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Tangier Disease: An autosomal recessively inherited disorder caused by mutation of Atp-binding cassette transporters involved in cellular cholesterol removal (reverse-cholesterol transport). It is characterized by near absence of Alpha-lipoproteins (high-density lipoproteins) in blood. The massive tissue deposition of cholesterol esters results in Hepatomegaly; Splenomegaly; Retinitis pigmentosa; large orange tonsils; and often sensory Polyneuropathy. The disorder was first found among inhabitants of Tangier Island in the Chesapeake Bay, Md.
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