Junctional epidermolysis bullosa with pyloric atresia: genes and variants
Junctional epidermolysis bullosa with pyloric atresia is linked to 2 analyzed proteins (ITGB4 and ITGA6). 13 DNA variants are known to cause it; 286 more are uncertain, and 1 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Junctional epidermolysis bullosa with pyloric atresia
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.
13 disease-causing and 286 uncertain variants in ITGB4 are linked to Junctional epidermolysis bullosa with pyloric atresia.
ITGA6: Integrin alpha-6
It pairs with beta integrin subunits to mediate adhesion to laminins in epithelial basement membranes and other tissues. Biallelic pathogenic variants can cause junctional epidermolysis bullosa with pyloric atresia or related epithelial-adhesion disorders.
0 disease-causing and 0 uncertain variants in ITGA6 are linked to Junctional epidermolysis bullosa with pyloric atresia.
Where Junctional epidermolysis bullosa with pyloric atresia variants cluster
- ITGB4 Extracellular (positions 28–710): 9 of 13 disease-causing changes, 1.9× more than its size predicts.
Known disease-causing variants in Junctional epidermolysis bullosa with pyloric atresia
| 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 R283C | 283 | VWFA | Disease-causing (★★) |
| ITGB4 R1225H | 1225 | Fibronectin type-III 2 | Disease-causing (★★) |
| ITGB4 R1281W | 1281 | Fibronectin type-III 2 | Disease-causing (★★) |
| ITGB4 C671S | 671 | Extracellular | Disease-causing (★) |
| ITGB4 L822S | 822 | Cytoplasmic | Disease-causing (★) |
| ITGB4 G234V | 234 | VWFA | Disease-causing (★) |
| ITGB4 C457Y | 457 | I-EGF 1 | Disease-causing (★) |
| ITGB4 R1014W | 1014 | Calx-beta | Disease-causing (★) |
| ITGB4 C38R | 38 | PSI | Disease-causing |
| ITGB4 L156P | 156 | VWFA | Disease-causing |
Uncertain variants in Junctional epidermolysis bullosa with pyloric atresia that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| ITGB4 R252S | 252 | VWFA | Uncertain (★) | +6: R252C at the same position is pathogenic; REVEL 0.948 |
Which prediction tools work for Junctional epidermolysis bullosa with pyloric atresia
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)
- REVEL: 94 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CATVariant: 93 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CADD: 88 out of 100
- SIFT: 83 out of 100
- phyloP: 72 out of 100
Diseases related to Junctional epidermolysis bullosa with pyloric atresia
- Fetal anomalies with a likely genetic cause, also linked to ITGB4
- Junctional epidermolysis bullosa, also linked to ITGB4
- Epidermolysis bullosa, junctional 5A, intermediate, also linked to ITGB4
- Junctional epidermolysis bullosa, non-Herlitz type, also linked to ITGB4
Frequently asked questions
Which genes are linked to Junctional epidermolysis bullosa with pyloric atresia?
In CATVariant, Junctional epidermolysis bullosa with pyloric atresia is linked to 2 analyzed proteins: ITGB4 (Integrin beta-4) and ITGA6 (Integrin alpha-6).
How many genetic variants are linked to Junctional epidermolysis bullosa with pyloric atresia?
348 variants: 13 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 286 are of uncertain significance or have conflicting reports.
Which uncertain variants in Junctional epidermolysis bullosa with pyloric atresia look disease-causing?
1 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example ITGB4 R252S. These are leads for expert review, not diagnoses.
Which variant effect predictor works best for Junctional epidermolysis bullosa with pyloric atresia?
Among tools not trained on clinical labels, CADD separates this disease's known disease-causing variants from harmless ones best (AUROC 0.88, based on 9 disease-causing and 44 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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