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GENATLAS PHENOTYPE
last update : 19-02-2010
Symbol LPPLD
Location 16p13.3
Name Lipoprotein lipase deficiency with severe hypertriglyceridemia
Corresponding gene LMF1
Main clinical features
  • hypertriglyceridemia, attack of pancreatitis, lipodystrophy progressing to complete involvement of limbs and buttocks, sparing her face and abdomen
  • hypertriglyceridemia due to LPL deficiency
  • concomitant-associated disorders as recurrent episodes of pancreatitis, tuberous xanthomas, and lipodystrophy
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/lipoprotein-lipid
    Type disease
    Remark(s)