Pretibial dystrophic epidermolysis bullosa: genes and variants
Pretibial dystrophic epidermolysis bullosa is linked to 1 analyzed protein (COL7A1). 7 DNA variants are known to cause it; 24 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 Pretibial dystrophic 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.
7 disease-causing and 24 uncertain variants in COL7A1 are linked to Pretibial dystrophic epidermolysis bullosa.
Where Pretibial dystrophic epidermolysis bullosa variants cluster
- COL7A1 Triple-helical region (positions 1254–2784): 7 of 7 disease-causing changes, 1.9× more than its size predicts.
Known disease-causing variants in Pretibial dystrophic epidermolysis bullosa
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| COL7A1 G2009E | 2009 | Cell attachment site | Disease-causing (★★) |
| COL7A1 R2008G | 2008 | Cell attachment site | Disease-causing (★★) |
| COL7A1 G2647S | 2647 | Triple-helical region | Disease-causing (★★) |
| COL7A1 G1854R | 1854 | Triple-helical region | Disease-causing (★★) |
| COL7A1 R2745Q | 2745 | Triple-helical region | Disease-causing (★★) |
| COL7A1 G2701W | 2701 | 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 Pretibial dystrophic epidermolysis bullosa variants (64 disease-causing).
- Recessive dystrophic epidermolysis bullosa is also caused by COL7A1 variants; they fall mostly in different places as the Pretibial dystrophic 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 Pretibial dystrophic 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 Pretibial dystrophic 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 Pretibial dystrophic epidermolysis bullosa variants (12 disease-causing).
Diseases related to Pretibial dystrophic epidermolysis bullosa
- 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
- Epidermolysis bullosa pruriginosa, also linked to COL7A1
- Epidermolysis bullosa, also linked to COL7A1
Frequently asked questions
Which genes are linked to Pretibial dystrophic epidermolysis bullosa?
In CATVariant, Pretibial dystrophic epidermolysis bullosa is linked to 1 analyzed protein: COL7A1 (Collagen alpha-1(VII) chain).
How many genetic variants are linked to Pretibial dystrophic epidermolysis bullosa?
43 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 24 are of uncertain significance or have conflicting reports.
Which uncertain variants in Pretibial dystrophic 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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