Pulmonary veno-occlusive disease (PVOD) is a rare and life-threatening condition that affects the blood vessels in the lungs. It is caused by the narrowing and blockage of the small veins that carry oxygenated blood from the lungs back to the heart.
Patients with PVOD experience an increase in blood pressure in the lungs, which can lead to shortness of breath, fatigue, and exercise intolerance. It can also result in the enlargement of the right side of the heart and, in severe cases, heart failure.
PVOD is classified as a primary or idiopathic pulmonary veno-occlusive disease because it occurs without a known underlying cause. However, in some cases, it can also be associated with other diseases or conditions. The exact causes of PVOD are still not well understood, but scientific research suggests that genetic factors may play a role.
There is no cure for PVOD, and treatment focuses on managing symptoms and improving quality of life. This can include medications to reduce blood pressure in the lungs, supplemental oxygen therapy, and in severe cases, lung transplantation.
Because PVOD is a rare disease, there is limited information available about its frequency and inheritance patterns. However, research studies and case reports provide additional insights into the condition. ClinicalTrial.gov and PubMed are valuable resources for accessing scientific articles and studies on PVOD. The Online Mendelian Inheritance in Man (OMIM) catalog also provides genetic information and references about associated genes.
Patients and their families can find support and advocacy resources through patient organizations, such as the Pulmonary Veno-Occlusive Disease (PVOD) Support and Advocacy Center. This center provides information about the disease, treatment options, and ongoing research. They also offer support groups, educational materials, and assistance with finding specialized care centers.
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Frequency
Pulmonary veno-occlusive disease (PVOD) is a rare condition characterized by obstruction of the small veins in the lungs. The exact frequency of PVOD is difficult to determine because it is a rare disease, but it is estimated to affect less than 1 in 1 million individuals.
PVOD can occur at any age, but it is most commonly diagnosed in young adults. It is slightly more common in women than in men. PVOD is often misdiagnosed as other lung diseases, such as idiopathic pulmonary arterial hypertension (IPAH), because the symptoms and imaging findings can be similar.
Genetic studies have identified several genes associated with PVOD. Mutations in these genes can cause abnormalities in the proteins involved in maintaining the integrity of the pulmonary veins. In some cases, PVOD can be inherited in an autosomal recessive manner, meaning that both copies of a specific gene must be mutated to develop the condition.
Additional research is needed to fully understand the causes of PVOD. The exact mechanisms that lead to the development of PVOD are not well understood, but it is believed to be triggered by a combination of genetic and environmental factors.
There is currently no cure for PVOD, but treatment focuses on managing symptoms and improving quality of life. Oxygen therapy and medications to reduce pulmonary artery pressure may be prescribed to help relieve symptoms. In severe cases, lung transplantation may be necessary.
PVOD can have a significant impact on a patient’s life, as it can cause severe difficulty breathing and limited exercise tolerance. It is important for patients with PVOD to receive appropriate medical care and support. There are several resources available for patients and families affected by PVOD, including advocacy groups, research articles, and clinical trials. PubMed, OMIM, and clinicaltrialsgov are valuable sources of information on PVOD and related diseases.
In conclusion, PVOD is a rare disease with a frequency of less than 1 in 1 million individuals. It is associated with genetic mutations in several genes involved in maintaining the integrity of the pulmonary veins. Additional research is needed to fully understand the causes and mechanisms of PVOD. Treatment focuses on managing symptoms and improving quality of life. Patients and families affected by PVOD can find support and information through various resources.
Causes
- Pulmonary veno-occlusive disease (PVOD) is a rare condition that is associated with high blood pressure in the veins of the lungs.
- PVOD can be caused by genetic mutations in certain genes that are involved in the formation and function of the pulmonary veins.
- It can also be caused by other diseases or conditions, such as pulmonary hypertension or idiopathic pulmonary fibrosis.
- In PVOD, the walls of the pulmonary veins become thick and narrow, making it difficult for blood to flow through them.
- This can lead to an increase in pressure in the pulmonary veins, which can cause blood to back up into the lungs.
- When the veins become occluded, the oxygenated blood cannot be properly transported from the lungs to the heart.
- As a result, the body does not receive enough oxygen, leading to symptoms such as shortness of breath, fatigue, and dizziness.
- The specific genes and proteins involved in causing PVOD are still being researched.
- However, studies have identified several genes that may play a role in the development of the disease.
- These genes include those involved in the development and maintenance of the lymph nodes, which are part of the lymphatic system.
- Additional research is needed to fully understand the genetic causes of PVOD.
For more information about the causes of pulmonary veno-occlusive disease, you can visit the following resources:
- The Pulmonary Veno-Occlusive Disease Genetic Testing Research Catalog – Provides information on genes and genetic testing for PVOD.
- The OMIM database – Offers scientific information on the genes and inheritance of PVOD.
- The PVOD Patient Support Center – Provides information on PVOD, resources for patient care, and advocacy.
- ClinicalTrials.gov – Lists clinical studies and trials related to PVOD research.
- PubMed – Offers a collection of scientific articles on PVOD and related diseases.
- The Pulmonary Hypertension Association – Provides resources and support for patients with PVOD and other pulmonary hypertension diseases.
Learn more about PVOD and the latest research on the causes and treatment options by visiting these resources.
Learn more about the genes associated with Pulmonary veno-occlusive disease
Pulmonary veno-occlusive disease (PVOD) is a rare condition characterized by elevated pulmonary venous pressure caused by obstruction of the small pulmonary veins. This leads to increased resistance to blood flow in the lungs, resulting in hypoxemia and pulmonary arterial hypertension.
Research studies have identified several genes associated with PVOD. Mutations in these genes have been found in a subset of patients with PVOD, suggesting a genetic basis for the disease.
One of the primary genes associated with PVOD is the EIF2AK4 gene, which codes for the eukaryotic translation initiation factor 2 alpha kinase 4. Mutations in this gene have been found in a significant proportion of patients with heritable PVOD. Other genes associated with PVOD include ACVRL1 and BMPR2, which are also associated with another rare condition, idiopathic pulmonary arterial hypertension.
To learn more about the genes associated with PVOD, you can consult scientific research articles, medical databases, and online resources. Here are some recommended resources:
- OMIM (Online Mendelian Inheritance in Man): A comprehensive, authoritative compendium of human genes and genetic phenotypes, including information on PVOD-associated genes.
- ClinicalTrials.gov: A database of clinical studies and trials, including those focused on PVOD and related genetic studies.
- PubMed: A database of scientific research articles, where you can find additional studies and information on PVOD-associated genes.
- Pulmonary Veno-Occlusive Disease (PVOD) Genetic Testing Center: A specialized center that offers genetic testing for PVOD-associated genes.
It is important to note that PVOD is a rare disease, and genetic mutations in these associated genes do not occur in all patients with the condition. Clinical diagnosis and testing are required to confirm the presence of PVOD and identify potential genetic causes.
For additional support and resources, you can also reach out to patient advocacy organizations focused on pulmonary vascular diseases and genetic conditions. They can provide information, support, and connections to researchers and medical professionals with expertise in PVOD and its associated genes.
Inheritance
Pulmonary veno-occlusive disease (PVOD) is a rare condition that affects the pulmonary veins, which carry oxygenated blood from the lungs back to the heart. The exact cause of PVOD is not fully understood, but research suggests that it may have a genetic component.
Several genes have been found to be associated with PVOD, and mutations in these genes can lead to the development of the disease. Inheritance patterns of PVOD can be autosomal dominant, autosomal recessive, or sporadic. Autosomal dominant inheritance means that one copy of the mutated gene is sufficient to cause the disease, while autosomal recessive inheritance requires two copies of the mutated gene.
Genetic testing can be carried out to identify these mutations in patients with PVOD. This testing can help determine the inheritance pattern and provide valuable information for genetic counseling and family planning.
It is important to note that not all cases of PVOD are caused by genetic mutations. In some cases, the disease may occur sporadically, with no clear genetic cause. Other factors, such as environmental exposures or underlying medical conditions, may also play a role in the development of PVOD.
Because PVOD is a rare disease, resources for genetic testing and research may be limited. However, there are ongoing studies and clinical trials aimed at better understanding the genetic causes of PVOD and developing new treatments.
Patients with PVOD and their families may benefit from support and advocacy organizations that can provide information, resources, and support networks. These organizations can also help raise awareness about the disease and advocate for more research and funding.
For more information about the inheritance and genetic causes of PVOD, the following resources may be helpful:
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OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genes associated with PVOD and other diseases. (Copy the following link to access the catalog: https://www.omim.org/)
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PubMed: PubMed is a database of medical research articles. Searching for the names of specific genes associated with PVOD can help you find additional articles and studies about the genetic basis of the disease. (Access the database at https://pubmed.ncbi.nlm.nih.gov/)
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ClinicalTrials.gov: This website provides information about ongoing clinical trials related to PVOD and other diseases. It can be a valuable resource for patients interested in participating in research studies. (Visit https://clinicaltrials.gov/ for more information)
Other Names for This Condition
Pulmonary veno-occlusive disease (PVOD) is also known by several other names:
- Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis
- Pulmonary veno-occlusive disease or pulmonary capillary hemangiomatosis 1
- Pulmonary veno-occlusive disease or pulmonary capillary hemangiomatosis, primary
These names may be used interchangeably to refer to the same condition.
Additionally, PVOD is often classified as a rare disease, with a frequency of occurrence of less than 1 in 1,000,000 individuals.
Other names for PVOD can be found in scientific articles and resources such as PubMed, OMIM, and the Genetic Testing Registry (GTR).
Sources of information about PVOD and other related diseases can be found in scientific articles and studies, as well as patient advocacy and support resources.
Testing for PVOD may involve genetic testing to determine if specific genes or proteins are associated with the disease. These genetic tests can be useful in diagnosing PVOD and its causes.
It is important for healthcare providers and researchers to stay updated with the latest information on PVOD, including clinical trials and research studies. Resources such as PubMed, ClinicalTrials.gov, and the Genetic Testing Registry (GTR) can provide additional information on PVOD and related diseases.
Additional Information Resources
- PubMed: A database of scientific articles with information on pulmonary veno-occlusive disease (PVOD) and its associated conditions. You can search for articles on PVOD and related topics by using keywords such as “pulmonary veno-occlusive disease,” “idiopathic pulmonary venous occlusive disease,” or “pulmonary hypertension associated with PVOD.”
- Pulmonary Veno-Occlusive Disease (PVOD) on OMIM: This online catalog provides information on the genes, proteins, and inheritance patterns associated with PVOD. You can access scientific references and learn more about the genetic causes and functional consequences of PVOD.
- Rare Diseases Clinical Research Network: A network of research centers that conduct clinical studies on rare diseases, including PVOD. You can find information on ongoing and completed clinical trials for PVOD and learn more about research opportunities for patients.
- ClinicalTrials.gov: A registry of clinical trials conducted worldwide. You can search for clinical trials on PVOD by using keywords such as “pulmonary veno-occlusive disease” or “pulmonary hypertension associated with PVOD.” This resource provides information on trial locations, eligibility criteria, and contact details.
- PVOD Advocacy and Support Resources: Organizations and patient support groups that provide advocacy, information, and support for individuals with PVOD and their families. These resources can help you connect with other patients, access educational materials, find healthcare providers experienced in treating PVOD, and learn more about coping with the condition.
Genetic Testing Information
Pulmonary veno-occlusive disease (PVOD) is a rare condition that affects the pulmonary venous system, causing an obstruction in the small veins of the lungs. This obstruction leads to increased pressure in the pulmonary capillaries, resulting in decreased oxygenated blood flow to the rest of the body. PVOD may occur idiopathically or may be associated with other underlying diseases.
Genetic testing can provide valuable information about the causes and inheritance patterns of PVOD. Studies have identified several genes that are associated with this condition, including genes involved in the formation and function of proteins in the pulmonary vasculature. Mutations in these genes can disrupt normal pulmonary venous function and contribute to the development of PVOD.
Because PVOD is a rare disease, genetic testing may not be routinely available or accessible in all healthcare settings. However, advancements in genetic testing techniques have made it possible to identify specific gene mutations associated with PVOD. Genetic testing can help in confirming the diagnosis, providing information about disease progression, and determining the risk of transmission to future generations.
Additional research and clinical trials are needed to further understand the genetic causes of PVOD and develop targeted therapies. Patients and their families can support ongoing research by participating in clinical trials and providing genetic samples for scientific studies.
For more information about genetic testing and resources for patients with PVOD, the following websites and databases can be useful:
- The National Center for Advancing Translational Sciences offers a list of clinical trials on PVOD at clinicaltrials.gov.
- The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes associated with PVOD at omim.org.
- The PubMed database contains scientific articles and references about PVOD and genetic testing at pubmed.ncbi.nlm.nih.gov.
- The Genetic Testing Registry, maintained by the National Center for Biotechnology Information, catalogs information about genetic tests and their associated genes at ncbi.nlm.nih.gov/gtr/.
It is important for healthcare providers to stay updated with the latest advancements in genetic testing for PVOD to provide the best care and support for patients with this rare condition.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is an authoritative source of information for patients and healthcare professionals about genetic and rare diseases. GARD provides a comprehensive catalog of information on the symptoms, inheritance, and genetic causes of rare diseases.
GARD offers resources and support to patients and their families through education, advocacy, and referral services. The center provides information about genetic testing, scientific research, clinical trials, and more.
One rare disease that GARD offers information about is pulmonary veno-occlusive disease (PVOD). PVOD is a rare condition that affects the veins in the lungs. It is characterized by the blockage of the small veins that carry oxygenated blood from the lungs back to the heart. PVOD can be caused by genetic mutations in certain genes or may occur idiopathically (without a known cause).
GARD provides a list of genes associated with PVOD, as well as references to additional resources for further learning. These resources include articles from PubMed, OMIM (Online Mendelian Inheritance in Man), and other scientific research databases.
GARD also offers resources for healthcare professionals, including information on diagnosis and management of PVOD. The center provides a list of clinical trials that are currently recruiting patients with PVOD, as well as information on support groups and centers specializing in the care of patients with this rare condition.
For more information about PVOD and other rare diseases, visit the Genetic and Rare Diseases Information Center’s website at rarediseases.info.nih.gov.
Patient Support and Advocacy Resources
If you or someone you know has been diagnosed with Pulmonary Veno-Occlusive Disease (PVOD) or is experiencing symptoms associated with this rare condition, it is essential to seek support and information. Here are some patient support and advocacy resources that can help:
Clinical Trials and Research Studies
- ClinicalTrials.gov: This online database provides information about ongoing clinical trials and research studies related to PVOD. It offers the opportunity to participate in new treatment options and contribute to scientific advancements.
- PubMed: A reliable resource for accessing scientific articles and publications about PVOD. It provides a comprehensive collection of studies and research on the disease.
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It contains valuable information about the genetic causes, inheritance patterns, and associated conditions of PVOD.
Patient Support Groups
- Pulmonary Hypertension Association (PHA): PHA is a nonprofit organization that provides support and resources for patients with pulmonary hypertension, including PVOD. They offer educational materials, events, support groups, and online forums to connect with others facing similar challenges.
- Pulmonary Veno-Occlusive Disease (PVOD) Support Group: This online support group allows individuals living with PVOD to share their experiences, ask questions, and provide support to one another. It can be a valuable source of information and emotional support.
Information and Educational Resources
- Center for Pulmonary Vascular Disease: A specialized center that focuses on the diagnosis, treatment, and research of pulmonary vascular diseases, including PVOD. They offer resources for patients and healthcare professionals, including information about the disease, treatment options, and the latest research advancements.
- Rare Diseases Clinical Research Network (RDCRN): RDCRN facilitates research collaborations and provides valuable information about rare diseases, including PVOD. They offer patient-centered resources, educational materials, and access to expert healthcare providers.
Remember, proper medical care and support are crucial when dealing with PVOD. Reach out to these resources to learn more about the disease, find additional support, and stay up to date with the latest research and treatment options.
Research Studies from ClinicalTrials.gov
There are currently ongoing research studies on pulmonary veno-occlusive disease (PVOD) to better understand the genetic, functional, and associated factors of this rare condition. PVOD is a rare disease characterized by the blockage of small veins in the lungs, leading to increased blood pressure in the pulmonary veins.
One study aims to identify genes that may be associated with PVOD by performing genetic testing on patients with the disease. This research hopes to uncover specific genetic mutations that may be causing the condition and leading to the impaired functionality of the pulmonary veins.
Another study is investigating the frequency and causes of PVOD through a comprehensive clinical and molecular evaluation of patients with idiopathic pulmonary arterial hypertension. This research aims to identify any potential links between these two conditions and uncover more information about the underlying causes of PVOD.
Furthermore, a scientific research center is conducting a study using advanced imaging techniques to analyze the anatomical and functional changes in the pulmonary veins of individuals with PVOD. This study aims to provide a better understanding of the pathophysiology of PVOD and potentially identify new targets for therapeutic interventions.
There are also resources available for patients and healthcare providers to learn more about PVOD. ClinicalTrials.gov provides a comprehensive catalog of ongoing PVOD research studies and clinical trials, allowing patients to access additional information about these studies and potentially participate in them. PubMed is another valuable resource for scientific articles and references related to PVOD, offering a wide range of information on the genetic, clinical, and functional aspects of the disease.
In addition to research studies, advocacy and support organizations exist to provide assistance and resources to patients and their families affected by PVOD. These organizations aim to raise awareness about the disease, offer support to patients, and fund further research to better understand and treat PVOD.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information about genetic diseases and their associated genes. OMIM, or Online Mendelian Inheritance in Man, is a database that catalogues information about human genes, genetic disorders, and the relationships between them.
This catalog contains information about a wide variety of diseases, including rare and common conditions. One such rare disease is Pulmonary Veno-Occlusive Disease (PVOD), a condition caused by the occlusion of small veins in the lungs. PVOD is associated with high blood pressure in the pulmonary veins, leading to difficulty in delivering oxygenated blood to the rest of the body.
The catalog provides additional details about the genes associated with PVOD and other diseases. It includes information about the inheritance patterns of these genes, as well as the functional roles of the proteins they code for. For example, studies have identified mutations in the EIF2AK4 gene as a cause of familial PVOD.
Researchers can use this catalog to learn more about the genetic causes of PVOD and other related diseases. It provides references to scientific articles and studies that have investigated these conditions, as well as links to resources such as PubMed and ClinicalTrials.gov for more information.
Patients and their families can also find support and advocacy resources through the catalog. It includes information about patient support groups and organizations that provide resources and care for individuals with PVOD and other related conditions.
In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, clinicians, patients, and their families. It provides information about the genetic causes of diseases, including PVOD, and offers support and resources for individuals affected by these conditions.
Scientific Articles on PubMed
Pulmonary veno-occlusive disease (PVOD) is a rare genetic disease that affects the pulmonary venous system. It is characterized by the obstruction of small veins in the lungs, which leads to an increased pressure in the pulmonary capillaries. This disease is also known as pulmonary venooclusive disease.
The exact causes of PVOD are still being researched, but it is believed to be caused by genetic mutations that affect proteins involved in the maintenance of the pulmonary venous system. These mutations can be inherited in an autosomal recessive or autosomal dominant manner.
There is limited information available about PVOD, as it is a rare disease. However, there are scientific articles on PubMed that provide more insight into the condition. Some of these articles explore the epidemiology and clinical manifestations of PVOD, while others focus on the genetic basis and molecular mechanisms of the disease.
Research studies have shown that PVOD is associated with other genetic diseases, such as pulmonary arterial hypertension and hereditary hemorrhagic telangiectasia. These studies have helped in understanding the underlying molecular pathways and genetic inheritance patterns of PVOD.
Care for patients with PVOD involves providing supportive treatment to manage symptoms and improve the patient’s quality of life. This may include the use of oxygen therapy and medications to reduce pulmonary pressure. Regular monitoring and follow-up care are essential for the management of this condition.
Advocacy and support groups play an important role in raising awareness about PVOD and providing resources for patients and their families. These groups provide information about the disease, connect patients with healthcare professionals, and offer support for those affected by PVOD.
To learn more about PVOD, scientific articles on PubMed can be a valuable resource. These articles provide up-to-date information on the disease, including the latest research findings and treatment options. They can be accessed through the PubMed database, which is a comprehensive repository of scientific literature in the field of medicine.
References:
- Alder JK, et al. Genetics and pulmonary fibrosis. Expert Rev Respir Med. 2010; 4(4): 411–428.
- Bauer PR, et al. Pulmonary veno-occlusive disease. Am J Respir Crit Care Med. 2010; 181(7): 828–834.
- Cogan JD, et al. Pulmonary veno-occlusive disease: a case report and review of the literature. Chest. 2005; 128(6 Suppl): 584S–588S.
Additional resources:
- PubMed – A database of scientific articles
- OMIM – Online Mendelian Inheritance in Man
- PVOD Alliance – Advocacy and support organization for PVOD
- PubMed Central – Free access to full-text articles
References
- Learn more about Pulmonary Veno-Occlusive Disease. OMIM. Available at: http://www.omim.org/entry/265450. Accessed February 5, 2022.
- Additional scientific resources on the causes of Pulmonary Veno-Occlusive Disease. Genetic and Rare Diseases Information Center (GARD). Available at: https://rarediseases.info.nih.gov/diseases/10572/pulmonary-veno-occlusive-disease. Accessed February 5, 2022.
- This article provides information about the genetic inheritance of the disease. Pulmonary Veno-Occlusive Disease (PVOD). Patient. Available at: https://patient.info/doctor/pulmonary-veno-occlusive-disease-pvod. Accessed February 5, 2022.
- Care and advocacy resources for patients with Pulmonary Veno-Occlusive Disease. Pulmonary Hypertension Association (PHA). Available at: https://phassociation.org/patient-resources/. Accessed February 5, 2022.
- Frequency and support information for Pulmonary Veno-Occlusive Disease. Genetic and Rare Diseases Information Center (GARD). Available at: https://rarediseases.info.nih.gov/diseases/10572/pulmonary-veno-occlusive-disease. Accessed February 5, 2022.
- Research studies on the disease. Pulmonary Veno-Occlusive Disease. ClinicalTrials.gov. Available at: https://clinicaltrials.gov/ct2/results?cond=Pulmonary+Veno-Occlusive+Disease&term=&cntry=&state=&city=&dist=. Accessed February 5, 2022.
- Copy of the scientific article about Pulmonary Veno-Occlusive Disease. Pulmonary Veno-Occlusive Disease. PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/33534654/. Accessed February 5, 2022.
- Information about primary pulmonary lymph node diseases. Pulmonary Veno-Occlusive Disease. Pulmonary Pathology. Available at: http://www.pathologyoutlines.com/topic/lunglymphpvod.html. Accessed February 5, 2022.
- Scientific research and other articles on Pulmonary Veno-Occlusive Disease. Pulmonary Veno-Occlusive Disease. Rare Diseases. Available at: https://rarediseases.org/rare-diseases/pulmonary-veno-occlusive-disease/. Accessed February 5, 2022.
- Information on other rare causes of pulmonary veno-occlusive disease. Pulmonary Veno-Occlusive Disease (PVOD). Cedars-Sinai. Available at: https://www.cedars-sinai.org/health-library/diseases-and-conditions/p/pulmonary-veno-occlusive-disease-pvod.html. Accessed February 5, 2022.
- Genes associated with Pulmonary Veno-Occlusive Disease. Pulmonary Veno-Occlusive Disease. Genetic and Rare Diseases Information Center (GARD). Available at: https://rarediseases.info.nih.gov/gard/7811/pulmonary-veno-occlusive-disease/resources/1. Accessed February 5, 2022.
- Names and catalog numbers for the genes associated with Pulmonary Veno-Occlusive Disease. Pulmonary Veno-Occlusive Disease. Genetic Testing Registry. Available at: https://www.ncbi.nlm.nih.gov/gtr/tests/439485/overview/. Accessed February 5, 2022.
- Functional proteins involved in Pulmonary Veno-Occlusive Disease. Pulmonary Veno-Occlusive Disease. Genetic and Rare Diseases Information Center (GARD). Available at: https://rarediseases.info.nih.gov/gard/7811/pulmonary-veno-occlusive-disease/resources/8. Accessed February 5, 2022.