Hyperlipidemia due to hepatic triglyceride lipase deficiency: genes and variants
Hyperlipidemia due to hepatic triglyceride lipase deficiency is linked to 1 analyzed protein (LIPC). 1 DNA variants are known to cause it; 28 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Hyperlipidemia due to hepatic triglyceride lipase deficiency
LIPC: Hepatic triacylglycerol lipase
It hydrolyzes triglycerides and phospholipids in HDL and remnant particles at the liver surface, helping remodel circulating lipoproteins. Loss-of-function variants can raise HDL cholesterol and alter remnant metabolism, with variable effects on atherosclerotic risk.
1 disease-causing and 28 uncertain variants in LIPC are linked to Hyperlipidemia due to hepatic triglyceride lipase deficiency.
Known disease-causing variants in Hyperlipidemia due to hepatic triglyceride lipase deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| LIPC A195T | 195 | Disease-causing |
Diseases related to Hyperlipidemia due to hepatic triglyceride lipase deficiency
- Type 2 diabetes mellitus, also linked to LIPC
- Age related macular degeneration 9, also linked to LIPC
Frequently asked questions
Which genes are linked to Hyperlipidemia due to hepatic triglyceride lipase deficiency?
In CATVariant, Hyperlipidemia due to hepatic triglyceride lipase deficiency is linked to 1 analyzed protein: LIPC (Hepatic triacylglycerol lipase).
How many genetic variants are linked to Hyperlipidemia due to hepatic triglyceride lipase deficiency?
35 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 28 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hyperlipidemia due to hepatic triglyceride lipase deficiency look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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