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Tangier Disease
Hierarchy: | ∟ ∟ ∟ ∟ ∟ ∟ ∟ Tangier Disease 7 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Tangier Disease 7 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Tangier Disease 7 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Tangier Disease 7 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ |
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History note: | Blood Protein Disorders (1966-1977) | Lipid Metabolism, Inborn Errors (1966-1977) | Lipoproteins (1966-1977) | Lipoproteins, HDL (1972-1977)X |
historyNote*: | 1991(1978)
X |
publicMeSHNote*: | 1991; see HYPOLIPOPROTEINEMIA 1980-1990, see HYPOLIPOPROTEINEMIAS 1978-1979
X |
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.
X |
activeMeSHYear*: | 2007X |
dateCreated*: | 1977-04-29X |
dateEstablished*: | 1991-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | VDKX |
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Labels and equivalent concepts: | Tangierin tauti (fi) XAnalfalipoproteinemia (fi, replaced) Tangier sjuka (sv) Tangier Hereditary Neuropathy (en, replaced) Neuropathy of Tangier Disease (en, replaced) High-Density Lipoprotein Deficiency, Type I (en, replaced) Analphalipoproteinemia (en, replaced) High-Density Lipoprotein Deficiency, Tangier Type (en, replaced) A-alphalipoprotein Neuropathy (en, replaced) Morbus Tangier (la-FI, replaced) |
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