hyperlipoproteinemia type V
Findings
No curated finding names hyperlipoproteinemia type V yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I.
Definition from the Mondo Disease Ontology (MONDO:0007762), read 2026-09-29. CC BY 4.0.
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.
- APOA5HGNC:17288
- Strong · Ambry Genetics · Semidominant · 2021
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Semidominant · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: hyperlipoproteinemia type V
- Also called
- familial APOA5 deficiencyfamilial apolipoprotein A-V deficiencyfamilial apolipoprotein A5 deficiencyHLP type 5major hyperlipidemia