Details of Disease | DrugMAP

General Information of Disease (ID: DISO1TKB)

Disease Name	Generalized dominant dystrophic epidermolysis bullosa
Synonyms	Albopapuloid dominant dystrophic epidermolysis bullosa; epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly); autosomal dominant dystrophic epidermolysis bullosa; DDEB; dominant dystrophic epidermolysis bullosa; epidermolysis bullosa dystrophica with subcorneal cleavage; epidermolysis bullosa dystrophica, Pasini type; epidermolysis bullosa dystrophica, autosomal dominant; dominant dystrophic epidermolysis bullosa, generalised; epidermolysis bullosa dystrophica, Pasini type (formerly); dominant dystrophic epidermolysis bullosa, generalized; dystrophic epidermolysis bullosa, autosomal dominant; epidermolysis bullosa dystrophica, Cockayne-Touraine type; DDEB, generalized; autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types; DDEB, generalised; DDEB, Pasini and Cockayne-Touraine types; DDEB-gen; epidermolysis bullosa dystrophica, AD
Definition	Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.
Disease Hierarchy	DISALMGH: Dystrophic epidermolysis bullosa DISO1TKB: Generalized dominant dystrophic epidermolysis bullosa
Disease Identifiers	MONDO ID MONDO_0007549 MESH ID C535956 UMLS CUI C0432322 OMIM ID 131750 MedGen ID 140935 Orphanet ID 231568 SNOMED CT ID 75875004

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	Multiple Milia as an Isolated Skin Manifestation of Dominant Dystrophic Epidermolysis Bullosa: Evidence of Phenotypic Variability.Pediatr Dermatol. 2017 Mar;34(2):e106-e108. doi: 10.1111/pde.13047. Epub 2016 Dec 23.