Tangier disease

MeSH: D013631ORPHA: 31150

Overview

extremely rare inherited human disorder

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with Tangier disease, sourced from HPO and Orphanet clinical annotations.

HypertriglyceridemiaHypocholesterolemiaEctropionDry skinHepatosplenomegalyAbdominal painDistal muscle weaknessChronic noninfectious lymphadenopathyPeripheral axonal neuropathyAccelerated atherosclerosisCoronary artery stenosisProgressive peripheral neuropathyNail dystrophyOrange discolored tonsilsFacial diplegiaLeft ventricular hypertrophyThrombocytopeniaAnemiaSyringomyeliaCorneal opacityCarotid artery stenosisImpaired temperature sensation

Classification & Codes

MeSH Code

D013631

Orphanet Code

ORPHA:31150
Tangier disease
MeSHD013631
OrphanetORPHA:31150
Treatments0 drug(s)
Symptoms on record22 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO