ContentsSynopsisCodesDifferential Diagnosis & PitfallsBest TestsReferences
Tangier disease
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Tangier disease

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Contributors: Jamie Adams MD
Other Resources UpToDate PubMed


A very rare autosomal recessive disorder caused by a mutation in the ATP-binding cassette transporter A1 (ABCA1) gene, which plays an important role in cholesterol transport. The mutation leads to severe high-density lipoprotein (HDL) deficiency and accumulation of cholesterol and lipids in various tissues. Signs and symptoms include enlarged yellow-orange tonsils, neuropathy, hepatosplenomegaly, lymphadenopathy, corneal opacities, and premature atherosclerosis resulting in early cardiovascular disease.

For more information, see OMIM.


E78.6 – Lipoprotein deficiency

448834003 – High density lipoprotein deficiency

Differential Diagnosis & Pitfalls

  • Apolipoprotein A-1 deficiency
  • Lecithin-cholesterol acyltransferase (LCAT) deficiency
  • Type 1 hyperlipoproteinemia or familial chylomicronemia
  • Niemann-Pick disease

Best Tests

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Last Updated: 03/29/2017
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Tangier disease
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Tangier disease : Hepatomegaly, Distal muscle weakness, Hypocholesterolemia, Neuropathy peripheral, Numbness, Paresthesias, Splenomegaly
Copyright © 2019 VisualDx®. All rights reserved.