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identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>ACD/MPV can be caused by mutations in the FOXF1 gene. The protein produced from the FOXF1 gene is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of many other genes. The FOXF1 protein is important in development of the lungs and their blood vessels. The FOXF1 protein is also involved in the development of the gastrointestinal tract. Mutations in the FOXF1 gene that cause ACD/MPV result in an inactive protein that cannot regulate development, leading to abnormal formation of the pulmonary blood vessels and gastrointestinal tract.</p><p>ACD/MPV can also be caused by a deletion of genetic material on the long arm of chromosome 16 in a region known as 16q24.1. This region includes several genes, including the FOXF1 gene. Deletion of one copy of the FOXF1 gene in each cell reduces the production of the FOXF1 protein. A shortage of FOXF1 protein affects the development of pulmonary blood vessels and causes the main features of ACD/MPV. Researchers suggest that the loss of other genes in this region probably causes the additional abnormalities, such as heart defects, seen in some infants with this disorder. Like FOXF1, these genes also provide instructions for making transcription factors that regulate development of various body systems before birth.</p><p>In about 60 percent of affected infants, the genetic cause of ACD/MPV is unknown.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/alveolar-capillary-dysplasia-with-misalignment-of-pulmonary-veins/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Alveolar capillary dysplasia with misalignment of pulmonary veins?"},{"bodyHtml":"<p>In ACD/MPV, the alveolar capillaries fail to develop normally. The number of capillaries is drastically reduced, and existing capillaries are improperly positioned within the walls of the alveoli. These abnormalities in capillary number and location impede the exchange of oxygen and carbon dioxide.</p><p>Other abnormalities of the blood vessels in the lungs also occur in ACD/MPV. The veins that carry blood from the lungs into the heart (pulmonary veins) are improperly positioned and may be abnormally bundled together with arteries that carry blood from the heart to the lungs (pulmonary arteries). The muscle tissue in the walls of the pulmonary arteries may be overgrown, resulting in thicker artery walls and a narrower channel. These changes restrict normal blood flow, which causes high blood pressure in the pulmonary arteries (pulmonary hypertension) and requires the heart to pump harder.</p><p>Most infants with ACD/MPV are born with additional abnormalities. These may include abnormal twisting (malrotation) of the large intestine or other malformations of the gastrointestinal tract. Cardiovascular and genitourinary abnormalities are also common in affected individuals.</p><p>Infants with ACD/MPV typically develop respiratory distress within a few minutes to a few hours after birth. They experience shortness of breath and cyanosis, which is a bluish appearance of the skin, mucous membranes, or the area underneath the fingernails caused by a lack of oxygen in the blood. Without lung transplantation, infants with ACD/MPV have not been known to survive past one year of age, and most affected infants live only a few weeks.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/alveolar-capillary-dysplasia-with-misalignment-of-pulmonary-veins\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"alveolar-capillary-dysplasia-with-misalignment-of-pulmonary-veins","sourceDocuments":[{"name":"Alveolar capillary dysplasia with misalignment of pulmonary veins","reviewed":"2010-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:19.670589+00:00","label":"Causes","pageSha256":"1f24e273a6b56fc75e29dfbd8efc4552b3d288fba11647545e9fc61f21286d6e","sourceUrl":"https://medlineplus.gov/genetics/condition/alveolar-capillary-dysplasia-with-misalignment-of-pulmonary-veins/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/alveolar-capillary-dysplasia-with-misalignment-of-pulmonary-veins"}],"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":"Alveolar capillary dysplasia with misalignment of pulmonary veins"},"schemaVersion":1}