Dystonic disorder: genes and variants
Dystonic disorder is linked to 3 analyzed proteins (NPC1, ATP1A3 and DRD2). 2 DNA variants are known to cause it; 37 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 Dystonic disorder
NPC1: NPC intracellular cholesterol transporter 1
It moves cholesterol and other lipids out of late endosomes and lysosomes so they can be redistributed throughout the cell. Biallelic loss-of-function variants cause Niemann-Pick disease type C with progressive neurologic and visceral lipid-storage disease.
1 disease-causing and 1 uncertain variants in NPC1 are linked to Dystonic disorder.
ATP1A3: Sodium/potassium-transporting ATPase subunit alpha-3
It rapidly restores neuronal sodium and potassium gradients after repetitive firing, making it particularly important in highly active neurons. Pathogenic variants cause overlapping syndromes including alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, and CAPOS syndrome.
1 disease-causing and 0 uncertain variants in ATP1A3 are linked to Dystonic disorder.
DRD2: D(2) dopamine receptor
Its activation by dopamine modulates cyclic-AMP signaling and neuronal excitability in circuits governing movement, motivation, reward, and endocrine control. It is a major pharmacologic target of antipsychotic drugs and dopamine agonists, and rare variants can produce movement or neuropsychiatric phenotypes.
0 disease-causing and 36 uncertain variants in DRD2 are linked to Dystonic disorder.
Weakly linked (only a few uncertain records): GCH1.
Known disease-causing variants in Dystonic disorder
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ATP1A3 E815K | 815 | Cytoplasmic | Disease-causing (★★) |
| NPC1 L684F | 684 | SSD | Disease-causing (★) |
Same protein, different disease
- Niemann-Pick disease, type C1 is also caused by NPC1 variants; they fall mostly in different places as the Dystonic disorder variants (175 disease-causing).
- Niemann-Pick disease, type C is also caused by NPC1 variants; they fall mostly in different places as the Dystonic disorder variants (60 disease-causing).
- Alternating hemiplegia of childhood is also caused by ATP1A3 variants; they fall mostly in different places as the Dystonic disorder variants (23 disease-causing).
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome is also caused by ATP1A3 variants; they fall mostly in different places as the Dystonic disorder variants (18 disease-causing).
- ATP1A3-associated neurological disorder is also caused by ATP1A3 variants; they fall mostly in different places as the Dystonic disorder variants (4 disease-causing).
Diseases related to Dystonic disorder
- Niemann-Pick disease, type C1, also linked to NPC1
- Niemann-Pick disease, type A, also linked to NPC1
- Niemann-Pick disease, type C, also linked to NPC1
- Alternating hemiplegia of childhood, also linked to ATP1A3
- Sphingomyelin/cholesterol lipidosis, also linked to NPC1
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, also linked to ATP1A3
- Autism, also linked to DRD2
- ATP1A3-associated neurological disorder, also linked to ATP1A3
- Schizophrenia, also linked to DRD2
- Hereditary ataxia, also linked to ATP1A3
- Parkinson disease, also linked to DRD2
Frequently asked questions
Which genes are linked to Dystonic disorder?
In CATVariant, Dystonic disorder is linked to 3 analyzed proteins: NPC1 (NPC intracellular cholesterol transporter 1), ATP1A3 (Sodium/potassium-transporting ATPase subunit alpha-3) and DRD2 (D(2) dopamine receptor).
How many genetic variants are linked to Dystonic disorder?
43 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 37 are of uncertain significance or have conflicting reports.
Which uncertain variants in Dystonic disorder 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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