You are using an outdated browser. Please upgrade your browser to improve your experience.

junctional epidermolysis bullosa with pyloric atresia

Disease Summary
Associated Targets (3)
Tbio

3


GARD Rare
Mondo Description 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.
Uniprot Description An autosomal recessive, frequently lethal, epidermolysis bullosa with variable involvement of skin, nails, mucosa, and with variable effects on the digestive system. It is characterized by mucocutaneous fragility, aplasia cutis congenita, and gastrointestinal atresia, which most commonly affects the pylorus. Pyloric atresia is a primary manifestation rather than a scarring process secondary to epidermolysis bullosa.
Disease Ontology Description A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes.
Mondo Term and Equivalent IDs
MONDO:0009183:  junctional epidermolysis bullosa with pyloric atresia
GARD:0009694: 
MESH:C535377: 
Orphanet:79403: 
UMLS:C1856934: