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)
PubMed search builder options
Subheadings:
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:
- High-Density Lipoprotein Deficiency, Type I
- High Density Lipoprotein Deficiency, Type I
- High-Density Lipoprotein Deficiency, Tangier Type
- High Density Lipoprotein Deficiency, Tangier Type
- High Density Lipoprotein Deficiency, Type 1
- Alpha High Density Lipoprotein Deficiency Disease
- Cholesterol Thesaurismosis
- Cholesterol Thesaurismoses
- Thesaurismoses, Cholesterol
- Thesaurismosis, Cholesterol
- Analphalipoproteinemia
- Analphalipoproteinemias
- HDLDT1
- Tangier Disease Neuropathy
- A-alphalipoprotein Neuropathy
- A-alphalipoprotein Neuropathies
- Neuropathies, A-alphalipoprotein
- Neuropathy, A-alphalipoprotein
- Neuropathy of Tangier Disease
- Tangier Hereditary Neuropathy
Previous Indexing:
See Also: