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.

Descriptor ID	D013631
MeSH Number(s)	C10.668.829.800.875 C16.320.565.398.500.330.750 C18.452.584.500.875.330.750 C18.452.648.398.500.330.750
Concept/Terms	Tangier Disease Tangier Disease Analphalipoproteinemia Analphalipoproteinemias Cholesterol Thesaurismosis Cholesterol Thesaurismoses Thesaurismoses, Cholesterol Thesaurismosis, Cholesterol High Density Lipoprotein Deficiency, Tangier Type High Density Lipoprotein Deficiency, Type 1 High-Density Lipoprotein Deficiency, Tangier Type High-Density Lipoprotein Deficiency, Type I High Density Lipoprotein Deficiency, Type I Alpha High Density Lipoprotein Deficiency Disease HDLDT1 Tangier Disease Neuropathy Tangier Disease Neuropathy Neuropathy of Tangier Disease Tangier Hereditary Neuropathy A-alphalipoprotein Neuropathy A-alphalipoprotein Neuropathies Neuropathies, A-alphalipoprotein Neuropathy, A-alphalipoprotein

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Below are MeSH descriptors whose meaning is more specific than "Tangier Disease".