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dopamine beta-hydroxylase deficiency
Summary
- Synonym
-
- 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.
- Super Class
- inherited metabolic disorder nervous system disease
External Links
- Disease Ontology
- DOID:0090145
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 13162 | Slc6a3 | solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 | |
| 13166 | Dbh | dopamine beta hydroxylase | |
| 14828 | Hspa5 | heat shock protein 5 | |
| 20538 | Slc6a2 | solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 |
