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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene. This gene provides instructions for making a protein called the type IIb sodium-phosphate cotransporter, which plays a role in the regulation of phosphate levels (phosphate homeostasis). Although this protein can be found in several organs and tissues in the body, it is located mainly in the lungs, specifically in cells in the alveoli called alveolar type II cells. These cells produce and recycle surfactant, which is a mixture of certain phosphate-containing fats (called phospholipids) and proteins that lines the lung tissue and makes breathing easy.</p><p>The recycling of surfactant releases phosphate into the alveoli. Research suggests that the type IIb sodium-phosphate cotransporter normally helps clear this phosphate. SLC34A2 gene mutations are thought to impair the activity of the type IIb sodium-phosphate cotransporter, resulting in the accumulation of phosphate in the alveoli. The accumulated phosphate forms the microliths that cause the signs and symptoms of pulmonary alveolar microlithiasis.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/pulmonary-alveolar-microlithiasis/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Pulmonary alveolar microlithiasis?"},{"bodyHtml":"<p>Pulmonary alveolar microlithiasis is usually diagnosed before age 40. Often the disorder is discovered before symptoms develop, when medical imaging is done for other reasons. The condition typically worsens slowly over many years, although some affected individuals have signs and symptoms that remain stable for long periods of time.</p><p>People with pulmonary alveolar microlithiasis can also develop calcium phosphate deposits in other organs and tissues of the body, including the kidneys, gallbladder, testes, and the valve that connects a large blood vessel called the aorta with the heart (the aortic valve). In rare cases, affected individuals have complications related to accumulation of these deposits, such as a narrowing (stenosis) of the aortic valve that can impede normal blood flow.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/pulmonary-alveolar-microlithiasis\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"pulmonary-alveolar-microlithiasis","sourceDocuments":[{"name":"Pulmonary alveolar microlithiasis","reviewed":"2014-12","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:34.074642+00:00","label":"Causes","pageSha256":"e89c9374b6ec97f06222f4d0481298236726f23ae36bfe76a37b52e642ca893d","sourceUrl":"https://medlineplus.gov/genetics/condition/pulmonary-alveolar-microlithiasis/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/pulmonary-alveolar-microlithiasis"}],"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 alveolar microlithiasis"},"schemaVersion":1}