junctional epidermolysis bullosa with pyloric atresia
Findings
No curated finding names junctional epidermolysis bullosa with pyloric atresia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.
Definition from the Mondo Disease Ontology (MONDO:0009183), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset
HPO, annotations 2026-09-02
Features
25 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal blistering of the skinHPOHP:0008066
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Aplasia cutis congenita on trunk or limbsHPOHP:0007589
- 1 of 1 reported patient
- Congenital pyloric atresiaHPOHP:0004399
- 1 of 1 reported patient
- 4 of 5 reported patients · Congenital onset
- Very frequent (80% to 99% of cases)
- Hypoplastic dermoepidermal hemidesmosomesHPOHP:0020117
- 3 of 3 reported patients
- Lamina lucida cleavageHPOHP:0003341
- 2 of 2 reported patients
- Oral mucosal blistersHPOHP:0200097
Show the remaining 13
- HematuriaHPOHP:0000790
- Frequent (30% to 79% of cases)
- HydronephrosisHPOHP:0000126
- Frequent (30% to 79% of cases)
- PolyhydramniosHPOHP:0001561
- Frequent (30% to 79% of cases)
- Recurrent skin infectionsHPOHP:0001581
- Frequent (30% to 79% of cases)
- Renal duplicationHPOHP:0000075
- Frequent (30% to 79% of cases)
- Renal dysplasiaHPOHP:0000110
- Frequent (30% to 79% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ITGA6HGNC:6142
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- ITGB4HGNC:6158
- Definitive · Ambry Genetics · Autosomal recessive · 2017
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2019
- Strong · PanelApp Australia · Semidominant · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: junctional epidermolysis bullosa with pyloric atresia
- Also called
- Carmi syndromeepidermolysis bullosa junctionalis with pyloric atresiaepidermolysis bullosa, junctional, with pyloric stenosisJEB-PA