Epidermolysis bullosa dystrophica: genes and variants

Genes linked to Epidermolysis bullosa dystrophica

• 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.

  64 disease-causing and 81 uncertain variants in COL7A1 are linked to Epidermolysis bullosa dystrophica.

Where Epidermolysis bullosa dystrophica variants cluster

• COL7A1 Triple-helical region (positions 1254–2784): 56 of 64 disease-causing changes, 1.7× more than its size predicts.
• COL7A1 BPTI/Kunitz inhibitor (positions 2872–2944): 3 of 64 disease-causing changes, 1.9× more than its size predicts.

Known disease-causing variants in Epidermolysis bullosa dystrophica

Showing 60 of 64.

Which prediction tools work for Epidermolysis bullosa dystrophica

How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).

• phyloP: 94 out of 100
• PolyPhen-2: 91 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• SIFT: 88 out of 100
• CADD: 87 out of 100

Same protein, different disease

• Recessive dystrophic epidermolysis bullosa is also caused by COL7A1 variants; they fall mostly in different places as the Epidermolysis bullosa dystrophica variants (53 disease-causing).
• Generalized dominant dystrophic epidermolysis bullosa is also caused by COL7A1 variants; they fall partly in the same places as the Epidermolysis bullosa dystrophica variants (26 disease-causing).
• Nonsyndromic congenital nail disorder 8 is also caused by COL7A1 variants; they fall partly in the same places as the Epidermolysis bullosa dystrophica variants (15 disease-causing).
• Dominant dystrophic epidermolysis bullosa with absence of skin is also caused by COL7A1 variants; they fall partly in the same places as the Epidermolysis bullosa dystrophica variants (12 disease-causing).
• Transient bullous dermolysis of the newborn is also caused by COL7A1 variants; they fall partly in the same places as the Epidermolysis bullosa dystrophica variants (10 disease-causing).

Diseases related to Epidermolysis bullosa dystrophica

• 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 pruriginosa, also linked to COL7A1
• Epidermolysis bullosa, also linked to COL7A1

Frequently asked questions

Which genes are linked to Epidermolysis bullosa dystrophica?

In CATVariant, Epidermolysis bullosa dystrophica is linked to 1 analyzed protein: COL7A1 (Collagen alpha-1(VII) chain).

How many genetic variants are linked to Epidermolysis bullosa dystrophica?

147 variants: 64 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 81 are of uncertain significance or have conflicting reports.

Which uncertain variants in Epidermolysis bullosa dystrophica 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 Epidermolysis bullosa dystrophica?

Among tools not trained on clinical labels, phyloP separates this disease's known disease-causing variants from harmless ones best (AUROC 0.94, based on 42 disease-causing and 198 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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