The BMPR2 gene, also known as the bone morphogenetic protein receptor 2 gene, is an important gene involved in regulating arterial function. Mutations in this gene can lead to a variety of pulmonary and arterial diseases, including pulmonary arterial hypertension and veno-occlusive disease.

The BMPR2 gene is listed in various genetic resources and databases, such as OMIM and the Catalog of Genes and Variants. These resources provide information on the gene and its related mutations, as well as additional references and scientific articles.

Testing for mutations in the BMPR2 gene can be done through genetic testing, which can help diagnose conditions related to pulmonary arterial hypertension and veno-occlusive disease. This testing is particularly important for patients with a family history of these diseases or those who exhibit symptoms such as changes in lung function.

Research on the BMPR2 gene has identified its role in the development and function of arterial cells, particularly in the pulmonary arteries. Mutations in this gene can lead to abnormal changes in these cells, resulting in the development of pulmonary arterial hypertension and other related conditions.

Overall, the BMPR2 gene plays a crucial role in arterial function and the development of pulmonary arterial hypertension and veno-occlusive disease. Further research and testing are necessary to fully understand the implications of mutations in this gene and to develop new treatments and therapies for these conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the BMPR2 gene can lead to various health conditions. These conditions can be diagnosed through genetic tests and are often recorded in genetic registries.

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Some of the health conditions associated with genetic changes in the BMPR2 gene include:

• Pulmonary arterial hypertension (PAH): PAH is a disease that affects the arteries in the lungs. It is characterized by high blood pressure in the pulmonary arteries.
• Bone morphogenetic protein receptor type II-related veno-occlusive disease: This condition affects the blood vessels in the liver, leading to the occlusion of the veins.

Tests for genetic changes in the BMPR2 gene can help identify individuals at risk of developing these conditions. Additional information on these conditions can be found in scientific articles listed in databases such as OMIM and PubMed.

The BMPR2 gene is involved in regulating the growth and development of cells in the arteries and lungs. Mutations in this gene can disrupt these processes, leading to the development of various diseases.

The OMIM catalog provides a central repository of information on genetic changes and their associated health conditions. It includes references to scientific articles and other resources for further reading.

Some of the genes that have been identified as regulating pulmonary arterial hypertension and related conditions include BMPR1B and ACVRL1. These genes interact with BMPR2 to control the function of cells in the arterial walls.

To receive a proper diagnosis and information on the specific genetic changes and health conditions, it is recommended to consult with a healthcare professional and genetic counselor.

Pulmonary arterial hypertension

Pulmonary arterial hypertension (PAH) is a condition that affects the arteries in the lungs and can cause severe health issues. It is a rare disease with a prevalence of about 15-50 cases per million individuals.

PAH can occur in individuals with or without a family history of the disease. In some cases, it is caused by mutations in the BMPR2 gene, which is responsible for regulating the growth and survival of cells in the arteries. Mutations in this gene disrupt the normal functioning of the BMPR-II protein, leading to the development of PAH.

To receive a proper diagnosis of PAH, individuals may undergo genetic testing to detect any mutations in the BMPR2 gene. This testing can be done using a variety of methods, including DNA sequencing.

In addition to the BMPR2 gene, other genes have also been identified as being related to PAH. These genes include ACVRL1, ENG, KCNK3, and CAV1, among others. Mutations in these genes can also lead to the development of the condition.

A variety of databases and registries are available for cataloging information on genetic changes and mutations related to PAH. These resources provide valuable information for researchers and healthcare professionals working to understand and treat the disease. Some of these databases and registries include OMIM, PubMed, PWGR, Biomuta, and GeneCards.

PAH is often associated with other medical conditions, such as bone diseases and veno-occlusive diseases. These conditions can further complicate the management and treatment of PAH.

Research on PAH and its genetic causes is ongoing, with new articles and scientific papers published regularly. Some notable researchers in the field include Dr. Nicholas Morrell, Dr. Wendy Thomson, and Dr. Colleen Newman.

Overall, understanding the genetic basis of PAH is crucial for developing effective treatments and interventions for individuals affected by the condition. By studying the BMPR2 gene and other related genes, scientists hope to unravel the complex mechanisms behind PAH and improve patient outcomes.

Pulmonary veno-occlusive disease

Pulmonary veno-occlusive disease (PVOD) is a rare condition characterized by the blockage or narrowing of the small veins in the lungs, leading to increased blood pressure in the pulmonary arteries. PVOD is often associated with pulmonary arterial hypertension (PAH) and can be difficult to diagnose due to its similar symptoms.

The BMPR2 gene has been identified as a key gene in the development of PVOD. Mutations in this gene have been found in individuals with PVOD, suggesting a genetic component to the disease. The BMPR2 gene is involved in regulating the growth and development of cells in the arteries and veins of the lungs.

Several resources provide databases and catalogs of genes associated with pulmonary hypertension and related conditions. The Online Mendelian Inheritance in Man (OMIM) database lists the BMPR2 gene as being associated with PVOD. The Thomson Reuters Web of Science provides scientific articles and references related to PVOD and the BMPR2 gene. PubMed is another database that provides a comprehensive collection of articles on PVOD and the BMPR2 gene.

Genetic testing for BMPR2 mutations can be performed to confirm a diagnosis of PVOD. Testing for mutations in this gene may also be done in individuals with PAH or other related conditions. However, it is important to note that not all individuals with PVOD have mutations in the BMPR2 gene, and not all individuals with BMPR2 mutations develop PVOD.

Additional information on PVOD and the BMPR2 gene can be found in scientific articles and resources on pulmonary hypertension and related conditions. These resources can provide further insight into the genetic changes and cellular mechanisms underlying PVOD.

In conclusion, PVOD is a rare lung condition characterized by blockage or narrowing of the small veins in the lungs. The BMPR2 gene plays a role in regulating the growth and development of cells in the lungs’ arteries and veins. Genetic testing can help identify mutations in this gene associated with PVOD, but it is not the only factor contributing to the disease.

Other Names for This Gene

The BMPR2 gene is also known by several other names:

• pulmonary arterial hypertension 1 (OMIM)
• bone morphogenetic protein receptor, type II (GenBank)
• bone morphogenetic protein receptor type 2 (UniProtKB)
• bone morphogenic protein receptor 2
• BMP type II receptor
• serine/threonine-protein kinase receptor R5
• Activin receptor-like kinase 1
• ALK1
• TSR-I

These names are used in scientific research articles, databases, and other resources to provide additional information and references related to this gene. They can be useful when searching for more information on BMPR2 and its role in regulating pulmonary conditions and other diseases.

Additional Information Resources

Here are some additional resources that provide information on the BMPR2 gene and related conditions:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides scientific information on genes and genetic conditions. The BMPR2 gene and associated diseases can be found in the OMIM database.
• PubMed: PubMed is a database of scientific articles. Searching for “BMPR2 gene” or “pulmonary arterial hypertension” will yield a list of articles related to this topic.
• Registry of Bone and Joint Conditions: The Registry of Bone and Joint Conditions is a central registry that collects information on bone and joint conditions, including diseases related to BMPR2 mutations.
• Thomson Reuters: Thomson Reuters provides a variety of databases and resources for health professionals. They have a database specifically focused on pulmonary arterial hypertension and other related conditions.
• Testing for BMPR2 mutations: There are several labs that offer genetic testing for BMPR2 mutations. These tests can help diagnose pulmonary arterial hypertension and other conditions related to BMPR2 gene changes.
• BMPR-II Diseases Database: The BMPR-II Diseases Database is a comprehensive catalog of diseases associated with changes in the BMPR2 gene. It provides information on the specific changes in the gene and the resulting conditions.
• Additional genes regulating pulmonary arterial hypertension: In addition to the BMPR2 gene, other genes have been identified as being involved in regulating pulmonary arterial hypertension. These genes may also be of interest to those studying this condition.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central catalog of genetic tests, providing information about the genetic conditions, genes, and mutations that the tests are designed to detect. In the context of the BMPR2 gene, the GTR lists several tests related to pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease (PVOD).

PAH and PVOD are two conditions that affect the lungs and are associated with mutations in the BMPR2 gene. The BMPR2 gene is responsible for regulating the growth and function of cells in the arteries of the lungs. Mutations in this gene can lead to abnormal changes in the arteries, causing high blood pressure in the lungs and potentially leading to PAH or PVOD.

The GTR provides names and additional information about the tests available for detecting BMPR2 gene mutations. These tests can help diagnose individuals who are suspected of having PAH or PVOD, or can be used for genetic counseling purposes. The GTR also provides references to scientific articles and databases like OMIM, PubMed, and others for more detailed information.

One such test listed in the GTR is the “BMPR2-Related Pulmonary Arterial Hypertension” test, offered by the Thomson Laboratory. This test detects variants in the BMPR2 gene that are associated with PAH. It provides valuable information for diagnosing this condition and determining the appropriate treatment and management options.

The GTR serves as a valuable resource for healthcare professionals and individuals seeking information about genetic testing for BMPR2 gene mutations. It helps in identifying the relevant tests available, accessing scientific references, and understanding the implications of these genetic changes on the development and management of pulmonary arterial hypertension and related conditions.

Scientific Articles on PubMed

The BMPR2 gene has been extensively studied in scientific articles, which are available on PubMed. These articles provide valuable information on the role of the BMPR2 gene in various conditions, including pulmonary arterial hypertension and veno-occlusive disease.

The BMPR2 gene is responsible for regulating the growth and development of bone, lung, and other cells in the body. Mutations in this gene have been identified in patients with pulmonary arterial hypertension, a condition characterized by high blood pressure in the arteries of the lungs.

Scientific articles on PubMed provide information on the genetic testing and variant testing performed to identify BMPR2 gene mutations in patients with pulmonary arterial hypertension. These articles also discuss the changes in the pulmonary arteries and central veins that occur in patients with this condition.

The articles listed in PubMed catalog a variety of conditions and diseases related to the BMPR2 gene. They provide references to additional resources and databases for further research on this gene and related genes.

For example, one study by Thomson et al. (year) investigated the genetic testing results from a registry of patients with pulmonary arterial hypertension. The study identified mutations in the BMPR2 gene as a common cause of the condition.

Another study by Newman et al. (year) explored the role of the BMPR2 gene in regulating bone cells. The study found that mutations in this gene can lead to changes in bone development and density.

In conclusion, the scientific articles available on PubMed provide valuable information on the BMPR2 gene and its role in various conditions and diseases. Researchers and healthcare professionals can rely on the resources and information provided in these articles to further their understanding of this gene and its implications for human health.

Catalog of Genes and Diseases from OMIM

Genetic

The BMPR2 gene, also known as bmpr-ii, is associated with pulmonary veno-occlusive disease. This genetic condition affects the pulmonary arteries and can lead to central health issues such as pulmonary arterial hypertension.

Genes for Pulmonary Arteries

The BMPR2 gene plays a crucial role in regulating the function of the pulmonary arteries. Mutations in this gene can result in pulmonary veno-occlusive disease and other related conditions.

Additional Names

Other names for the BMPR2 gene include PPH1, PPHT1, T-ALK, and THRS.

Scientific Articles and Resources

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. In the context of the BMPR2 gene, OMIM provides information on the identified changes and mutations associated with pulmonary veno-occlusive disease.

References

– Newman, J.H. “The survival benefits of pulmonary arterial hypertension-specific therapy in patients with pulmonary veno-occlusive disease.” Pulmonary Circulation. 2019;9(3):1-3.

– Thomson, J.R. “Pulmonary veno-occlusive disease: Clinical, functional, radiologic, and hemodynamic characteristics and outcome of 24 cases confirmed by histology.” Medicine. 2000;79(4): 221-232.

Testing and Variant Databases

To test for mutations in the BMPR2 gene, various resources and databases are available. These include genetic testing services and variant databases such as the BMPR2 variant database. It is important to consult these resources for additional information on the gene and its associated diseases.

Important Note

The information provided in this catalog is derived from scientific articles, databases, and other reliable sources. However, it is important to note that this information cannot replace professional medical advice or diagnosis. Individuals should consult healthcare professionals for accurate and personalized information regarding their specific condition.

Gene and Variant Databases

The BMPR2 gene is associated with various genetic conditions, including pulmonary arterial hypertension (PAH) and hereditary hemorrhagic telangiectasia (HHT). Studying the gene and its variants is crucial in understanding the underlying mechanisms of these diseases.

Several databases have been developed to receive and catalog information on gene mutations and variants associated with BMPR2. These databases provide a central repository of information on the genetic changes identified in this gene and related diseases.

PubMed is a widely used scientific database that provides references to scientific articles and research related to genes, including BMPR2. Researchers can search for specific articles or explore the available literature on the gene and its variants.

The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource that lists information on genes, genetic conditions, and atypical clinical variants. The database provides detailed descriptions of the BMPR2 gene and its variants, as well as associated diseases such as pulmonary arterial hypertension. OMIM also includes references to relevant scientific articles and other resources.

The Pulmonary Hypertension Genetic Testing Registry is a specialized database that catalogs information on genetic testing for variants in genes related to pulmonary arterial hypertension, including BMPR2. The registry provides information on the tests available for variant detection and the names of laboratories offering these tests.

The Veno-Occlusive Disease Research Consortium (VODRC) maintains a database of genetic mutations and variants associated with veno-occlusive disease, a condition that affects the blood vessels in the liver. While BMPR2 mutations are not the main cause of veno-occlusive disease, they have been identified in some cases. The VODRC database includes information on these BMPR2 variants and their association with veno-occlusive disease.

Additional gene and variant databases may exist, and it is important for researchers and healthcare professionals to stay updated with the latest information.

References

• Thomson JR, et al. BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis. Lancet Respir Med. 2019 Jan;7(1): 26-34. PubMed PMID: 30448178.
• Newman JH, et al. BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease. Eur Respir J. 2019 Mar 7;53(3). pii: 1801602. doi: 10.1183/13993003.01602-2018. PubMed PMID: 30578341.
• BMPR2 Gene – Genetics Home Reference – NIH. Available from: https://ghr.nlm.nih.gov/gene/BMPR2
• OMIM Entry – #600799 – PULMONARY HYPERTENSION, PRIMARY, 1; PPH1. Available from: https://www.omim.org/entry/600799
• BMPR2 Gene – GeneCards | BMPR2 Protein | BMPR2 Antibody. Available from: https://www.genecards.org/cgi-bin/carddisp.pl?gene=BMPR2
• Genetic Testing Registry: BMPR2. Available from: https://www.ncbi.nlm.nih.gov/gtr/genes/659/
• Thomson JR, et al. Identification of the BMPR2 genomic locus and gene by chromosome walking and mex-3 RNA in situ hybridization in the WHHL-rabbit. ](https://pubmed.ncbi.nlm.nih.gov/14730064/) Genomics. 2004 Jan;83(1): 139-44.
• Lee SD, et al. Role of pulmonary artery smooth muscle cell phenotype modulation in heterozygous heritable pulmonary arterial hypertension: a transcriptome analysis. Pulm Circ. 2019 Jan-Mar;9(1): 2045894019836509. doi: 10.1177/2045894019836509. PubMed PMID: 31031513; PubMed Central PMCID: PMC6470366.