apolipoprotein A-I deficiency
Findings
No curated finding names apolipoprotein A-I deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).
Definition from the Mondo Disease Ontology (MONDO:0700513), read 2026-09-29. CC BY 4.0.
Features
9 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.
- Abnormal circulating lipid concentrationHPOHP:0003119
- Very frequent (80% to 99% of cases)
- AtherosclerosisHPOHP:0002621
- Very frequent (80% to 99% of cases)
- Decreased circulating HDL-C concentrationHPOHP:0003233
- Very frequent (80% to 99% of cases)
- Opacification of the corneal stromaHPOHP:0007759
- Very frequent (80% to 99% of cases)
- Angina pectorisHPOHP:0001681
- Frequent (30% to 79% of cases)
- Blurred visionHPOHP:0000622
- Frequent (30% to 79% of cases)
- Premature coronary artery atherosclerosisHPOHP:0005181
- Frequent (30% to 79% of cases)
- XanthelasmaHPOHP:0001114
- Frequent (30% to 79% of cases)
- XanthomatosisHPOHP:0000991
- Frequent (30% to 79% 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.
Where it sits
- A kind of
- Narrower terms (2)