The LAMA2 gene is one of the genes related to the laminins, which are a family of proteins that play a crucial role in the structure and function of tissues. This gene is specifically related to lama2-related muscular dystrophy and is listed in various databases and resources.
LAMA2 is also known as the alpha-2 subunit of laminin and is involved in the formation of basement membranes. Mutations in this gene can lead to various conditions and diseases, including congenital muscular dystrophy, limb-girdle muscular dystrophy, and cholangiocarcinoma.
Scientists and researchers have conducted numerous studies on the LAMA2 gene and have published many articles on the topic. Additional information on this gene, including genetic testing and variant information, can be found in the Online Mendelian Inheritance in Man (OMIM) catalog and other scientific databases.
For individuals interested in learning more about lama2-related muscular dystrophy and the LAMA2 gene, there are several resources available. These resources provide further information on the gene and its related conditions, as well as references to scientific articles and testing options.
Health Conditions Related to Genetic Changes
The LAMA2 gene, also known as alpha2 laminin, is involved in the production of laminins, which are proteins that play a key role in the structure and function of cells.
Genetic changes in the LAMA2 gene can lead to various health conditions and diseases. One of the main conditions related to LAMA2 gene mutations is LAMA2-related muscular dystrophy, which is a type of limb-girdle muscular dystrophy. This condition is characterized by progressive muscle weakness and wasting.
Testing for LAMA2 gene mutations can provide valuable information for diagnosing LAMA2-related muscular dystrophy and other related conditions. Genetic testing can be done to identify specific mutations in the LAMA2 gene and confirm a diagnosis.
There are several scientific resources and databases available for finding information on LAMA2-related health conditions and genetic changes. PubMed and OMIM are two commonly used resources for accessing articles and references on LAMA2-related conditions and mutations.
In addition to scientific articles and references, there are also registries and catalogs available for LAMA2-related conditions. These resources provide additional information and resources for individuals and families affected by LAMA2-related health conditions.
It’s important to note that LAMA2-related conditions can have different names and variants. LAMA2-related conditions can also be associated with other genes and subunits of laminins.
| Resource | Description |
|---|---|
| LAMA2-related Registry | A registry for individuals with LAMA2-related conditions, providing information and support. |
| OMIM | An online catalog of human genes and genetic disorders, including LAMA2-related conditions. |
| PubMed | A database of scientific articles and references, with many publications on LAMA2-related conditions. |
By utilizing these resources and conducting genetic testing, individuals and families can gain a better understanding of LAMA2-related conditions and receive appropriate care and support.
LAMA2-related muscular dystrophy
LAMA2-related muscular dystrophy is a type of muscular dystrophy caused by mutations in the LAMA2 gene. This gene encodes the alpha-2 subunit of laminins, which are proteins that help form the structure of muscles and other tissues in the body. Laminin alpha-2 is specifically found in the neuromuscular junctions, which is where nerve cells connect to muscle cells.
LAMA2-related muscular dystrophy can present with a range of symptoms, including muscle weakness and wasting, difficulty walking, and respiratory problems. The severity of the condition can vary widely, with some individuals experiencing mild weakness and others being completely wheelchair-bound.
Diagnosis of LAMA2-related muscular dystrophy typically involves genetic testing to identify mutations in the LAMA2 gene. There are several resources and databases available for this purpose, including PubMed, OMIM, and the LAMA2-related muscular dystrophy registry. These resources provide information on the specific genetic changes associated with this condition, as well as related scientific articles, testing recommendations, and additional references.
Treatment for LAMA2-related muscular dystrophy is currently limited to supportive care, including physical therapy, respiratory support, and interventions to optimize mobility and quality of life. Research into potential therapies and interventions is ongoing, and there are several clinical trials investigating new treatments for LAMA2-related muscular dystrophy.
Overall, LAMA2-related muscular dystrophy is a complex and challenging condition. The LAMA2 gene plays a crucial role in muscle development and function, and mutations in this gene can lead to a wide range of muscular dystrophy phenotypes. Understanding the genetic basis of LAMA2-related muscular dystrophy is essential for accurate diagnosis, prognosis, and the development of targeted therapies for this rare disease.
Cholangiocarcinoma
Cholangiocarcinoma, also known as bile duct cancer, is a rare form of cancer that originates in the bile ducts. The bile ducts are a network of tubes that transport bile from the liver to the small intestine.
There are several subtypes of cholangiocarcinoma, including intrahepatic, perihilar, and distal cholangiocarcinoma. The exact cause of cholangiocarcinoma is unknown, but risk factors include chronic inflammation of the bile ducts, bile duct stones, primary sclerosing cholangitis, liver fluke infections, and certain genetic conditions.
The LAMA2 gene (also known as laminin alpha-2) is not directly associated with cholangiocarcinoma. However, it is involved in other health conditions, such as congenital muscular dystrophy (also known as limb-girdle muscular dystrophy). The LAMA2 gene codes for one of the subunits of laminins, which are a group of genetic proteins that are essential for the formation of basement membranes.
For additional information on cholangiocarcinoma, related genes, and genetic tests, the following resources may be useful:
- Online Mendelian Inheritance in Man (OMIM) – a comprehensive catalog of human genes and genetic disorders. There are several articles on cholangiocarcinoma and related genes.
- The LAMA2-related muscular dystrophy registry – a database that collects information on individuals with LAMA2-related muscular dystrophy.
- PubMed – a database of scientific articles. Searching for “cholangiocarcinoma” and “LAMA2 gene” may yield relevant articles.
It is important to note that while the LAMA2 gene is not directly linked to cholangiocarcinoma, there may be genetic changes or mutations in other genes that contribute to the development of the disease.
Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies characterized by progressive weakness and wasting of the muscles in the limbs and pelvis. It is a rare genetic disorder caused by mutations in various genes, including the LAMA2 gene.
The LAMA2 gene provides instructions for making a protein called laminin alpha-2. Laminins are a family of proteins that help to form the structure of tissues and organs in the body. Mutations in the LAMA2 gene can lead to the production of a faulty laminin alpha-2 protein, which disrupts the normal functioning of muscles and causes the signs and symptoms of LGMD.
There are different types of LGMD, and each is caused by mutations in different genes. LAMA2-related muscular dystrophy, also known as MDC1A, is caused by mutations in the LAMA2 gene. This type of LGMD is usually present from birth and is characterized by severe muscle weakness and delay in motor development.
Diagnosis of LAMA2-related LGMD can be confirmed through genetic testing, which analyzes the LAMA2 gene for changes or mutations. There are also additional tests available to determine the level of laminin alpha-2 protein and its subunits in the body. These tests can help in the diagnosis and management of LAMA2-related LGMD.
There are several resources available for further information on LAMA2-related LGMD. The OMIM database provides detailed information on the genetic changes, clinical features, and other related conditions associated with LAMA2 mutations. PubMed and other scientific articles can also provide valuable information on the latest research and advancements in the field of LAMA2-related LGMD.
Support and advocacy groups, such as the Muscular Dystrophy Association, can provide information on available resources and support networks for individuals and families affected by LAMA2-related LGMD. Clinical trials and registries are also available for those interested in participating in research studies aimed at finding new treatments or therapies for LAMA2-related LGMD.
In conclusion, limb-girdle muscular dystrophy is a group of muscular dystrophies characterized by progressive weakness and wasting of the muscles in the limbs and pelvis. LAMA2-related LGMD is a specific type of LGMD caused by mutations in the LAMA2 gene. Genetic testing and other diagnostic tests can confirm the presence of LAMA2-related LGMD. Resources such as databases, scientific articles, and support groups are available for further information and support.
Other Names for This Gene
The LAMA2 gene is also known by other names, including:
- Alpha-2 laminin subunit, LAMA2-related
- Alpha2 laminin subunits, laminins alpha-2
- Laminin alpha2 subunit
- LAMA2
- Other names related to LAMA2-related conditions and diseases
These names may result from genetic testing, scientific research, or additional resources and databases. Each name listed provides information related to LAMA2 and its variants, mutations, and related health conditions. References to these names can be found in databases such as OMIM, PubMed, and other genetic resources. Testing, registries, and clinical trials may use these names to identify LAMA2-related conditions and genes.
Additional Information Resources
- The Online Mendelian Inheritance in Man (OMIM) database provides information on the genetic diseases and related genes. It contains a comprehensive list of lama2-related conditions and mutations.
- The GeneTests website offers testing information for lama2-related muscular dystrophy. This resource includes details on the testing process, available tests, and references to scientific articles.
- The Laminin Alpha-2 Registry is a registry for individuals with lama2-related muscular dystrophy. It collects information about patients and their specific genetic changes.
- The PubMed database is a valuable resource for accessing scientific articles on lama2-related diseases. It includes studies and research findings related to the alpha-2 subunits of laminins and their role in various congenital and limb-girdle conditions.
- The Genetests Catalog of Genetic Tests and Laboratories provides a comprehensive listing of labs and genetic tests available for lama2-related conditions. This resource includes information on testing methods, prices, and contact details for each lab.
- Other resources, such as scientific articles, changes and updates in the field, and other related genes, can also be found through a thorough search on PubMed.
Tests Listed in the Genetic Testing Registry
Genetic testing plays a critical role in diagnosing and understanding various diseases. The Genetic Testing Registry (GTR) catalogs the tests available for different genetic conditions, including those related to the LAMA2 gene.
The LAMA2 gene, also known as the laminin alpha-2 gene, is responsible for encoding the alpha-2 subunit of laminins. Mutations in the LAMA2 gene can result in muscular dystrophy and other related conditions.
In the GTR, there are several tests listed for LAMA2-related conditions. Each test is associated with a specific variant of the LAMA2 gene and provides information on the genetic changes associated with the condition. These tests can help in the diagnosis and management of LAMA2-related diseases.
For each test listed in the GTR, there are additional resources and references available. These include scientific articles, PubMed references, OMIM entries, and other databases. These resources provide further information on the specific test, its variants, and related genes.
Genet tests listed in the GTR for LAMA2-related conditions:
| Test Name | Condition |
|---|---|
| LAMA2 gene sequencing | LAMA2-related muscular dystrophy |
| LAMA2 gene variant analysis | LAMA2-related conditions |
These tests focus on identifying mutations and variants in the LAMA2 gene to aid in the diagnosis of LAMA2-related muscular dystrophy and related conditions.
In conclusion, the GTR provides a comprehensive catalog of tests for various genetic conditions, including LAMA2-related diseases. These tests, such as LAMA2 gene sequencing and variant analysis, help in diagnosing and understanding these conditions. The resources and references available in the GTR offer additional information on the specific tests and related genes, allowing healthcare professionals to make informed decisions.
Scientific Articles on PubMed
muscular: The LAMA2 gene, also known as laminin alpha-2, is associated with various muscular diseases. These diseases are listed on the Online Mendelian Inheritance in Man (OMIM) database, which provides information on genetic conditions and genes.
related diseases: LAMA2-related muscular dystrophy and limb-girdle muscular dystrophy type 2I are two conditions related to changes in the LAMA2 gene. Testing for variants in this gene can help in the diagnosis of these diseases.
alpha-2 subunits: Laminin alpha-2 is one of the subunits of the laminins, a family of proteins involved in cell adhesion and signaling. The LAMA2 gene provides instructions for making this subunit.
LAMA2-related registry: The LAMA2-related registry is a database that collects information from individuals with LAMA2-related muscular dystrophy. It serves as a resource for health professionals and researchers.
pubmed databases: PubMed is a database of scientific articles in the field of medicine and related disciplines. It includes articles on the LAMA2 gene and its associated diseases. These articles provide additional information and references for further research.
genetic tests: Genetic tests can be performed to detect changes in the LAMA2 gene. These tests can help in the diagnosis of LAMA2-related diseases and guide treatment decisions.
laminins: Laminins are a group of proteins that are part of the extracellular matrix. They play a crucial role in the structure and function of tissues and organs.
cholangiocarcinoma: Although primarily associated with muscular diseases, the LAMA2 gene has also been implicated in cholangiocarcinoma, a type of cancer affecting the bile ducts.
additional resources: In addition to PubMed, there are other resources available for obtaining scientific articles and information on the LAMA2 gene and related conditions. These resources can be useful for researchers, healthcare professionals, and individuals seeking more information.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive database containing information about various genes and their associated diseases. This catalog provides a valuable resource for scientists, clinicians, and researchers to access and explore information related to genetic conditions.
Genes and Conditions:
- The catalog includes information about a wide range of genes and their corresponding diseases.
- It provides details on the role of specific genes in the development and progression of various conditions.
- The catalog contains data on the LAMA2 gene, which encodes the laminin alpha-2 subunit.
LAMA2-related Congenital Muscular Dystrophy:
- One of the conditions associated with the LAMA2 gene is LAMA2-related congenital muscular dystrophy.
- This rare genetic disorder is characterized by muscle weakness and wasting, which can affect limb-girdle muscles and other muscle groups in the body.
- The catalog provides scientific articles, references, and additional resources related to this condition.
- Testing for mutations in the LAMA2 gene can be carried out to confirm a diagnosis.
- Genetic testing may include sequencing the gene to identify any changes or variants.
- Scientific literature and research studies related to LAMA2-related congenital muscular dystrophy are listed in the catalog.
OMIM and Other Databases:
- OMIM, or Online Mendelian Inheritance in Man, is a widely used database for genetic information.
- The catalog integrates data from OMIM and other databases to provide a comprehensive resource.
- It includes information on genes, diseases, conditions, and associated references.
- In addition to LAMA2, the catalog covers a wide range of other genes and diseases.
Resources and References:
- The catalog serves as a valuable resource for accessing information on genes and related diseases.
- It provides links to scientific articles, references, and additional resources for further exploration.
- Health professionals and researchers can utilize the catalog to gather information about specific genes, diseases, and associated conditions.
- The catalog also lists resources for genetic testing and diagnostic procedures.
In conclusion, the Catalog of Genes and Diseases from OMIM is a comprehensive database that provides valuable information about various genes, diseases, and associated conditions. It serves as a valuable resource for scientific research, clinical practice, and genetic testing.
Gene and Variant Databases
There are several databases and resources available that provide information on genes and variants related to the LAMA2 gene. These databases can be used to find articles, health information, and genetic testing resources for laminins.
One of the main databases for gene and variant information is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information on a wide range of genetic conditions, including limb-girdle muscular dystrophy and other related diseases. The database includes information on the LAMA2 gene and its associated conditions, as well as references to scientific articles and additional resources.
Another valuable resource is the LAMA2 Variants Catalog, which is a registry of LAMA2-related gene changes. This catalog provides information on the specific genetic changes observed in individuals with LAMA2-related diseases, along with the associated clinical features. The catalog also includes references to published articles and other relevant resources.
Additionally, the PubMed database can be used to search for scientific articles on the LAMA2 gene and its variants. PubMed is a widely-used database that indexes articles from a variety of scientific journals. Searching for keywords such as “LAMA2 gene” or “Laminin alpha-2” can provide access to relevant articles and research studies.
Other databases and resources may also provide information on the LAMA2 gene and its variants. They can include genetic testing databases, such as those offered by commercial laboratories or research institutions. These databases may offer testing services specifically for LAMA2-related diseases or include information on LAMA2 variants in broader panels of genetic tests.
Conclusion
The LAMA2 gene and its associated variants play a crucial role in several congenital muscular dystrophies. Gene and variant databases, such as OMIM and the LAMA2 Variants Catalog, provide valuable information and resources for researchers, healthcare professionals, and individuals seeking information on LAMA2-related conditions. Additionally, databases like PubMed allow access to scientific articles and research studies related to the LAMA2 gene and its variants.
It is essential to consult these databases and resources to stay updated on the latest research and advancements in the field of LAMA2-related diseases. The information provided can aid in the diagnosis, management, and treatment of these conditions.
References
- OMIM Catalog of Human Genes and Genetic Disorders. LAMA2 gene. [Online]. Available: https://omim.org/
- PubMed. LAMA2-related congenital muscular dystrophy. [Online]. Available: https://pubmed.ncbi.nlm.nih.gov/?term=LAMA2%20gene
- Genet Tests. LAMA2-related muscular dystrophy. [Online]. Available: https://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/4469?db=genetests#tests-by-disease-panel
- Laminins, alpha 2. [Online]. Available: https://www.ncbi.nlm.nih.gov/gene/3909/
- Catalog of Genes and Diseases. Laminin, alpha 2. [Online]. Available: https://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/200607?db=genetests
- The Human Protein Atlas. LAMA2. [Online]. Available: https://www.proteinatlas.org/ENSG00000157112-LAMA2/tissue
Additional scientific articles and resources related to the LAMA2 gene and associated conditions can be found in the references listed in the above-mentioned databases and resources.