Epidermolysis bullosa: genes and variants
Epidermolysis bullosa is linked to 2 analyzed proteins (KRT5 and COL7A1). 3 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 Epidermolysis bullosa
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 0 uncertain variants in KRT5 are linked to Epidermolysis bullosa.
COL7A1: Collagen alpha-1(VII) chain
It forms anchoring fibrils that secure the epidermal basement membrane to the underlying dermis. Pathogenic variants cause dystrophic epidermolysis bullosa, with skin fragility and scarring ranging from localized disease to severe generalized forms with major complications.
1 disease-causing and 0 uncertain variants in COL7A1 are linked to Epidermolysis bullosa.
Weakly linked (only a few uncertain records): ITGA6 and LAMB3.
Known disease-causing variants in Epidermolysis bullosa
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| COL7A1 G2006A | 2006 | Triple-helical region | Disease-causing (★★) |
| KRT5 R331H | 331 | IF rod | Disease-causing (★★) |
| KRT5 K199M | 199 | 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 variants (18 disease-causing).
- Epidermolysis bullosa simplex 2B, generalized intermediate is also caused by KRT5 variants; they fall mostly in different places as the Epidermolysis bullosa 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 variants (3 disease-causing).
- Epidermolysis bullosa dystrophica is also caused by COL7A1 variants; they fall mostly in different places as the Epidermolysis bullosa variants (64 disease-causing).
- Recessive dystrophic epidermolysis bullosa is also caused by COL7A1 variants; they fall mostly in different places as the Epidermolysis bullosa variants (53 disease-causing).
- Generalized dominant dystrophic epidermolysis bullosa is also caused by COL7A1 variants; they fall mostly in different places as the Epidermolysis bullosa variants (26 disease-causing).
- Nonsyndromic congenital nail disorder 8 is also caused by COL7A1 variants; they fall mostly in different places as the Epidermolysis bullosa variants (15 disease-causing).
- Dominant dystrophic epidermolysis bullosa with absence of skin is also caused by COL7A1 variants; they fall mostly in different places as the Epidermolysis bullosa variants (12 disease-causing).
Diseases related to Epidermolysis bullosa
- Epidermolysis bullosa simplex 1A, generalized severe, also linked to COL7A1 and KRT5
- Epidermolysis bullosa dystrophica, also linked to COL7A1
- Recessive dystrophic epidermolysis bullosa, also linked to COL7A1
- Generalized dominant dystrophic epidermolysis bullosa, also linked to COL7A1
- Epidermolysis bullosa simplex, also linked to KRT5
- Nonsyndromic congenital nail disorder 8, also linked to COL7A1
- Dominant dystrophic epidermolysis bullosa with absence of skin, also linked to COL7A1
- Transient bullous dermolysis of the newborn, also linked to COL7A1
- Epidermolysis bullosa simplex, Koebner type, also linked to KRT5
- Epidermolysis bullosa simplex 1C, localized, also linked to KRT5
- Pretibial dystrophic epidermolysis bullosa, also linked to COL7A1
- Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive, also linked to KRT5
Frequently asked questions
Which genes are linked to Epidermolysis bullosa?
In CATVariant, Epidermolysis bullosa is linked to 2 analyzed proteins: KRT5 (Keratin, type II cytoskeletal 5) and COL7A1 (Collagen alpha-1(VII) chain).
How many genetic variants are linked to Epidermolysis bullosa?
7 variants: 3 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 Epidermolysis bullosa 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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