"Tangier Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D013631
|
| MeSH Number(s) |
C10.668.829.800.875 C16.320.565.398.500.330.750 C18.452.584.500.875.330.750 C18.452.648.398.500.330.750
|
| Concept/Terms |
Tangier Disease- Tangier Disease
- High Density Lipoprotein Deficiency, Type 1
- High-Density Lipoprotein Deficiency, Tangier Type
- High Density Lipoprotein Deficiency, Tangier Type
- Alpha High Density Lipoprotein Deficiency Disease
- Analphalipoproteinemia
- Analphalipoproteinemias
- Cholesterol Thesaurismosis
- Cholesterol Thesaurismoses
- Thesaurismoses, Cholesterol
- Thesaurismosis, Cholesterol
- HDLDT1
- High-Density Lipoprotein Deficiency, Type I
- High Density Lipoprotein Deficiency, Type I
Tangier Disease Neuropathy- Tangier Disease Neuropathy
- Neuropathy of Tangier Disease
- Tangier Hereditary Neuropathy
- A-alphalipoprotein Neuropathy
- A-alphalipoprotein Neuropathies
- Neuropathies, A-alphalipoprotein
- Neuropathy, A-alphalipoprotein
|
Below are MeSH descriptors whose meaning is more general than "Tangier Disease".
Below are MeSH descriptors whose meaning is more specific than "Tangier Disease".
This graph shows the total number of publications written about "Tangier Disease" by people in this website by year, and whether "Tangier Disease" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2017 | 0 | 1 | 1 |
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Below are the most recent publications written about "Tangier Disease" by people in Profiles.
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Reduced platelet count, but no major platelet function abnormalities, are associated with loss-of-function ATP-binding cassette-1 gene mutations. Clin Sci (Lond). 2017 Aug 15; 131(16):2095-2107.