Epidermolysis bullosa, junctional 5A, intermediate: genes and variants
Epidermolysis bullosa, junctional 5A, intermediate is linked to 1 analyzed protein (ITGB4). 5 DNA variants are known to cause it; 250 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, junctional 5A, intermediate
ITGB4: Integrin beta-4
It pairs with alpha6 integrin in hemidesmosomes to anchor epithelial cells to laminin-rich basement membranes. Biallelic loss-of-function variants can cause junctional epidermolysis bullosa with pyloric atresia and severe epithelial fragility.
5 disease-causing and 250 uncertain variants in ITGB4 are linked to Epidermolysis bullosa, junctional 5A, intermediate.
Where Epidermolysis bullosa, junctional 5A, intermediate variants cluster
- ITGB4 Extracellular (positions 28–710): 3 of 5 disease-causing changes, 1.6× more than its size predicts.
Known disease-causing variants in Epidermolysis bullosa, junctional 5A, intermediate
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ITGB4 C61Y | 61 | PSI | Disease-causing (★★) |
| ITGB4 R252C | 252 | VWFA | Disease-causing (★★) |
| ITGB4 Y333D | 333 | Extracellular | Disease-causing (★★) |
| ITGB4 R1281W | 1281 | Fibronectin type-III 2 | Disease-causing (★★) |
| ITGB4 G931D | 931 | Cytoplasmic | Disease-causing |
Same protein, different disease
- Junctional epidermolysis bullosa with pyloric atresia is also caused by ITGB4 variants; they fall mostly in different places as the Epidermolysis bullosa, junctional 5A, intermediate variants (13 disease-causing).
Diseases related to Epidermolysis bullosa, junctional 5A, intermediate
- Junctional epidermolysis bullosa with pyloric atresia, also linked to ITGB4
- Fetal anomalies with a likely genetic cause, also linked to ITGB4
- Junctional epidermolysis bullosa, also linked to ITGB4
- Junctional epidermolysis bullosa, non-Herlitz type, also linked to ITGB4
Frequently asked questions
Which genes are linked to Epidermolysis bullosa, junctional 5A, intermediate?
In CATVariant, Epidermolysis bullosa, junctional 5A, intermediate is linked to 1 analyzed protein: ITGB4 (Integrin beta-4).
How many genetic variants are linked to Epidermolysis bullosa, junctional 5A, intermediate?
270 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 250 are of uncertain significance or have conflicting reports.
Which uncertain variants in Epidermolysis bullosa, junctional 5A, intermediate 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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