Annular epidermolytic ichthyosis: genes and variants
Annular epidermolytic ichthyosis is linked to 2 analyzed proteins (KRT1 and KRT10). 7 DNA variants are known to cause it; 0 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 Annular 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 0 uncertain variants in KRT1 are linked to Annular 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.
2 disease-causing and 0 uncertain variants in KRT10 are linked to Annular epidermolytic ichthyosis.
Known disease-causing variants in Annular epidermolytic ichthyosis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KRT1 I479T | 479 | IF rod | Disease-causing (★★) |
| KRT1 L485F | 485 | IF rod | Disease-causing (★★) |
| KRT1 S178P | 178 | Head | Disease-causing (★★) |
| KRT1 R179P | 179 | Head | Disease-causing (★★) |
| KRT1 N188K | 188 | IF rod | Disease-causing (★) |
| KRT10 L157R | 157 | IF rod | Disease-causing (★) |
| KRT10 R422E | 422 | IF rod | Disease-causing |
Same protein, different disease
- Epidermolytic ichthyosis is also caused by KRT1 variants; they fall mostly in different places as the Annular epidermolytic ichthyosis variants (5 disease-causing).
- Epidermolytic hyperkeratosis 2A, autosomal dominant is also caused by KRT10 variants; they fall partly in the same places as the Annular epidermolytic ichthyosis variants (7 disease-causing).
Diseases related to Annular epidermolytic ichthyosis
- Epidermolytic palmoplantar keratoderma, 1, also linked to KRT1 and KRT10
- Epidermolytic hyperkeratosis 2A, autosomal dominant, 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
- Congenital reticular ichthyosiform erythroderma, also linked to KRT10
- Diffuse nonepidermolytic palmoplantar keratoderma, also linked to KRT1
Frequently asked questions
Which genes are linked to Annular epidermolytic ichthyosis?
In CATVariant, Annular 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 Annular epidermolytic ichthyosis?
10 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in Annular 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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