epidermolysis bullosa, junctional 6, with pyloric atresia
MONDO:0859233Mondo
Findings
No curated finding names epidermolysis bullosa, junctional 6, with pyloric atresia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Neonatal death
HPO, annotations 2026-09-02
Features
9 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
- 2 of 2 reported patients
- Aplasia cutis congenita of scalpHPOHP:0007385
- 1 of 1 reported patient
- Aplasia cutis congenita on trunk or limbsHPOHP:0007589
- 1 of 1 reported patient · Congenital onset
- 1 of 1 reported patient
- Congenital pyloric atresiaHPOHP:0004399
- 1 of 1 reported patient · Congenital onset
- Esophageal stenosisHPOHP:0010450
- 1 of 1 reported patient
- Hypoplastic dermoepidermal hemidesmosomesHPOHP:0020117
- 1 of 1 reported patient
- Lamina lucida cleavageHPOHP:0003341
- 2 of 2 reported patients
- MicrotiaHPOHP:0008551
- 1 of 1 reported patient
- Oral mucosal blistersHPOHP:0200097
- 1 of 1 reported patient
Genes
1 gene
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
- Limited · G2P · Autosomal recessive · 2025
Where it sits
- A kind of