Recessive dystrophic epidermolysis bullosa: genes and variants

Genes linked to Recessive 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.

  53 disease-causing and 58 uncertain variants in COL7A1 are linked to Recessive dystrophic epidermolysis bullosa.

Where Recessive dystrophic epidermolysis bullosa variants cluster

• COL7A1 Triple-helical region (positions 1254–2784): 49 of 53 disease-causing changes, 1.8× more than its size predicts.

Known disease-causing variants in Recessive dystrophic epidermolysis bullosa

Which prediction tools work for Recessive dystrophic epidermolysis bullosa

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

• PolyPhen-2: 96 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• phyloP: 96 out of 100
• SIFT: 89 out of 100
• CADD: 89 out of 100

Same protein, different disease

• Epidermolysis bullosa dystrophica is also caused by COL7A1 variants; they fall mostly in different places as the Recessive dystrophic epidermolysis bullosa variants (64 disease-causing).
• Generalized dominant dystrophic epidermolysis bullosa is also caused by COL7A1 variants; they fall partly in the same places as the Recessive 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 Recessive 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 Recessive dystrophic epidermolysis bullosa variants (12 disease-causing).
• Transient bullous dermolysis of the newborn is also caused by COL7A1 variants; they fall mostly in different places as the Recessive dystrophic epidermolysis bullosa variants (10 disease-causing).

Diseases related to Recessive dystrophic epidermolysis bullosa

• Epidermolysis bullosa dystrophica, 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 Recessive dystrophic epidermolysis bullosa?

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

How many genetic variants are linked to Recessive dystrophic epidermolysis bullosa?

155 variants: 53 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 58 are of uncertain significance or have conflicting reports.

Which uncertain variants in Recessive dystrophic epidermolysis bullosa 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 Recessive dystrophic epidermolysis bullosa?

Among tools not trained on clinical labels, phyloP separates this disease's known disease-causing variants from harmless ones best (AUROC 0.96, based on 26 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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