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GENATLAS PHENOTYPE

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)

Remark(s)