dopamine beta-hydroxylase deficiency

Term ID

DOID:0090145

Synonyms

• congenital dopamine beta-hydroxylase deficiency
• noradrenaline deficiency
• norepinephrine deficiency

Definition

An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34. (2)

References

• GARD:1903
• MESH:C535600
• OMIM:223360
• ORDO:230
• SNOMEDCT_US_2023_03_01:237923004
• UMLS_CUI:C0342687

Ontology

Human Disease   ( DOID:0090145 )