Junctional epidermolysis bullosa - pyloric atresia: genes and variants
Explore variant evidence for Junctional epidermolysis bullosa - pyloric atresia across 2 analyzed proteins (ITGB4, ITGA6). Linked ClinVar records include 13 pathogenic or likely pathogenic variants, 238 variants of uncertain significance and 48 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Junctional epidermolysis bullosa - 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 ClinVar pathogenic / likely pathogenic and 286 uncertain variants in ITGB4 have source records linked to Junctional epidermolysis bullosa - pyloric atresia. Association strength is not clinical gene validity.
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 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in ITGA6 have source records linked to Junctional epidermolysis bullosa - pyloric atresia. Association strength is not clinical gene validity.
Where Junctional epidermolysis bullosa - pyloric atresia variants cluster
- ITGB4 Extracellular (positions 28–710): 9 of 13 ClinVar pathogenic / likely pathogenic variants, 1.9× more than its size predicts.
ClinVar pathogenic and likely pathogenic variants linked to Junctional epidermolysis bullosa - pyloric atresia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ITGB4 C61Y | 61 | PSI | Pathogenic / likely pathogenic (★★) |
| ITGB4 R252C | 252 | VWFA | Pathogenic / likely pathogenic (★★) |
| ITGB4 Y333D | 333 | Extracellular | Pathogenic / likely pathogenic (★★) |
| ITGB4 R283C | 283 | VWFA | Pathogenic / likely pathogenic (★★) |
| ITGB4 R1225H | 1225 | Fibronectin type-III 2 | Pathogenic / likely pathogenic (★★) |
| ITGB4 R1281W | 1281 | Fibronectin type-III 2 | Pathogenic / likely pathogenic (★★) |
| ITGB4 C671S | 671 | Extracellular | Pathogenic / likely pathogenic (★) |
| ITGB4 L822S | 822 | Cytoplasmic | Pathogenic / likely pathogenic (★) |
| ITGB4 G234V | 234 | VWFA | Pathogenic / likely pathogenic (★) |
| ITGB4 C457Y | 457 | I-EGF 1 | Pathogenic / likely pathogenic (★) |
| ITGB4 R1014W | 1014 | Calx-beta | Pathogenic / likely pathogenic (★) |
| ITGB4 C38R | 38 | PSI | Pathogenic / likely pathogenic |
| ITGB4 L156P | 156 | VWFA | Pathogenic / likely pathogenic |
Uncertain variants prioritized for review in Junctional epidermolysis bullosa - pyloric atresia
| 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 - pyloric atresia
Observed separation of ClinVar pathogenic / likely pathogenic from benign / likely benign variants (AUROC × 100). This benchmark is not a clinical recommendation.
- 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 - 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 have records linked to Junctional epidermolysis bullosa - pyloric atresia?
This view contains 2 analyzed proteins: ITGB4, ITGA6. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 13 pathogenic or likely pathogenic variants, 238 variants of uncertain significance and 48 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 1 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 351 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses 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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