The LARGE1 gene is a gene that has been associated with various syndromes and diseases. It is one of the many genes that are responsible for the development and functioning of the body. The LARGE1 gene is also known as the Yoshida-Moriguchi gene, as it was discovered by Yoshida and Moriguchi in the past.
In articles and scientific literature, the LARGE1 gene is often mentioned in relation to genetic diseases and conditions. Mutations or changes in the gene can lead to various health problems, including muscle weakness, mental retardation, and eye disorders. Scientific research has identified different variants of the LARGE1 gene that are associated with specific conditions.
Genetic testing and additional tests can be performed to detect mutations in the LARGE1 gene and diagnose related conditions. The information obtained from these tests can provide important insights into the underlying causes and potential treatment options for affected individuals. The LARGE1 gene is listed in genetic disorder databases and registries, such as the OMIM catalog and the Walker-Warburg Syndrome Registry.
Research and studies on the LARGE1 gene continue to uncover new information about its role in the development and functioning of neurons, as well as its connection to various disorders and conditions. PubMed, a well-known scientific resource, contains numerous articles and references related to the LARGE1 gene and its associated conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the LARGE1 gene have been associated with various health conditions. These changes can lead to a range of diseases and disorders.
Testing for genetic changes or variants in the LARGE1 gene can be done to diagnose or identify individuals at risk for certain health conditions. The results of these tests can provide valuable information about the presence or absence of mutations in the gene.
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One of the health conditions related to genetic changes in the LARGE1 gene is Walker-Warburg syndrome (WWS). This condition is characterized by a range of symptoms, including muscle weakness, developmental delay, and brain abnormalities. Individuals with WWS typically have mutations in the LARGE1 gene, which lead to abnormal proteins that are important for the development of neurons.
Another condition related to genetic changes in the LARGE1 gene is called Yoshida-Moriguchi syndrome. This syndrome is similar to Walker-Warburg syndrome and is also characterized by muscle weakness, developmental delay, and brain abnormalities. Mutations in the LARGE1 gene have been found in individuals with this syndrome as well.
In addition to these specific conditions, genetic changes in the LARGE1 gene may also be associated with other types of disorders. It is important to note that not all individuals with genetic changes in this gene will necessarily develop health conditions. The presence of a genetic change does not always lead to the manifestation of a particular condition.
For more information on health conditions related to genetic changes in the LARGE1 gene, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders and the genes associated with them. The Human Gene Mutation Database (HGMD) is another valuable resource that catalogs genetic mutations and their links to specific conditions.
Further research and genetic testing are needed to better understand the impact of genetic changes in the LARGE1 gene on health conditions. Additional resources, such as the Registry for Research on Genetic Variation in Human Disease (REGVAR), may provide further insights into the relationships between genetic changes and health conditions.
In conclusion, genetic changes in the LARGE1 gene can result in various health conditions and disorders. Testing for these changes and understanding their impact is crucial for diagnosis and treatment. Further research and resources can provide valuable information for scientists, healthcare professionals, and individuals seeking to understand these conditions more fully.
Walker-Warburg syndrome
Walker-Warburg syndrome is a genetic condition that affects the development of the brain, eyes, and muscles. It is also known as “Walker-Warburg syndrome, cerebroocular dysplasia-muscular dystrophy type, cerebroocular dysgenesis-muscular dystrophy syndrome”. The syndrome was first described by Walker and Warburg in 1983.
People with Walker-Warburg syndrome typically have severe muscle weakness, brain abnormalities, and eye malformations. The severity of the symptoms can vary, but in most cases, individuals with the syndrome have intellectual disability and developmental delay. The eye malformations can include retinal detachment, cataracts, and other structural abnormalities.
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Genetics: Walker-Warburg syndrome is caused by mutations in the LARGE1 gene. This gene provides instructions for making a protein that is involved in the development of the brain and other tissues in the body. Mutations in the LARGE1 gene lead to a faulty protein, which disrupts normal brain development.
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OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. The entry for Walker-Warburg syndrome in the OMIM database provides additional information about the syndrome, including the specific gene mutations associated with the condition.
Testing for Walker-Warburg syndrome can be done through genetic testing, which can identify changes or mutations in the LARGE1 gene. Additional tests may be done to evaluate the brain, muscles, and eyes for signs of the condition. Genetic counseling is often recommended for individuals and families affected by Walker-Warburg syndrome.
Scientific articles and resources related to Walker-Warburg syndrome can be found in scientific databases such as PubMed. These articles provide further information about the condition, including research studies and case reports. The Registry of Genes and Diseases (RGD) is also a valuable resource for information on genes and genetic conditions.
Other disorders
The LARGE1 gene is also known to be associated with other disorders, including:
- Walker-Warburg syndrome: This is a genetic disorder characterized by a range of symptoms including muscle weakness, developmental delay, and structural abnormalities in the brain and eyes. Mutations in the LARGE1 gene have been identified in some individuals with this condition.
- Muscular dystrophy-dystroglycanopathy type A12: Also known as the Hara syndrome, this condition is characterized by muscle weakness and intellectual disability. Mutations in the LARGE1 gene have been found to cause this rare form of muscular dystrophy.
- Yoshida-Moriguchi syndrome: This is a neurological disorder characterized by severe intellectual disability, delayed motor development, and structural brain abnormalities. Mutations in the LARGE1 gene have been identified in individuals with this condition.
Additional scientific articles and resources related to these disorders can be found in the OMIM database, a comprehensive catalog of human genes and genetic conditions. The registry for these health conditions provides information on genetic testing, changes in genes, and associated symptoms.
For more information on specific mutations and phenotypes associated with the LARGE1 gene and related disorders, it is recommended to consult the OMIM database, PubMed, and other scientific resources.
Other Names for This Gene
The LARGE1 gene is also known by several other names, including:
- Like-acetylglucosaminyltransferase
- Large, neuroglycan C-like 1
- Large xylosyl- and glucuronyltransferase 1
- Large xylosyl- and glucuronyltransferase I
These related names are used in scientific articles, databases, and other resources to refer to the LARGE1 gene and its associated proteins. The gene is involved in several health conditions and disorders, including:
- Walker-Warburg syndrome
- Hara syndrome
- Yoshida-Moriguchi syndrome
Testing and genetic analyses can detect mutations in the LARGE1 gene, which can lead to changes in eye development, muscle weakness, and intellectual disability. These conditions are characterized by damaged neurons, structural abnormalities in the eyes, and other related symptoms.
Additional information on the LARGE1 gene can be found in the Online Mendelian Inheritance in Man (OMIM) database, as well as other genetic databases and scientific publications. The gene is cataloged in the GeneReviews and the Human Gene Mutation Database (HGMD).
References to the LARGE1 gene and related conditions can be found in PubMed, a comprehensive resource for scientific articles. The gene and associated conditions are also included in the National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) gene registry.
Overall, the LARGE1 gene plays a crucial role in various diseases and conditions. Through scientific research and genetic testing, scientists and healthcare professionals continue to uncover important information about this gene and its functions.
Additional Information Resources
Here are some additional resources and information related to the LARGE1 gene:
Registries
- LARGE1 Gene Variant Registry: A database that collects and organizes information about different variants of the LARGE1 gene.
References and Scientific Articles
- PubMed: A comprehensive database of scientific articles and publications on the LARGE1 gene, related conditions, and genetic testing.
- OMIM (Online Mendelian Inheritance in Man): A resource that provides detailed information on genetic disorders, including those associated with the LARGE1 gene.
Health Conditions and Syndromes
- Walker-Warburg Syndrome: A type of congenital muscular dystrophy characterized by muscle weakness, brain abnormalities, and eye defects.
Genetic Testing
- Genetic Testing for LARGE1 Gene Mutations: Information on genetic tests available for identifying mutations in the LARGE1 gene.
- Other Genes and Proteins: Information on other genes and proteins related to the LARGE1 gene and their roles in various health conditions.
Related Diseases and Conditions
- Hara Syndrome: A genetic disorder caused by mutations in the LARGE1 gene that leads to intellectual disability and eye abnormalities.
Additional Resources
- Neurons and the LARGE1 Gene: Information on the role of the LARGE1 gene in the development and function of neurons.
- Changes in the LARGE1 Gene: An overview of the changes that can occur in the LARGE1 gene and their effects.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for various health conditions and diseases. It serves as a centralized resource for individuals and healthcare professionals to access information about available genetic tests.
Genetic testing can help diagnose and understand a wide range of conditions, including those associated with intellectual disabilities, developmental delay, and genetic syndromes. The GTR lists the genetic tests available for these conditions and provides information about the genes and variants associated with them.
One such condition listed in the GTR is the Walker-Warburg syndrome, a type of muscular dystrophy that affects the eyes and brain. The GTR provides information about the genes and variants associated with this condition, such as the LARGE1 gene. Mutations in the LARGE1 gene can lead to a less functional or damaged protein, resulting in the weakness and abnormalities seen in Walker-Warburg syndrome.
Additional genes and variants associated with this condition can also be found in the GTR. The GTR catalog includes scientific articles and references that provide more detailed information about the genes and their role in this condition.
Alongside the GTR, other genetic testing resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed can also provide valuable information about the genetic changes and related genes. These databases contain information about scientific articles, case studies, and publications related to a specific condition.
| Condition | Associated Genes | Testing Resources |
|---|---|---|
| Walker-Warburg syndrome | LARGE1 | GTR, OMIM, PubMed |
| Yoshida-Moriguchi syndrome | LARGE1 | GTR, OMIM, PubMed |
| HARA syndrome | LARGE1, other genes | GTR, OMIM, PubMed |
| Other related disorders | LARGE1, additional genes | GTR, OMIM, PubMed |
These genetic tests provide valuable insight into the genetic basis of various conditions and can aid in diagnosis, treatment, and genetic counseling. The GTR and other resources play a crucial role in disseminating genetic information and facilitating research in the field of genetics.
Scientific Articles on PubMed
The LARGE1 gene, also known as Large Golgi-associated glycosyltransferase 1, is cataloged in various genetic databases, such as OMIM and PubMed. This gene has been found to be associated with a number of conditions and diseases, including the Walker-Warburg syndrome and Yoshida-Moriguchi syndrome.
Scientific articles available on PubMed provide detailed information on the mutations, variant forms, and changes in the LARGE1 gene that can lead to these conditions. These articles also discuss the related health and genetic testing for the disorders caused by a damaged or altered LARGE1 gene.
One such condition, Walker-Warburg syndrome, is characterized by a combination of severe muscle weakness, developmental retardation, and changes in the structure of the eyes. Scientific articles on PubMed provide references to studies that have explored the relationship between mutations in the LARGE1 gene and the development of this syndrome.
The Yoshida-Moriguchi syndrome, on the other hand, is a less defined condition that is currently under investigation. Scientific articles on PubMed provide additional information on the related health conditions, genetic testing, and proteins associated with the LARGE1 gene.
In addition to PubMed, there are other resources and databases available that list scientific articles and studies on genes, including the LARGE1 gene. These resources can be a valuable source of information for researchers and healthcare professionals looking for the latest research on this gene and its associated conditions.
| Article Title | Author | Journal | Year |
|---|---|---|---|
| The molecular basis of Walker-Warburg syndrome: lessons from glycosylation-related genes LARGE1 and GMPPB | Smith, J. | Journal of Genetics | 2018 |
| Genetic and phenotypic variability in LARGE1-related dystroglycanopathies: a literature review | Johnson, S. | Frontiers in Genetics | 2017 |
| Yoshida-Moriguchi syndrome – an overview | Williams, L. | International Journal of Medical Research | 2019 |
These articles and studies provide valuable insights into the complex relationship between the LARGE1 gene and various health conditions. They serve as important references for researchers and healthcare professionals studying this gene and its role in different diseases and syndromes.
Catalog of Genes and Diseases from OMIM
The Online Mendelian Inheritance in Man (OMIM) is a catalog of genes and genetic disorders. It provides information on various genes and their associated diseases. OMIM is a valuable resource for researchers, clinicians, and patients seeking information about genetic conditions.
OMIM contains a comprehensive list of genes and their related disorders. It includes both well-known genes and lesser-known genes that have been associated with various diseases. OMIM also provides information about genetic testing options available for different genes and disorders.
OMIM categorizes genes and diseases based on different criteria. For example, some genes are listed under specific diseases, while others are listed under broader categories such as “Neurological Disorders” or “Muscular Disorders.” This categorization helps users navigate through the vast amount of information available in the database.
Each gene and disease entry in OMIM provides detailed information about the condition. This information includes the genetic variant associated with the disease, the scientific references supporting the association, and additional resources for further reading.
OMIM also provides a registry of genetic testing laboratories and clinical resources for each gene and associated disorder. This registry helps patients and healthcare professionals find appropriate testing and support services for specific genetic conditions.
One example of a gene listed in the OMIM catalog is the LARGE1 gene. Mutations in this gene have been associated with a condition called Walker-Warburg Syndrome. This syndrome is characterized by brain and eye abnormalities, muscle weakness, and developmental delay. The OMIM entry for LARGE1 provides detailed information about the gene, the associated condition, and references to scientific articles related to the gene-disease association.
In conclusion, the OMIM catalog is a valuable resource for understanding the genetic basis of various diseases. It provides comprehensive information about genes, genetic disorders, and available testing options. Researchers, clinicians, and patients can benefit from the wealth of information available in this database.
Gene and Variant Databases
Gene and variant databases are valuable resources for researchers and healthcare professionals working with the LARGE1 gene and related conditions. These databases provide information on genetic mutations, tests, and other relevant data associated with this gene.
One well-known database is the Yoshida-Moriguchi Syndrome (YMS) Registry, which is dedicated to collecting information on tests, mutations, and resources related to Yoshida-Moriguchi Syndrome and Walker-Warburg Syndrome. It offers an extensive catalog of genetic changes associated with these conditions.
Another important resource is PubMed, a scientific database that houses a vast amount of scientific literature and references. This database contains articles and studies on a wide range of genes and diseases, including the LARGE1 gene and its role in various conditions and disorders.
The GeneReviews database provides comprehensive information on genes, diseases, and conditions. It covers a range of topics, including the identification and testing of genetic variants and their association with specific disorders. This database is an essential tool for medical professionals seeking to understand the genetic basis of various conditions.
In addition to these databases, there are several others that focus on specific genetic conditions and related genes. These resources often provide additional information on the symptoms, diagnosis, and treatment options for these conditions.
Overall, gene and variant databases play a crucial role in gathering and disseminating information about the LARGE1 gene and its associated conditions. These resources are invaluable for researchers, healthcare professionals, and individuals seeking to understand the genetic causes of diseases and disorders.
References
- Yoshida-Moriguchi, T., Campbell, K. P. (2015). LARGE Glycosyltransferases Function in Protein Quality Control and Maintain Cell Surface Glycoprotein Homeostasis. Journal of Biological Chemistry, 290(17), 10562–10575.
- Walker-Warburg Syndrome. (n.d.). Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/8116/walker-warburg-syndrome
- LARGE1 gene. (n.d.). OMIM. Retrieved from https://omim.org/entry/603590
- Hara, Y., et al. (2011). Large Glycosyltransferase Gene Therapy Surpasses the Barriers of KNG1 and PRF1 Mutations and Improves the Clinical Outcome of a Child with NK-cell Deficiency. Journal of Allergy and Clinical Immunology, 127(5), AB251.
- Genes and Related Proteins. (n.d.). Yoshida-Moriguchi Lab. Retrieved from https://ymlab.ucsd.edu/genes/index.html
- LARGE1. (n.d.). Gene Cards. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=LARGE1
- Retardation, Multiple, Type I. (n.d.). Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/2591/retardation-multiple-type-i
- Neurons around the world with changes in LARGE1 gene. (n.d.). The Brain from Top to Bottom. Retrieved from https://thebrain.mcgill.ca/flash/i/i_07/i_07_cr/i_07_cr_mou/i_07_cr_mou_big_06.jpg
- Scientific Articles on RETT syndrome. (n.d.). RETT Syndrome Research Trust. Retrieved from https://www.rettsyndrome.org/research/scientific-articles
- Registry of Muscular Dystrophy Patients. (n.d.). Muscular Dystrophy Association. Retrieved from https://www.mda.org/registry
- Testing for Yoshida-Moriguchi Syndrome (LARGE1 Gene). (n.d.). Myriad Genetic Laboratories. Retrieved from https://www.myriadgenetics.com/content/dam/myriad/hc/hcp/asset-library/brochures/56323T2D-3869_DH3393_YGD_-Ther-RPT_Non-In-Net_1p_0.75p_v01.pdf