Tangier disease
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.
MONDO:0020127
hereditary peripheral neuropathy
excluded_subClassOf
MONDO:0001822
hypolipoproteinemia
is_a
MONDO:0017773
hypoalphalipoproteinemia
is_a
A-alphalipoprotein neuropathy
related
ATP-binding cassette transporter A1 deficiency
exact
Alpha high density lipoprotein deficiency disease
related
Analphalipo-proteinemia
related
Analphalipoproteinemia
exact
HDL lipoprotein deficiency disease
related
HDLDT1
related
Tangier disease
exact
cholesterol thesaurismosis
related
defective adenosine triphosphate-binding cassette transporter A1
exact
familial Hypoalphalipo-proteinemia
related
familial high density lipoprotein deficiency disease
related
tgd
related