Details of Disease

General Information of Disease (ID: DIS3YOUO)

Disease Name Pretibial dystrophic epidermolysis bullosa
Synonyms dystrophic epidermolysis bullosa, pretibial; epidermolysis bullosa, pretibial; epidermolysis bullosa dystrophica, pretibial; Deb, pretibial; pretibial epidermolysis bullosa; pretibial DEB; DEB-Pt
Definition
Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region.
Disease Hierarchy
DISALMGH: Dystrophic epidermolysis bullosa
DIS3YOUO: Pretibial dystrophic epidermolysis bullosa
Disease Identifiers
MONDO ID
MONDO_0007552
MESH ID
C535494
UMLS CUI
C0432321
OMIM ID
131850
MedGen ID
98154
HPO ID
HP:0012221
Orphanet ID
79410
SNOMED CT ID
67653003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
COL7A1 TTBCOKN Strong Autosomal dominant [1]
COL7A1 TTBCOKN Strong Genetic Variation [2]
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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.
2 Splice site mutation in COL7A1 resulting in aberrant in-frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial.J Dermatol. 2018 Jun;45(6):742-745. doi: 10.1111/1346-8138.14271. Epub 2018 Mar 3.