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apolipoprotein c-III deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

apolipoprotein c-III deficiency

MONDO:0013534

Also known as:hyperalphalipoproteinemia 2

Overview

GeneticsAPOC3 (chr 11)

ResearchLimited published research (2 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: Decreased LDL cholesterol concentration, Increased HDL cholesterol concentration, and Hypotriglyceridemia.

Organ System	Phenotype Count	Example Features
Digestive system	2	Decreased LDL cholesterol concentration, 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.

APOC3 encodes apolipoprotein C3 (99 aa). Component of triglyceride-rich very low density lipoproteins (VLDL) and high density lipoproteins (HDL) in plasma. Plays a multifaceted role in triglyceride homeostasis. Highest expression in Liver (7,600 TPM) and Small Intestine Terminal Ileum (105.6 TPM).

Apolipoprotein c-III deficiency is associated with mutations in the APOC3 gene on chromosome 11.

APOC3 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 1.9.

Diagnosis

Genetic testing for APOC3 is available. Testing is considered confirmatory for diagnosis.

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 apolipoprotein c-III deficiency.

2 publications have been identified in PubMed for apolipoprotein c-III deficiency. Research spans Case Report / Case Series (50%) and Gene Therapy / Novel Therapeutics (50%).

Recent Publications

Peng X (2025). [PMID: 39988193](https://pubmed.ncbi.nlm.nih.gov/39988193/). *J Lipid Res*. [Gene Therapy / Novel Therapeutics]
Larouche M (2025). [PMID: 40642335](https://pubmed.ncbi.nlm.nih.gov/40642335/). *JCEM Case Rep*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614028

GARD

Genetic and Rare Diseases Info Center

GARD:18076

Questions for Your Care Team

→Should I pursue genetic testing for APOC3, and what would the results mean for my family?
→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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apolipoprotein c-III deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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