Details of Disease

General Information of Disease (ID: DIS5QMS0)

• Disease Name: Junctional epidermolysis bullosa with pyloric atresia
• Synonyms: epidermolysis bullosa with pyloric atresia; epidermolysis bullosa JUNCTIONALIS with pyloric atresia; aplasia cutis congenita with gastrointestinal atresia; junctional epidermolysis bullosa - pyloric atresia; epidermolysis bullosa, junctional, with pyloric atresia; JEB-Pa; EB-Pa-ACC; epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita; JEB-PA; Carmi syndrome; epidermolysis bullosa, junctional, with pyloric stenosis; junctional epidermolysis bullosa with pyloric atresia; epidermolysis bullosa junctionalis with pyloric atresia; junctional epidermolysis bullosa-pyloric atresia syndrome
• 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.
• Disease Hierarchy:
  DISJRXWU: Junctional epidermolysis bullosa
  DIS5QMS0: Junctional epidermolysis bullosa with pyloric atresia
• Disease Identifiers:
  MONDO ID: MONDO_0009183
  UMLS CUI: C5676875
  OMIM ID: 226730
  MedGen ID: 1810975
  Orphanet ID: 79403

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ITGA6	TT165T3	Strong	Autosomal recessive	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ITGA6	OT3FA39C	Strong	Autosomal recessive	[1]
ITGB4	OT28UK84	Definitive	Autosomal recessive	[2]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [2] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.