OBO ID: DOID:0090145
Term Name: dopamine beta-hydroxylase deficiency Search Ontology:
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
is a type of:
OTHER dopamine beta-hydroxylase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DBH Orthostatic hypotension 1, due to DBH deficiency 223360
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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