/Tangier disease

Tangier disease

Rare Disease

MONDO:0008783

Also Known As

ATP-binding cassette transporter A1 deficiencyAnalphalipoproteinemiaTangier diseasedefective adenosine triphosphate-binding cassette transporter A1familial alpha-lipoprotein deficiencyfamilial high density lipoprotein deficiencyA-alphalipoprotein neuropathyAlpha high density lipoprotein deficiency diseaseAnalphalipo-proteinemiaHDL lipoprotein deficiency diseaseHDLDT1cholesterol thesaurismosisfamilial Hypoalphalipo-proteinemiafamilial high density lipoprotein deficiency diseasehigh density lipoprotein deficiency, Tangier typehigh density lipoprotein deficiency, type 1tgd

Definition

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.