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GENATLAS PHENOTYPE
last update : 13-07-2018
Symbol CMD1PP
Location 1p34.2
Name dilated cardiomyopathy 1PP
Corresponding gene PPCS
Main clinical features
  • dilated cardiomyopathy, with variable degree of severity and no neurodegeneration, often fatal in early childhood
  • Genetic determination autosomal recessive
    Function/system disorder cardiovascular
    Type disease
    Remark(s)
  • reduced cytosolic CoA concentration in PPCS-affected individuals may lead to a reduced synthesis of activated long-chain fatty acids in PPCS-affected individuals (PMID: 29754768))