MeSH Browser

MeSH Supplementary: dopamine beta hydroxylase deficiency
Unique ID: C535600
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535600
Entry Term(s): Congenital dopamine beta hydroxylase deficiency; Dopamine beta Hydroxylase Deficiency, Congenital; Noradrenaline deficiency; Norepinephrine deficiency; dopamine b-hydroxylase; dopamine beta-hydroxylase deficiency
Registry Numbers: 0
Heading Mapped to: *Autonomic Nervous System Diseases; Dopamine beta-Hydroxylase / deficiency; Norepinephrine / deficiency
Frequency: 20
Note: 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 of Entry: 2010/08/25
Revision Date: 2016/09/29

dopamine beta hydroxylase deficiency MeSH Supplementary Concept Data 2025