IEMbase 0103: SLC6A3-related dopamine transporter deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 103 |
| Nosology | 23.1.05.01 |
| Gene | SLC6A3 |
| External IDs | OMIM:613135; OMIM:126455 |
| Generated mapping | MAPPED |
| Candidate DisMech targets | Infantile_Parkinsonism-Dystonia.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as SLC6A3-related dopamine transporter deficiency, with alternate labels infantile parkinsonism-dystonia and DAT. Treatability is marked unknown and the cached JSON has no treatment rows.
The characteristic biochemical rows are increased CSF HVA/5-HIAA ratio, increased CSF homovanillic acid, and increased urinary homovanillic acid. The clinical rows are bulbar dysfunction, dyskinesia, dystonia, ocular flutter, and parkinsonism with hypokinetic features.
DisMech phenotype coverage
The generated mapping to Infantile_Parkinsonism-Dystonia.yaml is correct. The
local entry describes dopamine transporter deficiency syndrome caused by
biallelic SLC6A3 loss of function, impaired dopamine reuptake, dysregulated
synaptic dopamine homeostasis, raised CSF HVA:5-HIAA ratio, and progressive
nigrostriatal dysfunction.
Phenotype coverage includes parkinsonism-dystonia, dystonia, bradykinesia, rigidity, tremor, early hyperkinetic movement disorder, oculogyric crisis, axial hypotonia, delayed motor development, feeding difficulties, irritability, and decreased facial expression. Treatment coverage is broader than IEMbase: supportive care, tetrabenazine, benzodiazepines, dopamine agonists, physical therapy, and a note that levodopa is generally ineffective.
Concordance and completeness
Judgement: correct high-confidence mapping with high concordance.
IEMbase is more compact and emphasizes the diagnostic HVA/HVA:5-HIAA pattern and the bulbar/ocular-flutter rows. DisMech is richer for disease mechanism, progressive motor phenotype, treatment nuance, and the reason dopaminergic replacement is not analogous to synthesis-defect disorders.
Curation actions
- Keep
Infantile_Parkinsonism-Dystonia.yamlas the canonical target. - Consider adding urinary HVA and bulbar dysfunction or ocular flutter as review targets if the SLC6A3 entry is expanded.
- No mapping correction needed.