KEGG   DISEASE: Dopamine beta-hydroxylase deficiencyHelp
Entry
H01005                      Disease                                

Name
Dopamine beta-hydroxylase deficiency;
Norepinephrine deficiency;
Noradrenaline deficiency
Description
Dopamine beta-hydroxylase (DBH) deficiency is a very rare form of primary autonomic failure characterized by cardiovascular disorders and severe orthostatic hypotension. DBH deficiency is caused by a series of mutations in the DBH gene encoding the key enzyme in noradrenaline synthesis.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H01005  Dopamine beta-hydroxylase deficiency
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G90-G99  Other disorders of the nervous system
   G90  Disorders of autonomic nervous system
    H01005  Dopamine beta-hydroxylase deficiency
BRITE hierarchy
Pathway
hsa00350  Tyrosine metabolism
Gene
DBH [HSA:1621] [KO:K00503]
Drug
Droxidopa [DR:D01277]
Other DBs
ICD-10: G90.8
MeSH: C535600
OMIM: 223360
Reference
  Authors
Robertson D, Garland EM
  Title
Dopamine Beta-Hydroxylase Deficiency
  Journal
GeneReviews (1993)
Reference
  Authors
Senard JM, Rouet P
  Title
Dopamine beta-hydroxylase deficiency.
  Journal
Orphanet J Rare Dis 1:7 (2006)
DOI:10.1186/1750-1172-1-7

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