Neurodevelopmental disorder with hyperkinetic movements and dyskinesia: genes and variants
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia is linked to 1 analyzed protein (ADCY5). 1 DNA variants are known to cause it; 4 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 Neurodevelopmental disorder with hyperkinetic movements and dyskinesia
ADCY5: Adenylate cyclase type 5
It generates cyclic AMP downstream of G-protein-coupled receptors and is particularly important in striatal and cardiac signaling. Gain-of-function and loss-of-function variants can both cause movement disorders, with ADCY5-related dyskinesia often featuring episodic chorea, dystonia, and nocturnal exacerbations.
1 disease-causing and 4 uncertain variants in ADCY5 are linked to Neurodevelopmental disorder with hyperkinetic movements and dyskinesia.
Known disease-causing variants in Neurodevelopmental disorder with hyperkinetic movements and dyskinesia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ADCY5 R1238W | 1238 | Cytoplasmic | Disease-causing |
Same protein, different disease
- Dyskinesia with orofacial involvement is also caused by ADCY5 variants; they fall mostly in different places as the Neurodevelopmental disorder with hyperkinetic movements and dyskinesia variants (14 disease-causing).
Diseases related to Neurodevelopmental disorder with hyperkinetic movements and dyskinesia
- Type 2 diabetes mellitus, also linked to ADCY5
- Dyskinesia with orofacial involvement, also linked to ADCY5
Frequently asked questions
Which genes are linked to Neurodevelopmental disorder with hyperkinetic movements and dyskinesia?
In CATVariant, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia is linked to 1 analyzed protein: ADCY5 (Adenylate cyclase type 5).
How many genetic variants are linked to Neurodevelopmental disorder with hyperkinetic movements and dyskinesia?
9 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 4 are of uncertain significance or have conflicting reports.
Which uncertain variants in Neurodevelopmental disorder with hyperkinetic movements and dyskinesia 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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