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last update : 26-10-2016
Symbol LPCMD
Location 1p34.2
Name partial lipodystrophic syndrome with cardiomyopathy and diabetes
Corresponding gene ZMPSTE24
Main clinical features
  • severe metabolic syndrome and partial lipodystrophic syndrome associating hypertriglyceridemia, early onset type 2 diabetes, and android obesity with truncal and abdominal fat accumulation but without subcutaneous lipoatrophy
  • asoociated to acanthosis nigricans, liver steatosis, dilated cardiomyopathy
  • Genetic determination not applicable
    Function/system disorder metabolism/lipoprotein-lipid
    Type disease
  • altered lamina architecture observed in mutated fibroblasts are responsible for premature cellular senescence and could contribute to the phenotype observed in this patient (PMID: 27120622))