Dominant dystrophic epidermolysis bullosa with absence of skin: genes and variants

Genes linked to Dominant dystrophic epidermolysis bullosa with absence of skin

• 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.

  12 disease-causing and 19 uncertain variants in COL7A1 are linked to Dominant dystrophic epidermolysis bullosa with absence of skin.

Where Dominant dystrophic epidermolysis bullosa with absence of skin variants cluster

• COL7A1 Triple-helical region (positions 1254–2784): 12 of 12 disease-causing changes, 1.9× more than its size predicts.

Known disease-causing variants in Dominant dystrophic epidermolysis bullosa with absence of skin

Which prediction tools work for Dominant dystrophic epidermolysis bullosa with absence of skin

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

• CADD: 94 out of 100
• phyloP: 92 out of 100
• PolyPhen-2: 89 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• SIFT: 87 out of 100

Same protein, different disease

• Epidermolysis bullosa dystrophica is also caused by COL7A1 variants; they fall mostly in different places as the Dominant dystrophic epidermolysis bullosa with absence of skin variants (64 disease-causing).
• Recessive dystrophic epidermolysis bullosa is also caused by COL7A1 variants; they fall mostly in different places as the Dominant dystrophic epidermolysis bullosa with absence of skin variants (53 disease-causing).
• Generalized dominant dystrophic epidermolysis bullosa is also caused by COL7A1 variants; they fall mostly in different places as the Dominant dystrophic epidermolysis bullosa with absence of skin variants (26 disease-causing).
• Nonsyndromic congenital nail disorder 8 is also caused by COL7A1 variants; they fall mostly in different places as the Dominant dystrophic epidermolysis bullosa with absence of skin variants (15 disease-causing).
• Transient bullous dermolysis of the newborn is also caused by COL7A1 variants; they fall mostly in different places as the Dominant dystrophic epidermolysis bullosa with absence of skin variants (10 disease-causing).

Diseases related to Dominant dystrophic epidermolysis bullosa with absence of skin

• 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
• 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 Dominant dystrophic epidermolysis bullosa with absence of skin?

In CATVariant, Dominant dystrophic epidermolysis bullosa with absence of skin is linked to 1 analyzed protein: COL7A1 (Collagen alpha-1(VII) chain).

How many genetic variants are linked to Dominant dystrophic epidermolysis bullosa with absence of skin?

33 variants: 12 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 19 are of uncertain significance or have conflicting reports.

Which uncertain variants in Dominant dystrophic epidermolysis bullosa with absence of skin 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 Dominant dystrophic epidermolysis bullosa with absence of skin?

Among tools not trained on clinical labels, CADD separates this disease's known disease-causing variants from harmless ones best (AUROC 0.94, based on 9 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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