Tangier Disease


A-alphalipoprotein Neuropathies

A-alphalipoprotein Neuropathy

Alpha High Density Lipoprotein Deficiency Disease



Cholesterol Thesaurismoses

Cholesterol Thesaurismosis


High Density Lipoprotein Deficiency, Tangier Type

High Density Lipoprotein Deficiency, Type 1

High Density Lipoprotein Deficiency, Type I

High-Density Lipoprotein Deficiency, Tangier Type

High-Density Lipoprotein Deficiency, Type I

Neuropathies, A-alphalipoprotein

Neuropathy of Tangier Disease

Neuropathy, A-alphalipoprotein

Tangier Disease Neuropathy

Tangier Hereditary Neuropathy

Thesaurismoses, Cholesterol

Thesaurismosis, Cholesterol

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.