更新于:2024-05-01

Tangier Disease

Tangier病

基本信息

别名
A - alphalipoproteinaemia neuropathy、A - alphalipoproteinemia neuropathy、A-alphalipoprotein Neuropathies
+ [51]
简介
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.

分析

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