Norum disease
Findings
No curated finding names Norum disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.
Definition from the Mondo Disease Ontology (MONDO:0009515), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
3 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.
- Corneal arcusHPOHP:0001084
- 1 of 1 reported patient
- Decreased lecithin cholesterol acyl transferase levelHPOHP:0025433
- 1 of 1 reported patient
- ProteinuriaHPOHP:0000093
- 1 of 1 reported patient
Genes
1 gene
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
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: Norum disease
- Also called
- complete LCAT deficiencyFLDlecithin acyltransferase deficiencylecithin:cholesterol acyltransferase deficiency