H01005 | |
H number | H01005 |
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 |
Network | nt06028(H01005) Dopamine and serotonin metabolism |
Gene | DBH [HSA:1621] [KO:K00503] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | Droxidopa [DR:D01277] |
Comment | - |
Other DBs | ICD-11: 5C59.00 ICD-10: G90.8 MeSH: C535600 OMIM: 223360 |
Reference | PMID:20301647 AUTHORS Robertson D, Garland EM TITLE Dopamine Beta-Hydroxylase Deficiency JOURNAL GeneReviews (1993) PMID:16722595 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 |