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positivity","onset_id":null,"reference":"ORPHA:199241","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/pulmonary-veno-occlusive-disease\">Pulmonary veno-occlusive disease</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>The primary genetic cause of PVOD is mutations in the EIF2AK4 gene. Mutations in other genes may cause a small percentage of cases. Other suspected causes of PVOD include viral infection and exposure to toxic chemicals, including certain chemotherapy drugs.</p><p>The protein produced from the EIF2AK4 gene helps cells respond appropriately to changes that could damage the cell. For example, when the level of protein building blocks (amino acids) in a cell falls too low, the activity of the EIF2AK4 protein helps reduce the production of other proteins, which conserves amino acids. The EIF2AK4 gene mutations involved in PVOD likely eliminate functional EIF2AK4 protein; however, it is unknown how absence of this protein&#x27;s function leads to the pulmonary vessel abnormalities that underlie PVOD.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/pulmonary-veno-occlusive-disease/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Pulmonary veno-occlusive disease?"},{"bodyHtml":"<p>The problems with blood flow in PVOD also impair the delivery of oxygenated blood to the rest of the body, which leads to the signs and symptoms of the condition. Shortness of breath (dyspnea) and tiredness (fatigue) during exertion are the most common symptoms of this condition. Other common features include dizziness, a lack of energy (lethargy), difficulty breathing when lying down, and a cough that does not go away. As the condition worsens, affected individuals can develop a bluish tint to the skin (cyanosis), chest pains, fainting spells, and an accumulation of fluid in the lungs (pulmonary edema).</p><p>Certain features commonly seen in people with PVOD can be identified using a test called a CT scan. One of these features, which is seen in the lungs of affected individuals, is an abnormality described as centrilobular ground-glass opacities. Affected individuals also have abnormal thickening of certain tissues in the lungs, which is described as septal lines. In addition, lymph nodes in the chest (mediastinal lymph nodes) are abnormally enlarged in people with PVOD.</p><p>PVOD can begin at any age, and the blood flow problems worsen over time. Because of the increased blood pressure in the pulmonary arteries, the heart must work harder than normal to pump blood to the lungs, which can eventually lead to fatal heart failure. Most people with this severe disorder do not live more than 2 years after diagnosis.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/pulmonary-veno-occlusive-disease\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"pulmonary-veno-occlusive-disease","sourceDocuments":[{"name":"Pulmonary veno-occlusive disease","reviewed":"2015-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:34.765368+00:00","label":"Causes","pageSha256":"0645e7ec3587524454f8e7e0e77bf3ce8dc3d76e7f113b1509976214e5da4cc9","sourceUrl":"https://medlineplus.gov/genetics/condition/pulmonary-veno-occlusive-disease/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/pulmonary-veno-occlusive-disease"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Pulmonary veno-occlusive disease"},"schemaVersion":1}