Details of Disease

General Information of Disease (ID: DISD362G)

• Disease Name: Epidermolysis bullosa simplex 1A, generalized severe
• Synonyms: epidermolysis bullosa simplex, generalized severe; epidermolysis bullosa simplex, generalised severe; Dowling-Meara type epidermolysis bullosa simplex; EBS-DM; epidermolysis bullosa herpetiformis, Dowling-Meara type; epidermolysis bullosa simplex, Dowling-Meara type; EBS-gen sev; epidermolysis bullosa simplex Dowling-Meara type; EBS, generalised severe; generalized severe epidermolysis bullosa simplex; EBSDM; epidermolysis bullosa simplex, herpetiformis; EBS, generalized severe; epidermolysis bullosa herpetiformis Dowling-Meara type; generalised severe epidermolysis bullosa simplex; epidermolysis bullosa simplex 1A, generalized severe
• Definition: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.
• Disease Hierarchy:
  DIS2CZ6X: Epidermolysis bullosa simplex
  DISD362G: Epidermolysis bullosa simplex 1A, generalized severe
• Disease Identifiers:
  MONDO ID: MONDO_0007550
  MESH ID: D016110
  UMLS CUI: C0079295
  OMIM ID: 131760
  MedGen ID: 38194
  Orphanet ID: 79396
  SNOMED CT ID: 254179000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NAT9	OT4ZKCRS	Strong	Genetic Variation	[1]
KRT14	OTUVZ1DW	Definitive	Autosomal dominant	[2]
KRT5	OTVGI9HT	Definitive	Autosomal dominant	[2]

References

• [1] An exvivo RNA trans-splicing strategy to correct human generalized severe epidermolysis bullosa simplex.Br J Dermatol. 2019 Jan;180(1):141-148. doi: 10.1111/bjd.17075. Epub 2018 Oct 7.
• [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.