dopamine beta hydroxylase deficiency [Supplementary Concept]

A congenital syndrome caused by mutations in the dopamine beta-hydroxylase (DBH) gene. It is characterized by ORTHOSTATIC HYPOTENSION; frequent SYNCOPE especially following exercies, BLEPHAROPTOSIS; and delayed eye opening in affected neonates. Norepinephrine is greatly reduced in body fluids while dopamine is greatly increased. OMIM: 223360

Date introduced: August 25, 2010

MeSH Unique ID: C535600

Heading Mapped to:

• Autonomic Nervous System Diseases
• Dopamine beta-Hydroxylase/deficiency
• Norepinephrine/deficiency

Entry Terms:

• Noradrenaline deficiency
• Norepinephrine deficiency
• Congenital dopamine beta hydroxylase deficiency
• dopamine b-hydroxylase
• dopamine beta-hydroxylase deficiency
• Dopamine beta Hydroxylase Deficiency, Congenital