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pain","onset_id":null,"reference":"ORPHA:538","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e08642de37c9ba13682e902ae432b5dd9ea94d582ac57996db3d7492a4f286ad","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:538","disease_name":"Lymphangioleiomyomatosis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0010310","is_excluded":false,"label":"Chylothorax","onset_id":null,"reference":"ORPHA:538","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/lymphangioleiomyomatosis\">Lymphangioleiomyomatosis</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the TSC1 gene or, more commonly, the TSC2 gene, cause LAM. The TSC1 and TSC2 genes provide instructions for making the proteins hamartin and tuberin, respectively. Within cells, these two proteins likely help regulate cell growth and size. The proteins act as tumor suppressors, which normally prevent cells from growing and dividing too fast or in an uncontrolled way.</p><p>When both copies of the TSC1 gene are mutated in a particular cell, that cell cannot produce any functional hamartin; cells with two altered copies of the TSC2 gene are unable to produce any functional tuberin. The loss of these proteins allows the cell to grow and divide in an uncontrolled way, resulting in the tumors and cysts associated with LAM.</p><p>It is not well understood why LAM occurs predominantly in women. Researchers believe that the female sex hormone estrogen may be involved in the development of the disorder.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/lymphangioleiomyomatosis/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Lymphangioleiomyomatosis?"},{"bodyHtml":"<p>LAM is found almost exclusively in women. It often occurs as a feature of an inherited syndrome called tuberous sclerosis complex. When LAM occurs alone it is called isolated or sporadic LAM.</p><p>Signs and symptoms of LAM most often appear during a woman&#x27;s thirties. Affected women have an overgrowth of abnormal smooth muscle-like cells (LAM cells) in the lungs, resulting in the formation of lung cysts and the destruction of normal lung tissue. They may also have an accumulation of fluid in the cavity around the lungs (chylothorax).</p><p>The lung abnormalities resulting from LAM may cause difficulty breathing (dyspnea), chest pain, and coughing, which may bring up blood (hemoptysis). Many women with this disorder have recurrent episodes of collapsed lung (spontaneous pneumothorax). The lung problems may be progressive and, without lung transplantation, may eventually lead to limitations in activities of daily living, the need for oxygen therapy, and respiratory failure. Although LAM cells are not considered cancerous, they may spread between tissues (metastasize). As a result, the condition may recur even after lung transplantation.</p><p>Women with LAM may develop cysts in the lymphatic vessels of the chest and abdomen. These cysts are called lymphangioleiomyomas. Affected women may also develop tumors called angiomyolipomas made up of LAM cells, fat cells, and blood vessels. Angiomyolipomas usually develop in the kidneys. Internal bleeding is a common complication of angiomyolipomas.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/lymphangioleiomyomatosis\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"lymphangioleiomyomatosis","sourceDocuments":[{"name":"Lymphangioleiomyomatosis","reviewed":"2010-06","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:00.690536+00:00","label":"Causes","pageSha256":"32f8ae161daf3a2f16dff3f2cbc18798a413f9755a92af18c5f8da78e2046ccb","sourceUrl":"https://medlineplus.gov/genetics/condition/lymphangioleiomyomatosis/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/lymphangioleiomyomatosis"}],"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":"Lymphangioleiomyomatosis"},"schemaVersion":1}