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Human Disease

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
Ontology
Human Disease   ( DOID:0090145 )
Relationships
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Genes Involved
Zebrafish Models