"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.
- 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
- Cholesterol Thesaurismosis
- Cholesterol Thesaurismoses
- Thesaurismoses, Cholesterol
- Thesaurismosis, Cholesterol
- 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".
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Below are the most recent publications written about "Tangier Disease" by people in Profiles.
Bi X, Pashos EE, Cuchel M, Lyssenko NN, Hernandez M, Picataggi A, McParland J, Yang W, Liu Y, Yan R, Yu C, DerOhannessian SL, Phillips MC, Morrisey EE, Duncan SA, Rader DJ. ATP-Binding Cassette Transporter A1 Deficiency in Human Induced Pluripotent Stem Cell-Derived Hepatocytes Abrogates HDL Biogenesis and Enhances Triglyceride Secretion. EBioMedicine. 2017 Apr; 18:139-145.