Details of Disease

General Information of Disease (ID: DISQCPMC)

Disease Name Epidermolysis bullosa simplex 1C, localized
Synonyms
epidermolysis bullosa simplex, localised; EBS, acral form; epidermolysis bullosa of hands and feet; Weber-Cockayne syndrome; Weber-Cockayne type epidermolysis bullosa simplex; epidermolysis bullosa simplex, localized; EBS-loc; localized epidermolysis bullosa simplex; epidermolysis bullosa simplex, Weber-Cockayne type; epidermolysis bullosa simplex of palms and soles; epidermolysis bullosa simplex 1C, localized; localised epidermolysis bullosa simplex
Definition A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.
Disease Hierarchy
DIS2CZ6X: Epidermolysis bullosa simplex
DISQCPMC: Epidermolysis bullosa simplex 1C, localized
Disease Identifiers
MONDO ID
MONDO_0007551
MESH ID
D016110
UMLS CUI
C0080333
OMIM ID
131800
MedGen ID
87016
Orphanet ID
79400
SNOMED CT ID
294705005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
GALK1 DE3OP9S Limited Genetic Variation [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ITGB4 OT28UK84 Limited Unknown [2]
KRT14 OTUVZ1DW Strong Autosomal dominant [3]
KRT5 OTVGI9HT Strong Autosomal dominant [3]
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References

1 Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.J Invest Dermatol. 2002 Dec;119(6):1275-81. doi: 10.1046/j.1523-1747.2002.19609.x.
2 Heterozygosity for a Novel Missense Mutation in the ITGB4 Gene Associated With Autosomal Dominant Epidermolysis Bullosa. JAMA Dermatol. 2016 May 1;152(5):558-62. doi: 10.1001/jamadermatol.2015.5236.
3 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.