Features include always present findings: Hypertriglyceridemia, Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, and Enlarged spleen (splenomegaly) and others; and common findings: Lipemia retinalis, Enlarged liver (hepatomegaly), and Pancreatitis. 9 total HPO annotations.

APOC2 encodes apolipoprotein C2 (101 aa). Component of chylomicrons, very low-density lipoproteins (VLDL), low-density lipoproteins (LDL), and high-density lipoproteins (HDL) in plasma. Highest expression in Liver (1,789 TPM) and Brain Spinal cord cervical c-1 (26.6 TPM).

Familial apolipoprotein C-II deficiency is associated with mutations in the APOC2 gene on chromosome 19.

The APOC2 protein participates in Expression of APOC2 regulated by NR1H2 or NR1H3, APOA4,APOA5,APOC2,CIDEC,FGF21 genes express APOA4,APOA5,APOC2,CIDEC,FGF21 proteins, and Expression of APOC1 regulated by NR1H2 or NR1H3 pathways.

APOC2 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 2.1.

Genetic testing for APOC2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for familial apolipoprotein C-II deficiency has been reported in the published literature.

Phenotype severity distribution: 5 always present features, 3 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for familial apolipoprotein C-II deficiency.

93 publications have been identified in PubMed for familial apolipoprotein C-II deficiency. Research spans Case Report / Case Series (27%), Review / Meta-Analysis (20%), and Clinical Trial Publication (15%).