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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the ABCA1 gene cause Tangier disease. This gene provides instructions for making a protein that releases cholesterol and phospholipids from cells. These substances are used to make HDL. HDL then transports cholesterol and phospholipids to the liver.</p><p>Variants in the ABCA1 gene prevent the release of cholesterol and phospholipids from cells. As a result, these substances accumulate within cells, causing certain body tissues to enlarge and the tonsils to acquire a yellowish-orange color. A buildup of cholesterol can be toxic to cells, leading to impaired cell function or cell death. In addition, the inability to transport cholesterol and phospholipids out of cells results in very low HDL levels, which increases a person&#x27;s risk of cardiovascular disease. All these factors cause the signs and symptoms of Tangier disease.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/tangier-disease/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Tangier disease?"},{"bodyHtml":"<p>Additional signs and symptoms of Tangier disease include a slightly elevated amount of fat in the blood (mild hypertriglyceridemia); disturbances in nerve function (neuropathy); and enlarged, orange-colored tonsils. Affected individuals often develop atherosclerosis, which is an accumulation of fatty deposits and scar-like tissue in the lining of the arteries. Other features of this condition may include an enlarged spleen (splenomegaly), an enlarged liver (hepatomegaly), clouding of the outermost layer of the eye (corneal clouding), and type 2 diabetes.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/tangier-disease\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"tangier-disease","sourceDocuments":[{"name":"Tangier disease","reviewed":"2023-10","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:24.357382+00:00","label":"Causes","pageSha256":"d3f0f731a0802f247e4292f047a8caa39ef327ab18de5cca556b17ced5bba1d4","sourceUrl":"https://medlineplus.gov/genetics/condition/tangier-disease/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/tangier-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":"Tangier disease"},"schemaVersion":1}