hypoalphalipoproteinemia, primary, 2
MONDO:0032766Mondo
Findings
No curated finding names hypoalphalipoproteinemia, primary, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
5 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 HDL-C concentrationHPOHP:0003233
- 5 of 5 reported patients
- Premature coronary artery atherosclerosisHPOHP:0005181
- 2 of 5 reported patients
- CataractHPOHP:0000518
- 1 of 5 reported patients
- Corneal arcusHPOHP:0001084
- 1 of 5 reported patients
- Tendon xanthomatosisHPOHP:0010874
- 1 of 5 reported patients
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.
- APOA1HGNC:600
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Semidominant · 2025
Where it sits
- Narrower terms (1)
Other names
1 name
Resolves to: hypoalphalipoproteinemia, primary, 2
- Also called
- hypoalphalipoproteinemia, primary, 2, with or without corneal clouding