Neurogenic scapuloperoneal syndrome, Kaeser type: genes and variants
Neurogenic scapuloperoneal syndrome, Kaeser type is linked to 1 analyzed protein (DES). 3 DNA variants are known to cause it; 23 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 Neurogenic scapuloperoneal syndrome, Kaeser type
DES: Desmin
Its desmin filaments mechanically integrate sarcomeres with the nucleus, mitochondria, and cell junctions in striated muscle. Pathogenic variants cause desmin-related myopathy and can produce cardiomyopathy, conduction disease, and skeletal-muscle weakness.
3 disease-causing and 23 uncertain variants in DES are linked to Neurogenic scapuloperoneal syndrome, Kaeser type.
Known disease-causing variants in Neurogenic scapuloperoneal syndrome, Kaeser type
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| DES L377P | 377 | IF rod | Disease-causing (★★) |
| DES H384R | 384 | IF rod | Disease-causing (★★) |
| DES L370P | 370 | IF rod | Disease-causing (★★) |
Same protein, different disease
- Desmin-related myofibrillar myopathy is also caused by DES variants; they fall mostly in different places as the Neurogenic scapuloperoneal syndrome, Kaeser type variants (37 disease-causing).
- Primary dilated cardiomyopathy is also caused by DES variants; they fall mostly in different places as the Neurogenic scapuloperoneal syndrome, Kaeser type variants (3 disease-causing).
Diseases related to Neurogenic scapuloperoneal syndrome, Kaeser type
- Dilated cardiomyopathy, also linked to DES
- Primary dilated cardiomyopathy, also linked to DES
- Desmin-related myofibrillar myopathy, also linked to DES
- Myofibrillar myopathy, also linked to DES
- Primary familial dilated cardiomyopathy, also linked to DES
- Arrhythmogenic right ventricular cardiomyopathy, also linked to DES
- Familial isolated dilated cardiomyopathy, also linked to DES
- Limb-girdle muscular dystrophy, also linked to DES
Frequently asked questions
Which genes are linked to Neurogenic scapuloperoneal syndrome, Kaeser type?
In CATVariant, Neurogenic scapuloperoneal syndrome, Kaeser type is linked to 1 analyzed protein: DES (Desmin).
How many genetic variants are linked to Neurogenic scapuloperoneal syndrome, Kaeser type?
30 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 23 are of uncertain significance or have conflicting reports.
Which uncertain variants in Neurogenic scapuloperoneal syndrome, Kaeser type 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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