LCAT deficiency
Findings
No curated finding names LCAT deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0018999), read 2026-09-29. CC BY 4.0.
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating apolipoprotein A-I concentrationHPOHP:0031799
- Very frequent (80% to 99% of cases)
- Decreased circulating HDL-C concentrationHPOHP:0003233
- Very frequent (80% to 99% of cases)
- HypertriglyceridemiaHPOHP:0002155
- Very frequent (80% to 99% of cases)
- AtherosclerosisHPOHP:0002621
- Frequent (30% to 79% of cases)
- Corneal opacityHPOHP:0007957
- Frequent (30% to 79% of cases)
- Decreased glomerular filtration rateHPOHP:0012213
- Frequent (30% to 79% of cases)
- Hemolytic anemiaHPOHP:0001878
- Frequent (30% to 79% of cases)
- ProteinuriaHPOHP:0000093
- Frequent (30% to 79% of cases)
- Renal insufficiencyHPOHP:0000083
- Frequent (30% to 79% of cases)
- Acute kidney injuryHPOHP:0001919
- Occasional (5% to 29% of cases)
- Premature coronary artery atherosclerosisHPOHP:0005181
- Occasional (5% to 29% of cases)
- Stage 5 chronic kidney diseaseHPOHP:0003774
- Occasional (5% to 29% of cases)
Show the remaining 1
- Visual impairmentHPOHP:0000505
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LCATHGNC:6522
- Definitive · Ambry Genetics · Autosomal recessive · 2017
- HGNC:37261HGNC:37261
- Limited · Franklin by Genoox · Autosomal recessive · 2020
Where it sits
- A kind of
- Narrower terms (2)
Other names
1 name
Resolves to: LCAT deficiency
- Also called
- lecithin-cholesterol acyltransferase deficiency