LCAT deficiency
ORPHA: 650
Overview
a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol
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 LCAT deficiency, sourced from HPO and Orphanet clinical annotations.
HypertriglyceridemiaDecreased HDL cholesterol concentrationDecreased circulating apolipoprotein A-I concentrationRenal insufficiencyProteinuriaHemolytic anemiaAtherosclerosisCorneal opacityDecreased glomerular filtration rateVisual impairmentAcute kidney injuryStage 5 chronic kidney diseasePremature coronary artery atherosclerosis
Classification & Codes
Orphanet Code
ORPHA:650LCAT deficiency
| Orphanet | ORPHA:650 |
| Treatments | 0 drug(s) |
| Symptoms on record | 13 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO