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GENATLAS PHENOTYPE
last update : 17-07-2018
Symbol CMDA
Location 3q26.33
Name cardiomyopathy, dilated with ataxia syndrome
Other name(s)
  • Barth syndrome-like
  • dilated cardiomyopathy with ataxia
  • 3-methylglutaconic aciduria, type V
  • Corresponding gene DNAJC19
    Other symbol(s) DCMA, MGCA5
    Main clinical features
  • characterised by early onset dilated cardiomyopathy with conduction defects, non-progressive cerebellar ataxia, testicular dysgenesis, growth failure, and 3-methylglutaconic aciduria
  • severe, early-onset dilated cardiomyopathy (sometimes accompanied by long QT syndrome), prenatal or postnatal growth failure, and cerebellar ataxia causing significant motor delays, genital anomalies secondary to testicular dysgenesis
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    cardiovascular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    abnormal splicing   abnormal protein/loss of function  
    Remark(s)