Details of Disease | DrugMAP

General Information of Disease (ID: DIS15AFN)

Disease Name	Epidermolysis bullosa simplex 5C, with pyloric atresia
Synonyms	EBSPA; EBS with pyloric atresia; epidermolysis bullosa simplex 5C, with pyloric atresia; epidermolysis bullosa simplex with pyloric atresia; EBS-PA
Definition	A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.
Disease Hierarchy	DIS2CZ6X: Epidermolysis bullosa simplex DIS15AFN: Epidermolysis bullosa simplex 5C, with pyloric atresia
Disease Identifiers	MONDO ID MONDO_0012807 MESH ID C567408 UMLS CUI C2677349 OMIM ID 612138 MedGen ID 436922 Orphanet ID 158684 SNOMED CT ID 716701004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ITGB4	OT28UK84	Supportive	Autosomal recessive	[1]
PLEC	OTU4XDEG	Strong	Autosomal recessive	[2]
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References

1	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
2	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.