Details of Disease

General Information of Disease (ID: DIS7CHNM)

Disease Name Transient bullous dermolysis of the newborn
Synonyms
MONDON; dystrophic epidermolysis bullosa, neonatal; epidermolysis bullosa dystrophica, neonatal form; TBDN; epidermolysis bullosa dystrophica, dominant neonatal form; transient bullous of the newborn; DEB-BDN; DEB, bullous dermolysis of the newborn; transient bullous dermolysis of the newborn
Definition
Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.
Disease Hierarchy
DISALMGH: Dystrophic epidermolysis bullosa
DIS7CHNM: Transient bullous dermolysis of the newborn
Disease Identifiers
MONDO ID
MONDO_0007548
MESH ID
C536979
UMLS CUI
C1851573
OMIM ID
131705
MedGen ID
343607
Orphanet ID
79411
SNOMED CT ID
723553000

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 Biomarker [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 Epidermolysis bullosa pruriginosa: a case with prominent histopathologic inflammation.JAMA Dermatol. 2013 Jun;149(6):727-31. doi: 10.1001/jamadermatol.2013.155.