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GENATLAS PHENOTYPE

last update : 17-12-2011

Symbol	LPL
Location	8p22
Name	hyperlipoproteinemia, types I
Other name(s)	hyperlipoproteinemia types IA hyperchylomicronemia, familial hyperlipemia, idiopathic, Burger-Grutz type
Corresponding gene	LPL
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 premature atherosclerosis associated with reduced HDL cholesterol levels
Genetic determination	autosomal recessive
Function/system disorder	metabolism/lipoprotein-lipid
Type	disease

Gene product

Name	lipoprotein lipase (LPL)

Remark(s)

. 75p100 of mutations clustered in exons 5, 6, 25p100 G188E LPL-C418Y or LPL-E421K, are not transported across GPIHBP1-expressing endothelial cells (PMID: 21518912))

Genotype/Phenotype correlations

susceptibility gene for preeclampsia (variants N295S, D9N/93T->G)