Tangier sjuka (Tangier Disease)

Tangier sjuka

En autosomal recessivt ärftlig sjukdom orsakad av mutation av ATP-BINDANDE KASSETTTRANSPORTÖRER involverade i cellulär kolesterolavlägsnande (omvänd kolesteroltransport). Det kännetecknas av nära frånvaro av ALFA-LIPOPROTEINER (högdensitetslipoproteiner) i blod. Den massiva vävnadsavsättningen av kolesterolestrar resulterar i HEPATOMEGALI; SPLENOMEGALI; RETINITIS PIGMENTOSA; stora orange tonsiller; och ofta sensorisk POLYNEUROPATI. Störningen hittades först bland invånarna på Tanger Island i Chesapeake Bay, MD.

Förklaring på engelska

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.

Synonym, svenska:

Synonym, engelska: High-Density Lipoprotein Deficiency, Type I; High Density Lipoprotein Deficiency, Type I; High-Density Lipoprotein Deficiency, Tangier Type; High Density Lipoprotein Deficiency, Tangier Type; High Density Lipoprotein Deficiency, Type 1; Alpha High Density Lipoprotein Deficiency Disease; Cholesterol Thesaurismosis; Cholesterol Thesaurismoses; Thesaurismoses, Cholesterol; Thesaurismosis, Cholesterol; Analphalipoproteinemia; Analphalipoproteinemias; HDLDT1; Tangier Disease Neuropathy; A-alphalipoprotein Neuropathy; A-alphalipoprotein Neuropathies; Neuropathies, A-alphalipoprotein; Neuropathy, A-alphalipoprotein; Neuropathy of Tangier Disease; Tangier Hereditary Neuropathy

Svensk term Tangier sjuka
Synonym på svenska
Synonym på engelska High-Density Lipoprotein Deficiency, Type I; High Density Lipoprotein Deficiency, Type I; High-Density Lipoprotein Deficiency, Tangier Type; High Density Lipoprotein Deficiency, Tangier Type; High Density Lipoprotein Deficiency, Type 1; Alpha High Density Lipoprotein Deficiency Disease; Cholesterol Thesaurismosis; Cholesterol Thesaurismoses; Thesaurismoses, Cholesterol; Thesaurismosis, Cholesterol; Analphalipoproteinemia; Analphalipoproteinemias; HDLDT1; Tangier Disease Neuropathy; A-alphalipoprotein Neuropathy; A-alphalipoprotein Neuropathies; Neuropathies, A-alphalipoprotein; Neuropathy, A-alphalipoprotein; Neuropathy of Tangier Disease; Tangier Hereditary Neuropathy
Engelsk term Tangier Disease
MESH ID D013631

MESH-termer, förklaringar och definitioner kommer från NIH NLM. Förklaringar på svenska är gjort av KIB och MEDE.