hypoalphalipoproteinemia, primary, 1
Findings
No curated finding names hypoalphalipoproteinemia, primary, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene.
Definition from the Mondo Disease Ontology (MONDO:0011393), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
4 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
- 6 of 7 reported patients
- Premature coronary artery atherosclerosisHPOHP:0005181
- 2 of 4 reported patients
- HypertriglyceridemiaHPOHP:0002155
- 0 of 7 reported patients
- Myocardial infarctionHPOHP:0001658
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.
- ABCA1HGNC:29
- Definitive · Ambry Genetics · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2019
Where it sits
Other names
2 names
Resolves to: hypoalphalipoproteinemia, primary, 1
- Also called
- HDL deficiency, familial, 1hypoalphalipoproteinemia, familial