Palmoplantar keratoderma, epidermolytic: genes and variants
Palmoplantar keratoderma, epidermolytic is linked to 1 analyzed protein (KRT9). 2 DNA variants are known to cause it; 30 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: palmoplantar keratoderma, epidermolytic, 2
Genes linked to Palmoplantar keratoderma, epidermolytic
KRT9: Keratin, type I cytoskeletal 9
It is highly enriched in palm and sole epidermis and reinforces keratinocytes exposed to repetitive mechanical load. Dominant pathogenic variants cause epidermolytic palmoplantar keratoderma with thickening and fragility of palms and soles.
2 disease-causing and 28 uncertain variants in KRT9 are linked to Palmoplantar keratoderma, epidermolytic.
Weakly linked (only a few uncertain records): KRT1 and KRT16.
Known disease-causing variants in Palmoplantar keratoderma, epidermolytic
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KRT9 N161K | 161 | IF rod | Disease-causing (★★) |
| KRT9 Y167S | 167 | IF rod | Disease-causing (★) |
Same protein, different disease
- Epidermolytic palmoplantar keratoderma, 1 is also caused by KRT9 variants; they fall partly in the same places as the Palmoplantar keratoderma, epidermolytic variants (12 disease-causing).
Diseases related to Palmoplantar keratoderma, epidermolytic
- Epidermolytic palmoplantar keratoderma, 1, also linked to KRT9
Frequently asked questions
Which genes are linked to Palmoplantar keratoderma, epidermolytic?
In CATVariant, Palmoplantar keratoderma, epidermolytic is linked to 1 analyzed protein: KRT9 (Keratin, type I cytoskeletal 9).
How many genetic variants are linked to Palmoplantar keratoderma, epidermolytic?
49 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 30 are of uncertain significance or have conflicting reports.
Which uncertain variants in Palmoplantar keratoderma, epidermolytic 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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