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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 18/10/2008
Symbol APOC2
Location 19q13.2
Name hyperlipoproteinemia, type IB (CII deficiency)
Corresponding gene APOC2
Main clinical features
  • recurrent pancreatitis, which is thought to result from episodic pancreatic ischemia secondary to hyperchylomicronemia
  • mild to severe abdominal pain with nausea and vomiting, failure to thrive, hepatosplenomegaly, lipemia retinalis and eruptive xanthomata over extensor surfaces and buttocks
  • plasma lipid profiling typically shows extremely elevated fasting triglyceride levels above 10 mmol/L
  • Genetic determination autosomal recessive
    Related entries . including chylomicronemia with severe hypertriglyceridemia and accumulation of chylomicrons
    Function/system disorder metabolism/lipoprotein-lipid
    Type disease
    Gene product
    Name apolipoprotein C-II (APOC2)