Dyskinesia with orofacial involvement: genes and variants
Dyskinesia with orofacial involvement is linked to 1 analyzed protein (ADCY5). 14 DNA variants are known to cause it; 27 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: dyskinesia with orofacial involvement, autosomal dominant; dyskinesia with orofacial involvement, autosomal recessive
Genes linked to Dyskinesia with orofacial involvement
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.
14 disease-causing and 27 uncertain variants in ADCY5 are linked to Dyskinesia with orofacial involvement.
Where Dyskinesia with orofacial involvement variants cluster
- ADCY5 Cytoplasmic (positions 395–769): 9 of 14 disease-causing changes, 2.2× more than its size predicts.
Known disease-causing variants in Dyskinesia with orofacial involvement
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ADCY5 R418Q | 418 | Cytoplasmic | Disease-causing (★★) |
| ADCY5 R418W | 418 | Cytoplasmic | Disease-causing (★★) |
| ADCY5 A726T | 726 | Cytoplasmic | Disease-causing (★★) |
| ADCY5 K691M | 691 | Cytoplasmic | Disease-causing (★) |
| ADCY5 K691E | 691 | Cytoplasmic | Disease-causing (★) |
| ADCY5 E1025A | 1025 | Cytoplasmic | Disease-causing (★) |
| ADCY5 E1025G | 1025 | Cytoplasmic | Disease-causing (★) |
| ADCY5 A441V | 441 | Cytoplasmic | Disease-causing (★) |
| ADCY5 I460F | 460 | Cytoplasmic | Disease-causing (★) |
| ADCY5 P527T | 527 | Guanylate cyclase 1 | Disease-causing (★) |
| ADCY5 D1015E | 1015 | Cytoplasmic | Disease-causing (★) |
| ADCY5 R412L | 412 | Cytoplasmic | Disease-causing (★) |
| ADCY5 Y233H | 233 | Disease-causing | |
| ADCY5 M1029K | 1029 | Cytoplasmic | Disease-causing |
Which prediction tools work for Dyskinesia with orofacial involvement
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- MetaLR: 99 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CATVariant: 97 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- PolyPhen-2: 95 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 72 out of 100
Diseases related to Dyskinesia with orofacial involvement
- Type 2 diabetes mellitus, also linked to ADCY5
- Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, also linked to ADCY5
Frequently asked questions
Which genes are linked to Dyskinesia with orofacial involvement?
In CATVariant, Dyskinesia with orofacial involvement is linked to 1 analyzed protein: ADCY5 (Adenylate cyclase type 5).
How many genetic variants are linked to Dyskinesia with orofacial involvement?
52 variants: 14 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 27 are of uncertain significance or have conflicting reports.
Which uncertain variants in Dyskinesia with orofacial involvement look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
Which variant effect predictor works best for Dyskinesia with orofacial involvement?
Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.72, based on 13 disease-causing and 35 harmless variants).
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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