Tangier Disease
Synonyms
A-alphalipoprotein Neuropathies
A-alphalipoprotein Neuropathy
Alpha High Density Lipoprotein Deficiency Disease
Analphalipoproteinemia
Analphalipoproteinemias
Cholesterol Thesaurismoses
Cholesterol Thesaurismosis
HDLDT1
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.