Tangier Disease

**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.

**Tree numbers:** - C10.668.829.800.875 - C16.320.565.398.500.330.750 - C18.452.584.500.875.330.750 - C18.452.584.563.500.330.750 - C18.452.648.398.500.330.750

**Synonyms:** - Analphalipoproteinemia - High-Density Lipoprotein Deficiency, Type I - High-Density Lipoprotein Deficiency, Tangier Type - HDLDT1 - High Density Lipoprotein Deficiency, Type 1 - Alpha High Density Lipoprotein Deficiency Disease - Cholesterol Thesaurismosis - High Density Lipoprotein Deficiency, Tangier Type