Epidermolytic palmoplantar keratoderma, 1: genes and variants
Epidermolytic palmoplantar keratoderma, 1 is linked to 3 analyzed proteins (KRT9, KRT1 and KRT10). 12 DNA variants are known to cause it; 7 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 Epidermolytic palmoplantar keratoderma, 1
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.
12 disease-causing and 7 uncertain variants in KRT9 are linked to Epidermolytic palmoplantar keratoderma, 1.
KRT1: Keratin, type II cytoskeletal 1
It pairs with keratin 10 to provide mechanical resilience to suprabasal epidermal cells and help maintain the skin barrier. Dominant pathogenic variants cause epidermolytic ichthyosis and related palmoplantar keratoderma phenotypes.
0 disease-causing and 0 uncertain variants in KRT1 are linked to Epidermolytic palmoplantar keratoderma, 1.
KRT10: Keratin, type I cytoskeletal 10
It forms intermediate filaments with keratin 1 in differentiating epidermal keratinocytes, protecting the upper epidermis from mechanical stress. Dominant pathogenic variants cause epidermolytic ichthyosis, while specific mechanisms can produce ichthyosis with confetti.
0 disease-causing and 0 uncertain variants in KRT10 are linked to Epidermolytic palmoplantar keratoderma, 1.
Where Epidermolytic palmoplantar keratoderma, 1 variants cluster
- KRT9 Coil 1A (positions 153–188): 12 of 12 disease-causing changes, 17.3× more than its size predicts.
Known disease-causing variants in Epidermolytic palmoplantar keratoderma, 1
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KRT9 R163Q | 163 | IF rod | Disease-causing (★★★★) |
| KRT9 N161S | 161 | IF rod | Disease-causing (★★) |
| KRT9 N161K | 161 | IF rod | Disease-causing (★★) |
| KRT9 R163W | 163 | IF rod | Disease-causing (★★) |
| KRT9 R163L | 163 | IF rod | Disease-causing (★★) |
| KRT9 L160V | 160 | IF rod | Disease-causing |
| KRT9 L160F | 160 | IF rod | Disease-causing |
| KRT9 N161Y | 161 | IF rod | Disease-causing |
| KRT9 N161I | 161 | IF rod | Disease-causing |
| KRT9 V171M | 171 | IF rod | Disease-causing |
| KRT9 L168S | 168 | IF rod | Disease-causing |
| KRT9 Q172P | 172 | IF rod | Disease-causing |
Which prediction tools work for Epidermolytic palmoplantar keratoderma, 1
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- CATVariant: 99 out of 100 (learned from overlapping clinical labels, so this is optimistic)
Diseases related to Epidermolytic palmoplantar keratoderma, 1
- Epidermolytic hyperkeratosis 2A, autosomal dominant, also linked to KRT1 and KRT10
- Annular epidermolytic ichthyosis, also linked to KRT1 and KRT10
- Epidermolytic ichthyosis, also linked to KRT1 and KRT10
- Ichthyosis, annular epidermolytic 1, also linked to KRT1 and KRT10
- Pachyonychia congenita, also linked to KRT10
- Ichthyosis and erythrokeratoderma, also linked to KRT10
- Autosomal dominant epidermolytic ichthyosis, also linked to KRT10
- Epidermolytic nevus, also linked to KRT10
- Keratosis palmoplantaris striata 2, also linked to KRT1
- Palmoplantar keratoderma, epidermolytic, also linked to KRT9
- Congenital reticular ichthyosiform erythroderma, also linked to KRT10
- Diffuse nonepidermolytic palmoplantar keratoderma, also linked to KRT1
Frequently asked questions
Which genes are linked to Epidermolytic palmoplantar keratoderma, 1?
In CATVariant, Epidermolytic palmoplantar keratoderma, 1 is linked to 3 analyzed proteins: KRT9 (Keratin, type I cytoskeletal 9), KRT1 (Keratin, type II cytoskeletal 1) and KRT10 (Keratin, type I cytoskeletal 10).
How many genetic variants are linked to Epidermolytic palmoplantar keratoderma, 1?
23 variants: 12 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 7 are of uncertain significance or have conflicting reports.
Which uncertain variants in Epidermolytic palmoplantar keratoderma, 1 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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