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GENATLAS PHENOTYPE
last update : 07-07-2020
Symbol CMDTAF1AD
Location 1q41
Name cardiomyopathy, dilated with TAF1A defieciency
Corresponding gene TAF1A
Main clinical features
  • progressive myocardial disorder characterized by left ventricular dilation and systolic dysfunction, due to ribosomopathy as a cause for early-onset heart failure
  • patients in infancy developed idiopathic dilated cardiomyopathy (DCM) and underwent cardiac transplantation for end-stage heart failure
  • electron microscopy of explanted heart tissue from the affected patients revealed prototypic nucleolar segregation, indicative of perturbed TAF1A-dependent rRNA synthesis and nucleolar stress (PMID: 28472305))
  • Genetic determination autosomal recessive
    Function/system disorder cardiovascular
    Type disease
    Remark(s)