Details of Disease

General Information of Disease (ID: DIS5RRZ4)

Disease Name Dystrophic epidermolysis bullosa pruriginosa
Synonyms epidermolysis bullosa pruriginosa; Deb, pruriginosa; DEB, pruriginosa; DEB-Pr; dystrophic epidermolysis bullosa pruriginosa; pruriginous dystrophic epidermolysis bullosa
Definition
Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.
Disease Hierarchy
DISALMGH: Dystrophic epidermolysis bullosa
DIS5RRZ4: Dystrophic epidermolysis bullosa pruriginosa
Disease Identifiers
MONDO ID
MONDO_0011398
MESH ID
C563192
UMLS CUI
C1275114
OMIM ID
604129
MedGen ID
266151
Orphanet ID
89843
SNOMED CT ID
403810008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
COL7A1 TTBCOKN Strong Autosomal dominant [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL7A1 OT3MIRZJ Strong Autosomal dominant [1]
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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.