hyperlipoproteinemia type 3
Findings
No curated finding names hyperlipoproteinemia type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease.
Definition from the Mondo Disease Ontology (MONDO:0018473), read 2026-09-29. CC BY 4.0.
Features
26 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.
- Abnormality of the skinHPOHP:0000951
- Very frequent (80% to 99% of cases)
- Decreased circulating HDL-C concentrationHPOHP:0003233
- Very frequent (80% to 99% of cases)
- Elevated circulating LDL-C concentrationHPOHP:0003141
- Very frequent (80% to 99% of cases)
- HypercholesterolemiaHPOHP:0003124
- Very frequent (80% to 99% of cases)
- HypertriglyceridemiaHPOHP:0002155
- Very frequent (80% to 99% of cases)
- Corneal arcusHPOHP:0001084
- Frequent (30% to 79% of cases)
- Diabetes mellitusHPOHP:0000819
- Frequent (30% to 79% of cases)
- Eruptive xanthomasHPOHP:0001013
- Frequent (30% to 79% of cases)
- Hepatic steatosisHPOHP:0001397
- Frequent (30% to 79% of cases)
- HepatomegalyHPOHP:0002240
- Frequent (30% to 79% of cases)
- Lipemia retinalisHPOHP:0000660
- Frequent (30% to 79% of cases)
- ObesityHPOHP:0001513
- Frequent (30% to 79% of cases)
Show the remaining 14
- Tendon xanthomatosisHPOHP:0010874
- Frequent (30% to 79% of cases)
- Tuberous xanthomaHPOHP:0031290
- Frequent (30% to 79% of cases)
- Type IV atherosclerotic lesionHPOHP:0002635
- Frequent (30% to 79% of cases)
- XanthelasmaHPOHP:0001114
- Frequent (30% to 79% of cases)
- Xanthomas of the palmar creasesHPOHP:0025530
- Frequent (30% to 79% of cases)
- Accelerated atherosclerosisHPOHP:0004943
- Occasional (5% to 29% of cases)
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.
- APOEHGNC:613
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
9 names
Resolves to: hyperlipoproteinemia type 3
- Also called
- Broad-betalipoproteinemiadyslipidaemia type 3dyslipidemia type 3familial dysbetalipoproteinemiafamilial hyperlipoproteinemia type 3HLP type 3hyperlipidemia type 3hyperlipoproteinemia type IIIremnant disease