Epidermolytic ichthyosis: genes and variants
Epidermolytic ichthyosis is linked to 2 analyzed proteins (KRT1 and KRT10). 5 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 Epidermolytic ichthyosis
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.
5 disease-causing and 8 uncertain variants in KRT1 are linked to Epidermolytic ichthyosis.
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 1 uncertain variants in KRT10 are linked to Epidermolytic ichthyosis.
Where Epidermolytic ichthyosis variants cluster
- KRT1 Coil 1A (positions 180–215): 3 of 5 disease-causing changes, 10.7× more than its size predicts.
Known disease-causing variants in Epidermolytic ichthyosis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KRT1 N188K | 188 | IF rod | Disease-causing (★★) |
| KRT1 N188I | 188 | IF rod | Disease-causing (★) |
| KRT1 V155D | 155 | Head | Disease-causing |
| KRT1 L208P | 208 | IF rod | Disease-causing |
| KRT1 E311Q | 311 | IF rod | Disease-causing |
Same protein, different disease
- Annular epidermolytic ichthyosis is also caused by KRT1 variants; they fall mostly in different places as the Epidermolytic ichthyosis variants (5 disease-causing).
Diseases related to Epidermolytic ichthyosis
- Epidermolytic palmoplantar keratoderma, 1, also linked to KRT1 and KRT10
- Epidermolytic hyperkeratosis 2A, autosomal dominant, also linked to KRT1 and KRT10
- Annular 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
- 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 ichthyosis?
In CATVariant, Epidermolytic ichthyosis is linked to 2 analyzed proteins: KRT1 (Keratin, type II cytoskeletal 1) and KRT10 (Keratin, type I cytoskeletal 10).
How many genetic variants are linked to Epidermolytic ichthyosis?
45 variants: 5 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 Epidermolytic ichthyosis 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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