The BMPR1A gene, also known as bone morphogenetic protein receptor type 1A, is a gene that plays a crucial role in the health and development of individuals. Mutations in the BMPR1A gene have been found to be associated with a variety of conditions, including juvenile polyposis syndrome.
The BMPR1A gene codes for a kinase receptor protein that is responsible for transmitting signals from the outside of the cell to the nucleus. These signals are important for regulating the growth and development of cells, and any changes or mutations in the BMPR1A gene can disrupt this process.
Information about the BMPR1A gene and its related diseases can be found in various databases and resources, such as OMIM, PubMed, and genetic testing registries. In addition, scientific articles and references on the BMPR1A gene and related genes are available for further information and research.
Genetic testing for mutations in the BMPR1A gene can be used to diagnose individuals with conditions related to this gene. These tests can help in understanding the underlying cause of diseases and provide additional information for treatment and management.
In conclusion, the BMPR1A gene is a complex gene that plays a significant role in the development and health of individuals. Understanding the genetic changes and mutations associated with this gene is crucial for diagnosing and managing related conditions. Various resources, databases, and genetic testing can provide valuable information for further research and treatment of individuals with BMPR1A gene-related diseases.
Health Conditions Related to Genetic Changes
Genetic changes in the BMPR1A gene can lead to various health conditions. The BMPR1A gene provides instructions for making a protein called bone morphogenetic protein receptor type IA (BMPR1A). This protein is part of a complex signaling pathway that plays a role in the development and maintenance of various tissues and organs in the body.
Changes in the BMPR1A gene can result in a variant form of the BMPR1A protein, leading to functional alterations and potential health issues. Some health conditions associated with genetic changes in BMPR1A include:
- Juvenile polyposis syndrome: This condition is characterized by the development of multiple polyps in the gastrointestinal tract, particularly in the colon and rectum.
- Hereditary mixed polyposis syndrome: This syndrome is characterized by a mix of juvenile polyps and other types of polyps in the colon and rectum.
- Hereditary nonpolyposis colorectal cancer (HNPCC): Also known as Lynch syndrome, this condition increases the risk of developing colorectal cancer and other types of cancer, including endometrial, ovarian, and gastric cancers.
Genetic changes in the BMPR1A gene can be detected through genetic testing. Various tests are available to identify specific mutations or variants in the gene. Centralized health resources, such as the Online Mendelian Inheritance in Man (OMIM) and scientific databases like PubMed, provide information on the BMPR1A gene and related health conditions. These resources also list articles, references, and other related information for additional exploration.
The BMPR1A gene belongs to a larger catalog of genes associated with bone morphogenetic proteins and their receptors. These proteins play crucial roles in various biological processes, including embryonic development, tissue repair, and bone formation. Dysfunction in these genes can contribute to the development of related health conditions.
In summary, genetic changes in the BMPR1A gene can lead to health conditions such as juvenile polyposis syndrome, hereditary mixed polyposis syndrome, and hereditary nonpolyposis colorectal cancer. Testing for mutations or variants in BMPR1A can be conducted through various genetic tests. Centralized health resources and scientific databases provide additional information on the gene, related conditions, and potential treatments.
Juvenile polyposis syndrome
Juvenile polyposis syndrome is a genetic disorder related to mutations in the BMPR1A gene. BMPR1A, also known as bone morphogenetic protein receptor type 1A, is a receptor kinase protein involved in the bone morphogenetic protein (BMP) signaling pathway.
In juvenile polyposis syndrome, individuals develop multiple polyps in their gastrointestinal tract, usually starting in childhood or adolescence. These polyps are benign, but they can cause symptoms such as bleeding, diarrhea, and abdominal pain. Juvenile polyposis syndrome is also associated with an increased risk of developing colorectal cancer.
Genetic testing for mutations in the BMPR1A gene is available to confirm a diagnosis of juvenile polyposis syndrome. This testing can be done using a variety of methods, including sequencing the protein-coding regions of the gene, analyzing the gene’s structure, or testing for specific variants known to be associated with the syndrome.
Additional information on juvenile polyposis syndrome, including related genes and proteins, can be found in various databases and resources. The Online Mendelian Inheritance in Man (OMIM) catalog, for example, provides comprehensive information on the genetics, clinical features, and references for related diseases and conditions.
The Centralized Information Registry for Genetic/Genomic Testing (CIR-GENETEST) is another resource that provides information on genetic testing for juvenile polyposis syndrome and other related genetic disorders. This registry catalogs laboratories that offer testing for specific genes and provides information on the availability, transport, and costs of these tests.
Other resources, such as PubMed and scientific literature, may also contain additional references and information on juvenile polyposis syndrome and related conditions.
In summary, juvenile polyposis syndrome is a genetic disorder caused by mutations in the BMPR1A gene. It is characterized by the development of multiple polyps in the gastrointestinal tract and an increased risk of colorectal cancer. Genetic testing is available to confirm a diagnosis, and there are various resources and databases that provide information on related genes, proteins, and testing options.
Other Names for This Gene
The BMPR1A gene is also known by other names:
- Juvenile polyposis of infancy
- BMP receptor type-1A
- Bone morphogenetic protein receptor type-1A
- BMPR1A receptor tyrosine kinase
These names are used to refer to the same gene and are often used interchangeably in scientific articles and resources related to health conditions caused by mutations in this gene.
Information about this gene can be found in various resources such as the OMIM database, which provides information about genes, genetic diseases, and their related proteins. The OMIM database lists the BMPR1A gene as a central topic for testing and provides additional information about the various conditions associated with mutations in this gene. The registry of genetic tests, as well as other databases, can also provide information on testing options for variants of this gene.
References to scientific articles and other resources related to this gene can be found in databases such as PubMed. These resources contain information on the function of BMPR1A and its role in complex diseases, as well as related genes and proteins.
Additional Information Resources
There are several other resources available for further information on the BMPR1A gene and related conditions:
- OMIM: The Online Mendelian Inheritance in Man database provides a comprehensive listing of information on genetic diseases and gene mutations. The entry for the BMPR1A gene can be found under OMIM ID 601299.
- PubMed: The PubMed database contains scientific articles and research papers related to the BMPR1A gene and its role in various conditions. Searching for “BMPR1A gene” will yield a list of relevant articles.
- Genetic Testing Registry: This database provides information on available genetic tests for the BMPR1A gene and related conditions. It includes details on the specific tests, laboratories offering them, and their clinical validity.
- GeneReviews: GeneReviews is a comprehensive resource that provides expert-authored, peer-reviewed, and up-to-date information on genetic conditions. The entry for the BMPR1A gene provides a summary of associated conditions, testing options, and management recommendations.
- ClinVar: ClinVar is a freely accessible database that provides information about the relationships between genetic variations and diseases. The BMPR1A gene is listed in ClinVar, and it includes data on variant names, clinical significance, and related conditions.
Additionally, there are various other scientific databases, such as the National Center for Biotechnology Information (NCBI) and the European Molecular Biology Laboratory (EMBL), where more information on the BMPR1A gene and related conditions can be found. These databases often contain information on the protein structure, interactions with other proteins, and cellular localization.
Tests Listed in the Genetic Testing Registry
Genetic testing can be conducted to identify changes or mutations in the BMPR1A gene. These tests are particularly relevant for individuals with a family history of polyposis or other genetic conditions related to the BMPR1A gene. The BMPR1A gene is responsible for encoding a receptor protein involved in bone morphogenetic protein signaling pathways. Variants or mutations in this gene can lead to various bone-related conditions and syndromes.
The Genetic Testing Registry provides information on tests available for the BMPR1A gene. These tests are designed to identify specific changes or mutations in the gene that may be associated with certain diseases or conditions. The registry catalogs information from scientific articles, databases such as OMIM and PubMed, and other resources to provide a comprehensive list of tests available for genes related to health.
Testing for the BMPR1A gene can help diagnose conditions such as juvenile polyposis syndrome and other bone-related syndromes. The tests listed in the registry provide information on the specific changes or mutations that they can detect, as well as additional resources and references for further information.
It is important to note that genetic testing for the BMPR1A gene should be conducted by qualified healthcare professionals. The results of these tests can provide valuable information for diagnosis and treatment decisions.
Scientific Articles on PubMed
The BMPR1A gene is associated with various genetic conditions and diseases related to bone and health. It is particularly implicated in hereditary mixed polyposis syndrome (HMPS), a condition characterized by multiple adenomatous polyps in the colon and an increased risk of colorectal cancer.
Several tests and resources are available for the study of the BMPR1A gene and its variants. The BMPR1A gene is listed in various genetic databases and registries, including OMIM and the Catalog of Human Genes and Genetic Disorders. These resources provide valuable information on the genetic changes and mutations associated with this gene.
The protein encoded by the BMPR1A gene is a receptor kinase that plays a central role in the BMP signaling pathway. Mutations in this gene have been found to disrupt normal signaling and lead to various conditions and diseases, including juvenile polyposis syndrome.
Scientific articles on PubMed provide additional information on the BMPR1A gene and its related genes. These articles cover a wide range of topics, from the structure and function of the BMPR1A protein to the testing methods and clinical implications of BMPR1A genetic changes.
Testing for BMPR1A gene mutations and related genes is available in specialized laboratories. These tests can help diagnose genetic conditions associated with BMPR1A and guide clinical management and treatment decisions.
It is important to stay updated with the latest scientific research and findings on the BMPR1A gene. PubMed is a valuable resource for accessing scientific articles on this topic, as well as other related genes and conditions.
In conclusion, the BMPR1A gene and its associated proteins play a crucial role in various genetic conditions and diseases. Scientific articles on PubMed provide a wealth of information on this gene, its variants, and their clinical implications. Staying informed on the latest research can help improve genetic testing and management of related conditions.
Catalog of Genes and Diseases from OMIM
The Online Mendelian Inheritance in Man (OMIM) is a recognized source for comprehensive information on genes and genetic diseases. It provides a catalog of genes and their associated diseases, including the BMPR1A gene.
The BMPR1A gene is a receptor for bone morphogenetic proteins, which play a crucial role in bone and cartilage development. Mutations in this gene have been linked to a condition called Juvenile Polyposis Syndrome, which is characterized by the development of multiple polyps in the gastrointestinal tract.
OMIM lists the BMPR1A gene and its associated diseases along with their related information. This includes the names of the conditions, the genetic changes responsible for them, and references to scientific articles and other resources.
For individuals with suspected Juvenile Polyposis Syndrome, genetic testing is available to identify mutations in the BMPR1A gene. OMIM provides information on the tests available and their associated costs and methodologies.
In addition to the BMPR1A gene, OMIM contains a comprehensive catalog of genes and diseases. Users can search for specific genes, diseases, or conditions and access information on genetic changes, health implications, testing resources, and available treatments.
OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic diseases. It provides a centralized platform for accessing up-to-date information on genes and their associated diseases, allowing for better understanding and management of these conditions.
References:
- BMPR1A gene – OMIM entry
- Juvenile Polyposis Syndrome – OMIM entry
- Genetic Testing for Juvenile Polyposis Syndrome – OMIM entry
- Additional articles on BMPR1A gene and related conditions – PubMed database
For more information, please visit the OMIM website at https://omim.org.
Gene and Variant Databases
Proteins are encoded by genes, and each gene has a specific name. In the case of the BMPR1A gene, it is also known by other names. Some of the names for the BMPR1A gene include bone morphogenetic protein receptor type 1A and activin receptor-like kinase 3.
There are several databases that provide valuable information on genes and their variants. These databases serve as valuable resources for research, diagnostic testing, and clinical care. They compile information on genes and their associated diseases, variants, and references to scientific articles.
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on human genes and genetic conditions. It includes information on the BMPR1A gene and related conditions such as juvenile polyposis syndrome.
- GeneTests: GeneTests is a centralized resource for genetic testing information. It provides detailed information on genetic tests that are available for the BMPR1A gene, including the specific tests offered by different laboratories.
- Genetic Testing Registry (GTR): GTR is a registry of genetic tests offered by various laboratories. It lists the available tests for the BMPR1A gene, including information on the types of tests and the laboratories that perform them.
- PUBMED: PUBMED is a database of scientific articles. It contains a vast collection of articles related to the BMPR1A gene and its associated diseases. Researchers and healthcare professionals can find additional information and references for further studies.
In addition to these databases, there are other resources available for obtaining information on various aspects of the BMPR1A gene and its variants. These resources include scientific articles, textbooks, and specialized websites dedicated to specific diseases or conditions associated with the BMPR1A gene.
Testing for variants in the BMPR1A gene can help diagnose certain genetic conditions. Variants, also called mutations or changes, in the BMPR1A gene can lead to the development of conditions such as juvenile polyposis syndrome. Genetic testing can identify these variants and provide important information for disease management and genetic counseling.
It is important to note that the BMPR1A gene is a part of a larger complex called the bone morphogenetic protein receptor complex. The receptor complex is formed by the BMPR1A gene together with other related genes. These genes work together to form a functional receptor complex in the cell membrane, where they receive signals from BMP ligands and transmit them to the nucleus to regulate gene expression.
Overall, the gene and variant databases mentioned here provide valuable information for researchers, healthcare professionals, and individuals interested in genetic health. They serve as important resources for understanding the BMPR1A gene and its role in various diseases and conditions.
References
- NAMES: BMPR1A gene
- BONE: Bone Morphogenetic Protein Receptor Type 1A
- REGISTRY: OMIM – Online Mendelian Inheritance in Man
- ARTICLES: PubMed – a database of biomedical literature
- HEALTH CATALOG: OMIM – Online Mendelian Inheritance in Man
Polyposis
- OMIM: OMIM – Online Mendelian Inheritance in Man (BMPR1A gene)
- THIS TESTING: Genetic tests for the BMPR1A gene
- AND GENES: Other genes and proteins related to polyposis
- CONDITIONS: Conditions related to BMPR1A gene mutations
Central
- KINASE-RELATED DISEASES: Conditions related to kinase-related diseases
- COMPLEX PROTEIN: BMPR1A gene as a complex protein
- RESOURCES: Databases and resources for BMPR1A gene and related information
Receptor
- SYNDROME: Juvenile Polyposis Syndrome
- DATABASES: Databases with information on BMPR1A gene
- REFERENCES: Listed references for BMPR1A gene
Additional
- TRANSPORTED CHANGES: Transported changes in BMPR1A gene
- VARIANT: BMPR1A gene variant
- FROM: Bone to nucleus: BMPR1A gene
BMPR1A
- PUBMED: PubMed articles on BMPR1A gene
- TESTS: Genetic tests for BMPR1A gene mutations
- GENETIC: Genetic changes in the BMPR1A gene
- MUTATIONS: BMPR1A gene mutations
Related Information
- This: Information on the BMPR1A gene and related conditions
- AND GENES: Other genes and proteins related to BMPR1A gene
- TO: Tests for other genes related to BMPR1A gene
- CONDITIONS: Conditions related to BMPR1A gene mutations