Tangier Disease
304
relevant articles (7 outcomes,
21 trials/studies)
found for this Disease
Description:
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.
Also Known As:
High-Density Lipoprotein Deficiency, Tangier Type; High-Density Lipoprotein Deficiency, Type I; Neuropathy of Tangier Disease; Tangier Hereditary Neuropathy; A alphalipoprotein Neuropathy; Hereditary Neuropathy, Tangier; High Density Lipoprotein Deficiency, Tangier Type; High Density Lipoprotein Deficiency, Type I; Neuropathies, Tangier Disease; Neuropathy, Tangier Disease; Tangier Disease Neuropathies; A-alphalipoprotein Neuropathy; Analphalipoproteinemia; Tangier Disease Neuropathy
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Disease Context: Research Results