Details of Disease

General Information of Disease (ID: DIS0EG3S)

• Disease Name: Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
• Synonyms: epidermolysis bullosa simplex, autosomal recessive 1; EBSB1; epidermolysis bullosa simplex, autosomal recessive K14; epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive; KRT14-related autosomal recessive EBS; EBS, autosomal recessive K14; EBS-AR KRT14; epidermolysis bullosa simplex, autosomal recessive type 1; KRT14-related epidermolysis bullosa simplex; KRT14-related autosomal recessive epidermolysis bullosa simplex
• Definition: A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering.
• Disease Hierarchy:
  DIS2CZ6X: Epidermolysis bullosa simplex
  DIS0EG3S: Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
• Disease Identifiers:
  MONDO ID: MONDO_0010976
  UMLS CUI: C3715082
  OMIM ID: 601001
  MedGen ID: 811576
  Orphanet ID: 89838

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KRT14	OTUVZ1DW	Strong	Autosomal recessive	[1]
KRT5	OTVGI9HT	Strong	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] PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2.