Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:230

Dopamine beta-hydroxylase deficiency

Also called DBH deficiency

Body system
Neurological diseases
Inheritance pattern
Autosomal recessive
Typical age of onset
Adolescent, Adult, Childhood, Infancy, Neonatal
Estimated prevalence
<1 / 1 000 000 (Worldwide)
Rarity class
<1 / 1 000 000

ORPHA:230 is classified under "Neurological diseases" in the Orphanet nomenclature.

Common signs

  • Orthostatic hypotension
  • Bilateral ptosis
  • Elevated urinary dopamine
  • Rhinitis
  • Syncope
  • Reduced tendon reflexes