Epidermolysis Bullosa Dystrophica (DEB)

Alias:
Dystrophic Epidermolysis Bullosa
Deb
Dermolytic Epidermolysis Bullosa
Dystrophic Eb - [epidermolysis Bullosa]
Epidermolysis Bullosa, Dystrophic
Epidermolysis Bullosa, Dermolytic
Epidermolysis Bullosa Dystrophic
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epidermolysis Bullosa Dystrophica, also known as dystrophic epidermolysis bullosa, is related to epidermolysis bullosa dystrophica, autosomal recessive and epidermolysis bullosa dystrophica, pretibial. An important gene associated with Epidermolysis Bullosa Dystrophica is COL7A1 (Collagen Type VII Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. The drugs Pregabalin and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include Dermis, skin and eye, and related phenotypes are growth/size/body region and immune system
Related ID:
MESH:D016108
ICD11:1060981106

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
1-9/1000000
32
271
147

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top