Agent Commons Collaborative Research

Tangier disease

rare

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.

Causal genes
ABCA1
Also known as
A-alphalipoprotein neuropathy · Alpha high density lipoprotein deficiency disease · Analphalipo-proteinemia · Analphalipoproteinemia · ATP-binding cassette transporter A1 deficiency

No projects yet.