Epidermolytic hyperkeratosis 2A, autosomal dominant: genes and variants
Epidermolytic hyperkeratosis 2A, autosomal dominant is linked to 2 analyzed proteins (KRT10 and KRT1). 11 DNA variants are known to cause it; 2 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Epidermolytic hyperkeratosis 1; epidermolytic hyperkeratosis 2B, autosomal recessive
Genes linked to Epidermolytic hyperkeratosis 2A, autosomal dominant
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.
7 disease-causing and 1 uncertain variants in KRT10 are linked to Epidermolytic hyperkeratosis 2A, autosomal dominant.
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.
4 disease-causing and 1 uncertain variants in KRT1 are linked to Epidermolytic hyperkeratosis 2A, autosomal dominant.
Where Epidermolytic hyperkeratosis 2A, autosomal dominant variants cluster
- KRT10 Coil 1A (positions 146–181): 5 of 7 disease-causing changes, 11.6× more than its size predicts.
Known disease-causing variants in Epidermolytic hyperkeratosis 2A, autosomal dominant
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KRT10 R156H | 156 | IF rod | Disease-causing (★★★★) |
| KRT1 L187F | 187 | IF rod | Disease-causing (★★) |
| KRT1 E478G | 478 | IF rod | Disease-causing (★) |
| KRT1 E478Q | 478 | IF rod | Disease-causing (★) |
| KRT1 L187P | 187 | IF rod | Disease-causing |
| KRT10 M150R | 150 | IF rod | Disease-causing |
| KRT10 N154H | 154 | IF rod | Disease-causing |
| KRT10 Y160D | 160 | IF rod | Disease-causing |
| KRT10 L161S | 161 | IF rod | Disease-causing |
| KRT10 K439E | 439 | IF rod | Disease-causing |
| KRT10 L442Q | 442 | IF rod | Disease-causing |
Which prediction tools work for Epidermolytic hyperkeratosis 2A, autosomal dominant
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- CATVariant: 100 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- PolyPhen-2: 100 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 96 out of 100
Same protein, different disease
- Annular epidermolytic ichthyosis is also caused by KRT1 variants; they fall partly in the same places as the Epidermolytic hyperkeratosis 2A, autosomal dominant variants (5 disease-causing).
- Epidermolytic ichthyosis is also caused by KRT1 variants; they fall mostly in different places as the Epidermolytic hyperkeratosis 2A, autosomal dominant variants (5 disease-causing).
Diseases related to Epidermolytic hyperkeratosis 2A, autosomal dominant
- Epidermolytic palmoplantar keratoderma, 1, 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
- 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 hyperkeratosis 2A, autosomal dominant?
In CATVariant, Epidermolytic hyperkeratosis 2A, autosomal dominant is linked to 2 analyzed proteins: KRT10 (Keratin, type I cytoskeletal 10) and KRT1 (Keratin, type II cytoskeletal 1).
How many genetic variants are linked to Epidermolytic hyperkeratosis 2A, autosomal dominant?
20 variants: 11 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 2 are of uncertain significance or have conflicting reports.
Which uncertain variants in Epidermolytic hyperkeratosis 2A, autosomal dominant look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
Which variant effect predictor works best for Epidermolytic hyperkeratosis 2A, autosomal dominant?
Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.96, based on 10 disease-causing and 35 harmless variants).
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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