Number of the records: 1  

choroba tangierska

  1. Subject h.choroba tangierska
    Subject h.Tangier Disease
    Entry termsneuropatia A-alfalipoproteínová
    analfalipoproteinémia
    neuropatia pri tangierskej chorobe
    English X referencesA-alphalipoprotein Neuropathy
    Analphalipoproteinemia
    Tangier Disease Neuropathy
    Scope note in EnglishAn 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.
    See also reference (FX) in Slovak lipoproteíny, HDL
    retinitis pigmentosa
    See also reference (FX) in English Lipoproteins, HDL
    Retinitis Pigmentosa
    Links (3) - MeSH descriptor
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Number of the records: 1  

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