epidermolysis bullosa simplex 5C, with pyloric atresia
Findings
No curated finding names epidermolysis bullosa simplex 5C, with pyloric atresia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.
Definition from the Mondo Disease Ontology (MONDO:0012807), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal death · Fetal onset
HPO, annotations 2026-09-02
Features
34 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
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- Anteverted naresHPOHP:0000463
- 3 of 3 reported patients
- Aplasia cutis congenitaHPOHP:0001057
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Congenital pyloric atresiaHPOHP:0004399
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Deeply set eyeHPOHP:0000490
- 3 of 3 reported patients
- MacrocephalyHPOHP:0000256
- 3 of 3 reported patients
Show the remaining 22
- Fragile skinHPOHP:0001030
- Frequent (30% to 79% of cases)
- Lamina lucida cleavageHPOHP:0003341
- Frequent (30% to 79% of cases)
- Oral mucosal blistersHPOHP:0200097
- Frequent (30% to 79% of cases)
- Skin erosionHPOHP:0200041
- Frequent (30% to 79% of cases)
- Skin fragility with non-scarring blisteringHPOHP:0007585
- Frequent (30% to 79% of cases)
- VomitingHPOHP:0002013
- 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.
Where it sits
Other names
2 names
Resolves to: epidermolysis bullosa simplex 5C, with pyloric atresia
- Also called
- EBS-PAepidermolysis bullosa simplex with pyloric atresia