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GENATLAS PHENOTYPE
last update : 28-10-2011
Symbol DBH
Location 9q34.2
Name dopamine beta- hydroxylase deficiency, congenital
Other name(s)
  • norepinephrine deficiency
  • noradrenaline deficiency
  • Corresponding gene DBH
    Main clinical features
  • characterized by congenital profound autonomic failure, undetectable, with orthostatic hypotension, ptosis, nasal stuffiness, and a neonatal history of delayed eye opening
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name dopamine beta-hydroxylase
    Remark(s) . a pharmacological chaperone, glycerol, significantly rescued defective trafficking of mutant DBH proteins , and disease could be treated by a pharmacological chaperone(s) (PMID: 21209083))