hyperlipidemia due to hepatic triglyceride lipase deficiency
Findings
No curated finding names hyperlipidemia due to hepatic triglyceride lipase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.
Definition from the Mondo Disease Ontology (MONDO:0013533), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
7 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.
- Elevated circulating HDL-C concentrationHPOHP:0012184
- 1 of 1 reported patient
- Obligate (100% of cases)
- HypercholesterolemiaHPOHP:0003124
- 3 of 3 reported patients
- HypertriglyceridemiaHPOHP:0002155
- 3 of 3 reported patients
- Obligate (100% of cases)
- Eruptive xanthomasHPOHP:0001013
- 1 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Angina pectorisHPOHP:0001681
- 1 of 2 reported patients
- Frequent (30% to 79% 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.
- LIPCHGNC:6619
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · PanelApp Australia · Semidominant · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2022
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
Other names
3 names
Resolves to: hyperlipidemia due to hepatic triglyceride lipase deficiency
- Also called
- hyperlipidemia due to hepatic lipase deficiencyhyperlipidemia due to HL deficiencyhyperlipidemia due to HTGL deficiency