Diffuse nonepidermolytic palmoplantar keratoderma: genes and variants
Diffuse nonepidermolytic palmoplantar keratoderma is linked to 1 analyzed protein (KRT1). 1 DNA variants are known to cause it; 9 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 Diffuse nonepidermolytic palmoplantar keratoderma
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.
1 disease-causing and 9 uncertain variants in KRT1 are linked to Diffuse nonepidermolytic palmoplantar keratoderma.
Known disease-causing variants in Diffuse nonepidermolytic palmoplantar keratoderma
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KRT1 K74I | 74 | Head | Disease-causing |
Same protein, different disease
- Annular epidermolytic ichthyosis is also caused by KRT1 variants; they fall mostly in different places as the Diffuse nonepidermolytic palmoplantar keratoderma variants (5 disease-causing).
- Epidermolytic ichthyosis is also caused by KRT1 variants; they fall mostly in different places as the Diffuse nonepidermolytic palmoplantar keratoderma variants (5 disease-causing).
Diseases related to Diffuse nonepidermolytic palmoplantar keratoderma
- Epidermolytic palmoplantar keratoderma, 1, also linked to KRT1
- Epidermolytic hyperkeratosis 2A, autosomal dominant, also linked to KRT1
- Annular epidermolytic ichthyosis, also linked to KRT1
- Epidermolytic ichthyosis, also linked to KRT1
- Keratosis palmoplantaris striata 2, also linked to KRT1
- Ichthyosis, annular epidermolytic 1, also linked to KRT1
Frequently asked questions
Which genes are linked to Diffuse nonepidermolytic palmoplantar keratoderma?
In CATVariant, Diffuse nonepidermolytic palmoplantar keratoderma is linked to 1 analyzed protein: KRT1 (Keratin, type II cytoskeletal 1).
How many genetic variants are linked to Diffuse nonepidermolytic palmoplantar keratoderma?
16 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 9 are of uncertain significance or have conflicting reports.
Which uncertain variants in Diffuse nonepidermolytic palmoplantar keratoderma 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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