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GENATLAS PHENOTYPE
last update : 26-02-2015
Symbol UDCA
Location 1q42.13
Name ubiquinone deficiency with cerebellar ataxia
Corresponding gene ADCK3
Other symbol(s) ARCA2, COQ10D4, SCAR9
Main clinical features
  • progressive neurological disorder with cerebellar atrophy and seizures
  • developmental delay, and hyperlactatemia, with reduced ubiquinone in muscle tissue
  • on brain MRI a severe cerebellar atrophy with stroke-like anomalies and hyperintensities on T2 and FLAIR
  • a low endogenous pool of CoQ10 in fibroblasts or lymphoblasts, with impaired ubiquinone synthesis
  • Genetic determination autosomal recessive
    Function/system disorder
    Type disease
    Remark(s)