X-linked distal spinal muscular atrophy type 3: genes and variants
X-linked distal spinal muscular atrophy type 3 is linked to 1 analyzed protein (ATP7A). 6 DNA variants are known to cause it; 462 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 X-linked distal spinal muscular atrophy type 3
ATP7A: Copper-transporting ATPase 1
It delivers copper to secretory-pathway enzymes and exports excess copper from cells, making it essential for systemic copper distribution. Loss-of-function variants cause Menkes disease or occipital horn syndrome, while some hypomorphic alleles produce distal motor neuropathy.
6 disease-causing and 462 uncertain variants in ATP7A are linked to X-linked distal spinal muscular atrophy type 3.
Known disease-causing variants in X-linked distal spinal muscular atrophy type 3
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ATP7A P1001L | 1001 | Transmembrane | Disease-causing (★★) |
| ATP7A K1037N | 1037 | Cytoplasmic | Disease-causing (★★) |
| ATP7A G727E | 727 | Transmembrane | Disease-causing (★) |
| ATP7A P1386S | 1386 | Transmembrane | Disease-causing (★) |
| ATP7A D859G | 859 | Cytoplasmic | Disease-causing |
| ATP7A A991D | 991 | Transmembrane | Disease-causing |
Same protein, different disease
- Menkes kinky-hair syndrome is also caused by ATP7A variants; they fall mostly in different places as the X-linked distal spinal muscular atrophy type 3 variants (29 disease-causing).
Diseases related to X-linked distal spinal muscular atrophy type 3
- Ehlers-Danlos syndrome, also linked to ATP7A
- Menkes kinky-hair syndrome, also linked to ATP7A
- Cutis laxa, also linked to ATP7A
Frequently asked questions
Which genes are linked to X-linked distal spinal muscular atrophy type 3?
In CATVariant, X-linked distal spinal muscular atrophy type 3 is linked to 1 analyzed protein: ATP7A (Copper-transporting ATPase 1).
How many genetic variants are linked to X-linked distal spinal muscular atrophy type 3?
663 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 462 are of uncertain significance or have conflicting reports.
Which uncertain variants in X-linked distal spinal muscular atrophy type 3 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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