Tangier disease

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A disorder (high density lipoprotein (HDL) deficiency type 1) in which there are low levels of HDL in plasma; hypercholesterolaemia; enlarged liver, spleen, and lymph nodes; and peripheral neuropathy. The cause is a mutation in the ATP-binding cassette-1 gene (ABC1) (familial HDL deficiency is also caused by mutation in this gene) which leads indirectly to hypercatabolism of HDL. See also LXR.

Subjects: Chemistry — Medicine and Health.

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