Parkinsonism-dystonia, infantile: genes and variants
Parkinsonism-dystonia, infantile is linked to 1 analyzed protein (SLC6A3). 1 DNA variants are known to cause it; 109 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Parkinsonism-dystonia, infantile
SLC6A3: Sodium-dependent dopamine transporter
It clears dopamine from the synaptic cleft back into presynaptic neurons and thereby controls the duration and intensity of dopamine signaling. Biallelic pathogenic variants cause dopamine-transporter deficiency syndrome with early dystonia and progressive parkinsonism.
1 disease-causing and 109 uncertain variants in SLC6A3 are linked to Parkinsonism-dystonia, infantile.
Known disease-causing variants in Parkinsonism-dystonia, infantile
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SLC6A3 G386R | 386 | Extracellular | Disease-causing (★) |
Same protein, different disease
- Classic dopamine transporter deficiency syndrome is also caused by SLC6A3 variants; they fall mostly in different places as the Parkinsonism-dystonia, infantile variants (3 disease-causing).
Diseases related to Parkinsonism-dystonia, infantile
- Alzheimer disease, also linked to SLC6A3
- Classic dopamine transporter deficiency syndrome, also linked to SLC6A3
Frequently asked questions
Which genes are linked to Parkinsonism-dystonia, infantile?
In CATVariant, Parkinsonism-dystonia, infantile is linked to 1 analyzed protein: SLC6A3 (Sodium-dependent dopamine transporter).
How many genetic variants are linked to Parkinsonism-dystonia, infantile?
115 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 109 are of uncertain significance or have conflicting reports.
Which uncertain variants in Parkinsonism-dystonia, infantile look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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