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Tangier Disease MeSH Descriptor Data 2023


MeSH Heading
Tangier Disease
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
Unique ID
D013631
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D013631
Scope Note
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.
Entry Version
TANGIER DIS
Entry Term(s)
A-alphalipoprotein Neuropathy
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
Neuropathy of Tangier Disease
Tangier Disease Neuropathy
Tangier Hereditary Neuropathy
Previous Indexing
Blood Protein Disorders (1966-1977)
Lipid Metabolism, Inborn Errors (1966-1977)
Lipoproteins (1966-1977)
Lipoproteins, HDL (1972-1977)
See Also
Lipoproteins, HDL
Retinitis Pigmentosa
Public MeSH Note
1991; see HYPOLIPOPROTEINEMIA 1980-1990, see HYPOLIPOPROTEINEMIAS 1978-1979
History Note
1991(1978)
Date Established
1991/01/01
Date of Entry
1977/04/29
Revision Date
2021/06/30
Tangier Disease Preferred
Tangier Disease Neuropathy Narrower
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