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GENATLAS PHENOTYPE
last update : 31-05-2019
Symbol NLSDM
Location 11p15.5
Name neutral lipid storage disease without ichthyosis but with mild myopathy
Corresponding gene PNPLA2
Main clinical features
  • multisystem triglyceride storage and myopathy, inconstantly associated with delays in walking, variable cardiac abnormalities, and hepatomegaly
  • exercise intolerance and proximal limb weakness, elevated CK levels, and Jordanís anomaly; at muscle biopsies, marked neutral lipid accumulation
  • lipid storage myopathy that can be clinically silent in childhood and presenting only with hyperCKemia (PMID: 23146629))
  • cardiomyopathy was lethal in some patients or necessitated cardiac transplantation in young patients, but older NLSDM patients have been described with less severe cardiac involvement (PMID: 22990388))
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    metabolism/lipoprotein-lipid
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   truncated protein truncated PNPLA2 protein lacking the C-terminal hydrophobic domain (Campagna 2008)
    Remark(s)
  • most of the reported ATGL mutations that cause NLSDM result in truncated proteins with an unaltered catalytic site, but with defects in the C-terminus region which binds to lipid droplets (LDs) (PMID: 22990388))