accurate and reliable data. PubMed serves as a trusted platform for accessing scientific articles on the GALC gene and related topics.
In conclusion, when researching the GALC gene, it is essential to refer to scientific articles and publications available on PubMed. These articles provide valuable information on the gene, associated diseases, testing protocols, and other related topics. By relying on reputable sources like PubMed, researchers and healthcare professionals can access reliable and up-to-date information about the GALC gene and its implications on human health.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides a comprehensive registry of genetic conditions and the corresponding genes associated with them. OMIM (Online Mendelian Inheritance in Man) is a database that collects information on genetic disorders and their related genes, as well as other genetic variations and traits.
The primary purpose of the catalog is to facilitate genetic testing and research. By providing a centralized repository of information, healthcare professionals and researchers can easily access information on specific genes and associated diseases. This information is crucial for diagnosing and treating patients with genetic conditions.
The catalog lists the genetic changes, or variants, that have been identified in each gene. These variants can range from simple changes in a single DNA nucleotide to more complex rearrangements or mutations. The severity of these genetic changes can vary greatly, leading to a wide spectrum of disease manifestations.
In addition to the genes and their associated variants, the catalog also provides information on the diseases linked to these genes. Each disease is listed with its common and additional names, as well as a brief description of its characteristics and symptoms. This information is valuable for healthcare professionals and researchers studying specific diseases.
The catalog also includes references to scientific articles and resources, such as PubMed, where additional information on the genes and diseases can be found. This allows users to explore the latest research and discoveries in the field of genetics.
In cases where specific genetic tests are available for a particular gene or disease, the catalog provides information on the availability of these tests and the laboratories that offer them. This helps healthcare professionals and patients identify appropriate testing options.
Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone interested in genetic conditions and their underlying genetic causes. It serves as a comprehensive database that brings together information from various sources, making it easier to access and utilize in the field of genetics.
Gene and Variant Databases
When studying the GALC gene and related variants, it is essential to refer to reliable gene and variant databases. These databases provide a catalog of information on genes, genetic changes, and associated diseases. They serve as valuable resources for researchers, scientists, and healthcare professionals in understanding the genetic basis of various conditions.
Here are some of the commonly used gene and variant databases:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides detailed information on a wide range of genetic conditions. It includes gene descriptions, variant information, clinical features, inheritance patterns, and references to scientific articles.
- PubMed: PubMed is a vast online repository of scientific articles and publications. It contains a wealth of information on the GALC gene, its variants, and the associated diseases. Researchers can use PubMed to access relevant studies, clinical trials, and case reports.
- The Krabbe Disease Registry: The Krabbe Disease Registry is a specialized database dedicated to collecting data on individuals diagnosed with Krabbe disease, which involves genetic changes in the GALC gene. The registry serves as a valuable source of information for understanding the severity of the disease, its progression, and potential treatment options.
- Other Gene and Variant Databases: In addition to OMIM and PubMed, there are several other databases that provide information on genes, variants, and associated diseases. These include the Genetic Testing Registry (GTR), the Human Gene Mutation Database (HGMD), and the ClinVar database. These databases offer additional resources for researchers and healthcare professionals.
It is important to note that the information provided in these databases is constantly updated as new research findings emerge. As such, it is crucial to stay up to date with the latest scientific publications and references to ensure that the most accurate and current information is utilized.
In summary, gene and variant databases are valuable tools for studying the GALC gene, its variants, and the associated diseases. Researchers, scientists, and healthcare professionals can rely on these resources to access detailed information, references, and clinical data related to these conditions.
References
- Additional resources: For additional information about GALC gene, Krabbe disease, and related conditions, see the following resources:
- OMIM: A comprehensive catalog of human genes and genetic disorders. Visit the online Mendelian Inheritance in Man (OMIM) database to find more information about GALC gene and related diseases.
- PubMed: Search scientific articles for GALC gene, Krabbe disease, and related topics. PubMed is a database of biomedical literature and research articles.
- Genetic Testing Registry: Find information about genetic tests for GALC gene and other related genes. The Genetic Testing Registry provides information about available tests, as well as laboratories that perform these tests.
- Common names and other variant names: GALC gene may also be referred to by other names, including:
- Krabbe disease gene
- Galactosylceramide beta-galactosidase gene
- GLD gene
- References: For a list of references and articles related to GALC gene and Krabbe disease, please refer to the scientific articles and resources listed above.