| umls-concept:C0039292 | skos:definition | MSH: 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.,CSP: autosomal recessive disorder of lipoprotein and lipid metabolism characterized by absence in plasma of normal high-density lipoprotein, deficiency of apolipoproteins AI and AII, low to normal low-density lipoproteins, high triglycerides and accumulation in body tissues of cholesteryl esters.,NCI: A rare, autosomal recessive inherited disorder of cholesterol transport, resulting in severe reduction of the amount of high density lipoprotein in the plasma and accumulation of choles | lld:umls |
