has material basis in germline mutation in ABCA1 hypolipoproteinemia Tangier disease https://www.malacards.org/card/tangier_disease cholesterol thesaurismosis Analphalipo-proteinemia familial high density lipoprotein deficiency disease MONDO:0008783 Analphalipoproteinemia DOID:1388 tgd MedDRA:10051875 familial Hypoalphalipo-proteinemia Tangier disease Orphanet:31150 OMIM:205400 A-alphalipoprotein neuropathy UMLS:C0039292 NCIT:C85182 HDL lipoprotein deficiency disease Alpha high density lipoprotein deficiency disease NORD:1757 SCTID:723579009 HDLDT1 Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults. MEDGEN:52644 ATP-binding cassette transporter A1 deficiency defective adenosine triphosphate-binding cassette transporter A1 GARD:0007731 MESH:D013631 NANDO:1200854 hypoalphalipoproteinemia hereditary peripheral neuropathy