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Tangier Disease

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.

Year introduced: 1991(1978)

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Tree Number(s): 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

MeSH Unique ID: D013631

Entry Terms:

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

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