Tangier disease
Tangier disease
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.
Also known as Analphalipoproteinemia, ATP-binding cassette transporter A1 deficiency, defective adenosine triphosphate-binding cassette transporter A1, Tangier disease — per MONDO