Epidermolysis bullosa simplex 2A, generalized severe: genes and variants
Epidermolysis bullosa simplex 2A, generalized severe is linked to 1 analyzed protein (KRT5). 2 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.
Genes linked to Epidermolysis bullosa simplex 2A, generalized severe
KRT5: Keratin, type II cytoskeletal 5
It pairs with keratin 14 to form the primary intermediate-filament scaffold of basal epidermal keratinocytes. Dominant pathogenic variants are a major cause of epidermolysis bullosa simplex, while other alleles can cause pigmentary disorders such as Dowling-Degos disease.
2 disease-causing and 2 uncertain variants in KRT5 are linked to Epidermolysis bullosa simplex 2A, generalized severe.
Known disease-causing variants in Epidermolysis bullosa simplex 2A, generalized severe
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KRT5 L175F | 175 | IF rod | Disease-causing |
| KRT5 E475G | 475 | IF rod | Disease-causing |
Same protein, different disease
- Epidermolysis bullosa simplex is also caused by KRT5 variants; they fall mostly in different places as the Epidermolysis bullosa simplex 2A, generalized severe variants (18 disease-causing).
- Epidermolysis bullosa simplex 2B, generalized intermediate is also caused by KRT5 variants; they fall partly in the same places as the Epidermolysis bullosa simplex 2A, generalized severe variants (5 disease-causing).
- Epidermolysis bullosa simplex 1C, localized is also caused by KRT5 variants; they fall mostly in different places as the Epidermolysis bullosa simplex 2A, generalized severe variants (3 disease-causing).
Diseases related to Epidermolysis bullosa simplex 2A, generalized severe
- Epidermolysis bullosa simplex, also linked to KRT5
- Epidermolysis bullosa simplex 1A, generalized severe, also linked to KRT5
- Epidermolysis bullosa simplex, Koebner type, also linked to KRT5
- Epidermolysis bullosa simplex 1C, localized, also linked to KRT5
- Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive, also linked to KRT5
- Epidermolysis bullosa simplex 2B, generalized intermediate, also linked to KRT5
- Epidermolysis bullosa, also linked to KRT5
- Dowling-Degos disease, also linked to KRT5
- Basal cell carcinoma, also linked to KRT5
- Epidermolysis bullosa simplex 2C, localized, also linked to KRT5
- Epidermolysis bullosa simplex with mottled pigmentation, also linked to KRT5
Frequently asked questions
Which genes are linked to Epidermolysis bullosa simplex 2A, generalized severe?
In CATVariant, Epidermolysis bullosa simplex 2A, generalized severe is linked to 1 analyzed protein: KRT5 (Keratin, type II cytoskeletal 5).
How many genetic variants are linked to Epidermolysis bullosa simplex 2A, generalized severe?
23 variants: 2 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 Epidermolysis bullosa simplex 2A, generalized severe 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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