Tangier disease
MONDO:0008783Tangier 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: ATP-binding cassette transporter A1 deficiency, Analphalipoproteinemia, Tangier disease, defective adenosine triphosphate-binding cassette transporter A1, A-alphalipoprotein neuropathy, Alpha high density lipoprotein deficiency disease, Analphalipo-proteinemia, HDL lipoprotein deficiency disease
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