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Dopamine beta-hydroxylase deficiency

ORPHA230
Synonym(s) Noradrenaline deficiency
Norepinephrine deficiency
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • G90.8
OMIM
UMLS
  • C0342687
MeSH
  • C535600
MedDRA -

Summary

Disease definition

Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension.

Expert reviewer(s)

  • Pr Jean-Michel SENARD

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Detailed information

Clinical genetics review
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