IEMbase 0101: DBH-related dopamine beta-hydroxylase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 101 |
| Nosology | 23.1.03.01 |
| Gene | DBH |
| External IDs | OMIM:223360 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | None; fuzzy candidate Congenital_Adrenal_Hyperplasia.yaml#11B-OHD is not valid |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as DBH-related dopamine beta-hydroxylase deficiency in the monoamine neurotransmission group. Treatability is marked yes, although the cached JSON has no treatment rows.
The biochemical signal is strong and specific: decreased CSF MHPG, increased plasma dopamine, very low plasma epinephrine and norepinephrine, increased CSF and urinary homovanillic acid, increased CSF and plasma L-dopa, decreased urinary VMA, very low plasma dopamine beta-hydroxylase, and low-to-normal plasma glucose in neonatal or infancy rows.
The clinical rows are behavioral disorder and syncope, with syncope becoming more prominent in adolescence and adulthood.
DisMech phenotype coverage
There is no valid local DBH deficiency target. The generated fuzzy candidate to
Congenital_Adrenal_Hyperplasia.yaml#11B-OHD is a beta-hydroxylase lexical
collision: 11-beta-hydroxylase congenital adrenal hyperplasia is a steroidogenic
adrenal disorder, not dopamine beta-hydroxylase deficiency.
The Disorder_of_Catecholamine_Synthesis.yaml umbrella includes AADC, TH,
recessive GTP cyclohydrolase I, sepiapterin reductase, and DNAJC12-related
monoamine synthesis disease, but it does not currently include a DBH subtype or
the norepinephrine/epinephrine-deficiency biochemical pattern.
Concordance and completeness
Judgement: true local gap.
IEMbase provides enough biochemical specificity to seed a future entry: dopamine is high while norepinephrine and epinephrine are very low, with low DBH enzyme activity and low VMA. DisMech currently has no place to capture that pattern except as a future expansion of monoamine/catecholamine disorder coverage.
Curation actions
- Do not map this record to congenital adrenal hyperplasia.
- Add a future standalone DBH deficiency entry or extend the catecholamine synthesis umbrella with a DBH subtype if that umbrella remains the preferred modeling level.
- Capture syncope/orthostatic-autonomic presentation and the distinctive plasma catecholamine profile when curated.