LCAT deficiency

MONDO:0018999

LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.

Also known as: lecithin-cholesterol acyltransferase deficiency

4 clinical trials for this condition and its sub-types, 1 tagged with LCAT deficiency itself.

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Where it sits in the disease tree

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Part of

↑ Hypoalphalipoproteinemia (7)

Sub-types of LCAT deficiency

Norum disease 2 trials
Fish eye disease 1 trial

Including sub-types (4) Tagged with LCAT deficiency (1)

Trials to join now! 1 Completed 3

Rare disease study seeks to unlock secrets of LCAT deficiency

Knowledge-focused Recruiting now

This study is not testing a new treatment. Instead, it aims to collect health information from 40 people with LCAT deficiency, a rare genetic disorder that affects cholesterol and kidney function. Researchers will review medical records, perform blood and urine tests, and track h…

Sponsor: University of Pennsylvania • Aim: Knowledge-focused

Last updated Jun 27, 2026 12:29 UTC

LCAT deficiency

Where it sits in the disease tree

Rare disease study seeks to unlock secrets of LCAT deficiency