Number of the records: 1  

choroba tangierska

  1. Record numberd013631
    Date06.06.2025
    TypeM
    Topical termchoroba tangierska
    Other termEnglish (Pseudonym) A-alphalipoprotein Neuropathy
    English (Pseudonym) Analphalipoproteinemia
    English (Pseudonym) Tangier Disease Neuropathy
    Slovak (Pseudonym) neuropatia A-alfalipoproteínová
    Slovak (Pseudonym) analfalipoproteinémia
    Slovak (Pseudonym) neuropatia pri tangierskej chorobe
    See also(Later heading) lipoproteíny, HDL
    (Later heading) retinitis pigmentosa
    (Skutočné meno) lipoproteíny, HDL
    (Skutočné meno) retinitis pigmentosa
    (Later heading) ATP-viažuci kazetový transportér 1
    UDCC10.668.829.800.875C16.320.565.398.500.330.750C18.452.584.500.875.330.750C18.452.584.563.500.330.750C18.452.648.398.500.330.750
    NoteAn 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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Number of the records: 1  

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