Details of Disease

General Information of Disease (ID: DISALMGH)

Disease Name	Dystrophic epidermolysis bullosa
Synonyms	epidermolysis bullosa, dermolytic; epidermolysis bullosa dystrophica; dermolytic epidermolysis bullosa; DEB
Disease Class	EC32: Dystrophic epidermolysis bullosa
Definition	A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes.
Disease Hierarchy	DIS3PBSM: Inherited epidermolysis bullosa DISALMGH: Dystrophic epidermolysis bullosa
ICD Code	ICD-11 ICD-11: EC32 ICD-10 ICD-10: Q81.2 Expand ICD-11 'EC32 Expand ICD-10 'Q81.2
Disease Identifiers	MONDO ID MONDO_0006543 MESH ID D016108 UMLS CUI C0079294 MedGen ID 37179 Orphanet ID 303 SNOMED CT ID 254185007

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 4 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
KB103	DMPG277	Phase 2	NA	[1]
PTR-01	DMET2A5	Phase 2	Protein	[2]
EB-101	DMH2NKD	Phase 1/2	Vaccine	[3]
FCX-007	DMBHBJP	Phase 1/2	NA	[3]
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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	Disputed	Genetic Variation	[4]
MMP1	TTMX39J	Strong	Genetic Variation	[5]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GRIP1	OT958HK1	moderate	Biomarker	[6]
ERBIN	OTNWTUA8	Strong	Altered Expression	[7]
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References

1	ClinicalTrials.gov (NCT03536143) Topical Beremagene Geperpavec (KB103) Gene Therapy to Restore Functional Collagen VII for the Treatment of Dystrophic Epidermolysis Bullosa (GEM-1). U.S. National Institutes of Health.
2	ClinicalTrials.gov (NCT05143190) A Phase 2b Open-Label Study of PTR-01 in Recessive Dystrophic Epidermolysis Bullosa (RDEB) Patients Previously Treated With PTR-01 in Study PTR-01-002. U.S.National Institutes of Health.
3	Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
4	Phase 1/2a clinical trial of gene-corrected autologous cell therapy for recessive dystrophic epidermolysis bullosa.JCI Insight. 2019 Oct 3;4(19):e130554. doi: 10.1172/jci.insight.130554.
5	Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort.Br J Dermatol. 2009 Nov;161(5):1089-97. doi: 10.1111/j.1365-2133.2009.09333.x. Epub 2009 Jun 5.
6	Epidermolysis bullosa and embryonic lethality in mice lacking the multi-PDZ domain protein GRIP1.Proc Natl Acad Sci U S A. 2002 May 14;99(10):6816-21. doi: 10.1073/pnas.092130099. Epub 2002 Apr 30.
7	Disruption of ERBB2IP is not associated with dystrophic epidermolysis bullosa in both father and son carrying a balanced 5;13 translocation.J Invest Dermatol. 2005 Oct;125(4):700-4. doi: 10.1111/j.0022-202X.2005.23875.x.