Tangier Disease

Tangier sjuka

Engelsk definition

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.

Svenska synonymer

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Engelska synonymer

High-Density Lipoprotein Deficiency, Type I — High Density Lipoprotein Deficiency, Type I — High-Density Lipoprotein Deficiency, Tangier Type — High Density Lipoprotein Deficiency, Tangier Type — High Density Lipoprotein Deficiency, Type 1 — Alpha High Density Lipoprotein Deficiency Disease — Cholesterol Thesaurismosis — Cholesterol Thesaurismoses — Thesaurismoses, Cholesterol — Thesaurismosis, Cholesterol — Analphalipoproteinemia — Analphalipoproteinemias — HDLDT1 — Tangier Disease Neuropathy — A-alphalipoprotein Neuropathy — A-alphalipoprotein Neuropathies — Neuropathies, A-alphalipoprotein — Neuropathy, A-alphalipoprotein — Neuropathy of Tangier Disease — Tangier Hereditary Neuropathy