Palmoplantar keratoderma, nonepidermolytic, focal 1: genes and variants
Palmoplantar keratoderma, nonepidermolytic, focal 1 is linked to 1 analyzed protein (KRT16). 6 DNA variants are known to cause it; 4 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 Palmoplantar keratoderma, nonepidermolytic, focal 1
KRT16: Keratin, type I cytoskeletal 16
It is induced in mechanically stressed and repairing epithelia and helps reinforce keratinocyte intermediate filaments. Dominant pathogenic variants can cause pachyonychia congenita and focal palmoplantar keratoderma with painful hyperkeratosis.
6 disease-causing and 4 uncertain variants in KRT16 are linked to Palmoplantar keratoderma, nonepidermolytic, focal 1.
Where Palmoplantar keratoderma, nonepidermolytic, focal 1 variants cluster
- KRT16 Coil 1A (positions 117–152): 6 of 6 disease-causing changes, 13.1× more than its size predicts.
Known disease-causing variants in Palmoplantar keratoderma, nonepidermolytic, focal 1
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KRT16 M121T | 121 | IF rod | Disease-causing (★★★★) |
| KRT16 N125S | 125 | IF rod | Disease-causing (★★) |
| KRT16 R127C | 127 | IF rod | Disease-causing (★★) |
| KRT16 R127G | 127 | IF rod | Disease-causing (★★) |
| KRT16 L124H | 124 | IF rod | Disease-causing (★★) |
| KRT16 N125K | 125 | IF rod | Disease-causing (★) |
Same protein, different disease
- Pachyonychia congenita is also caused by KRT16 variants; they fall in the same places as the Palmoplantar keratoderma, nonepidermolytic, focal 1 variants (12 disease-causing).
Diseases related to Palmoplantar keratoderma, nonepidermolytic, focal 1
- Pachyonychia congenita, also linked to KRT16
- Ichthyosis and erythrokeratoderma, also linked to KRT16
Frequently asked questions
Which genes are linked to Palmoplantar keratoderma, nonepidermolytic, focal 1?
In CATVariant, Palmoplantar keratoderma, nonepidermolytic, focal 1 is linked to 1 analyzed protein: KRT16 (Keratin, type I cytoskeletal 16).
How many genetic variants are linked to Palmoplantar keratoderma, nonepidermolytic, focal 1?
12 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 4 are of uncertain significance or have conflicting reports.
Which uncertain variants in Palmoplantar keratoderma, nonepidermolytic, focal 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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