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hyperlipidemia due to hepatic triglyceride lipase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyperlipidemia due to hepatic triglyceride lipase deficiency

MONDO:0013533

Also known as:hyperlipidemia due to HL deficiencyhyperlipidemia due to HTGL deficiencyhyperlipidemia due to hepatic lipase deficiency

Overview

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.

GeneticsAutosomal recessive · LIPC (chr 15)

ResearchLimited published research (6 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Hypertriglyceridemia, Hypercholesterolemia, and Increased HDL cholesterol concentration; and common findings: Eruptive xanthomas, Corneal arcus, and Angina pectoris.

Organ System	Phenotype Count	Example Features
Digestive system	1	Increased HDL cholesterol concentration

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

LIPC encodes lipase C, hepatic type (499 aa). Catalyzes the hydrolysis of triglycerides and phospholipids present in circulating plasma lipoproteins, including chylomicrons, intermediate density lipoproteins (IDL), low density lipoproteins (LDL) of large size and high density lipoproteins (HDL), releasing free fatty acids (FFA) and smaller lipoprotein particles. Highest expression in Liver (26.8 TPM) and Nerve Tibial (5.5 TPM).

Hyperlipidemia due to hepatic triglyceride lipase deficiency is associated with mutations in the LIPC gene on chromosome 15.

LIPC is classified as a druggable target (Druggable Genome, Enzyme, Lipase, and Phospholipase categories) with score 8.7.

Diagnosis

Genetic testing for LIPC is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 3 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hyperlipidemia due to hepatic triglyceride lipase deficiency.

7 publications have been identified in PubMed for hyperlipidemia due to hepatic triglyceride lipase deficiency. Research spans Basic Science / Preclinical (67%), Review / Meta-Analysis (17%), and Gene Therapy / Novel Therapeutics (17%).

Recent Publications

Zhang X (2026). [PMID: 41787476](https://pubmed.ncbi.nlm.nih.gov/41787476/). *Lipids Health Dis*. [Gene Therapy / Novel Therapeutics]
Manojlovic M (2025). [PMID: 41343574](https://pubmed.ncbi.nlm.nih.gov/41343574/). *Biomol Biomed*. [Review / Meta-Analysis]
Sotin T (2025). [PMID: 40460236](https://pubmed.ncbi.nlm.nih.gov/40460236/). *Cardiovasc Res*. [Basic Science / Preclinical]
Gu Q (2025). [PMID: 39601316](https://pubmed.ncbi.nlm.nih.gov/39601316/). *FEBS Open Bio*. [Basic Science / Preclinical]
Wang Y (2025). [PMID: 40106311](https://pubmed.ncbi.nlm.nih.gov/40106311/). *Adv Sci (Weinh)*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614025

Orphanet

European rare disease database

Orphanet:140905

GARD

Genetic and Rare Diseases Info Center

GARD:12864

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hyperlipidemia due to hepatic triglyceride lipase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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