Structured Summary
Abstract
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.
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Synonyms
20 entry terms
- Alpha High Density Lipoprotein Deficiency Disease
- Analphalipoproteinemia
- Cholesterol Thesaurismosis
- HDLDT1
- High Density Lipoprotein Deficiency, Tangier Type
- High Density Lipoprotein Deficiency, Type 1
- High-Density Lipoprotein Deficiency, Tangier Type
- High-Density Lipoprotein Deficiency, Type I
- Analphalipoproteinemias
- Cholesterol Thesaurismoses
- High Density Lipoprotein Deficiency, Type I
- Thesaurismoses, Cholesterol
- Thesaurismosis, Cholesterol
- A-alphalipoprotein Neuropathy
- Neuropathy of Tangier Disease
- Tangier Disease Neuropathy
- Tangier Hereditary Neuropathy
- A-alphalipoprotein Neuropathies
- Neuropathies, A-alphalipoprotein
- Neuropathy, A-alphalipoprotein
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Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
History Note
1991(1978)
MeSH Record
Previous Indexing
- Blood Protein Disorders (1966-1977)
- Lipid Metabolism, Inborn Errors (1966-1977)
- Lipoproteins (1966-1977)
- Lipoproteins, HDL (1972-1977)
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AMA Style
References
- National Library of Medicine. Tangier Disease. Medical Subject Headings (MeSH). 2026. Unique ID D013631. http://id.nlm.nih.gov/mesh/2026/D013631
- Tangier Disease. In: Wikipedia. https://en.wikipedia.org/wiki/Tangier_disease
- Tangier Disease. In: Wikidata. https://www.wikidata.org/wiki/Q1442621