Details of Disease

General Information of Disease (ID: DIS4EGXJ)

Disease Name Epidermolysis bullosa simplex 2E, with migratory circinate erythema
Synonyms EBS-migr; epidermolysis bullosa simplex with migratory circinate erythema; epidermolysis bullosa simplex 2E, with migratory circinate erythema
Definition A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.
Disease Hierarchy
DIS2CZ6X: Epidermolysis bullosa simplex
DIS4EGXJ: Epidermolysis bullosa simplex 2E, with migratory circinate erythema
Disease Identifiers
MONDO ID
MONDO_0012258
MESH ID
C563730
UMLS CUI
C1836284
OMIM ID
609352
MedGen ID
324475
Orphanet ID
158681
SNOMED CT ID
716700003

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
KRT5 OTVGI9HT Supportive Autosomal dominant [1]
NAT9 OT4ZKCRS Strong Genetic Variation [2]
------------------------------------------------------------------------------------

References

1 A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema. J Invest Dermatol. 2003 Sep;121(3):482-5. doi: 10.1046/j.1523-1747.2003.12424.x.
2 T-lymphocytes are directly involved in the clinical expression of migratory circinate erythema in epidermolysis bullosa simplex patients.Acta Derm Venereol. 2014 May;94(3):307-11. doi: 10.2340/00015555-1691.