Epidermolysis bullosa pruriginosa: genes and variants
Epidermolysis bullosa pruriginosa is linked to 1 analyzed protein (COL7A1). 4 DNA variants are known to cause it; 4 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 pruriginosa
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.
4 disease-causing and 4 uncertain variants in COL7A1 are linked to Epidermolysis bullosa pruriginosa.
Known disease-causing variants in Epidermolysis bullosa pruriginosa
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| COL7A1 G1922V | 1922 | Triple-helical region | Disease-causing (★) |
| COL7A1 G2701W | 2701 | Triple-helical region | Disease-causing (★) |
| COL7A1 G2719D | 2719 | Triple-helical region | Disease-causing (★) |
| COL7A1 G1890S | 1890 | Triple-helical region | Disease-causing (★) |
Same protein, different disease
- Epidermolysis bullosa dystrophica is also caused by COL7A1 variants; they fall mostly in different places as the Epidermolysis bullosa pruriginosa variants (64 disease-causing).
- Recessive dystrophic epidermolysis bullosa is also caused by COL7A1 variants; they fall mostly in different places as the Epidermolysis bullosa pruriginosa 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 pruriginosa 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 pruriginosa 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 pruriginosa variants (12 disease-causing).
Diseases related to Epidermolysis bullosa pruriginosa
- Epidermolysis bullosa dystrophica, also linked to COL7A1
- Recessive dystrophic epidermolysis bullosa, also linked to COL7A1
- Generalized dominant dystrophic epidermolysis bullosa, also linked to COL7A1
- 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 1A, generalized severe, also linked to COL7A1
- Pretibial dystrophic epidermolysis bullosa, also linked to COL7A1
- Epidermolysis bullosa, also linked to COL7A1
Frequently asked questions
Which genes are linked to Epidermolysis bullosa pruriginosa?
In CATVariant, Epidermolysis bullosa pruriginosa is linked to 1 analyzed protein: COL7A1 (Collagen alpha-1(VII) chain).
How many genetic variants are linked to Epidermolysis bullosa pruriginosa?
8 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 4 are of uncertain significance or have conflicting reports.
Which uncertain variants in Epidermolysis bullosa pruriginosa 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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