Tangier disease is a severe HDL deficiency syndrome characterized by accumulation of cholesterol in tissue macrophages and prevalent atherosclerosis.
Etiology
mutations in ABCA1 gene
References
Oram JF. Molecular basis of cholesterol homeostasis: lessons from Tangier disease and ABCA1. Trends Mol Med. 2002 Apr;8(4):168-73. PMID: 11927274