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choroba tangierska
Č. záznamu d013631 Dátum 06.06.2025 Typ M Tematický termín choroba tangierska Iný termín Angličtina (Pseudonym) A-alphalipoprotein Neuropathy
Angličtina (Pseudonym) Analphalipoproteinemia
Angličtina (Pseudonym) Tangier Disease Neuropathy
Slovenčina (Pseudonym) neuropatia A-alfalipoproteínová
Slovenčina (Pseudonym) analfalipoproteinémia
Slovenčina (Pseudonym) neuropatia pri tangierskej chorobe
Pozri tiež (Novšie záhlavie) lipoproteíny, HDL
(Novšie záhlavie) retinitis pigmentosa
(Skutočné meno) lipoproteíny, HDL
(Skutočné meno) retinitis pigmentosa
(Novšie záhlavie) ATP-viažuci kazetový transportér 1
MDT C10.668.829.800.875C16.320.565.398.500.330.750C18.452.584.500.875.330.750C18.452.584.563.500.330.750C18.452.648.398.500.330.750 Poznámka 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. 
predmetové heslo
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