Epidermolysis Bullosa Simplex (EBS)

Alias:
Ebs
Epidermolytic Epidermolysis Bullosa
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epidermolysis Bullosa Simplex, also known as ebs, is related to epidermolysis bullosa simplex 5b, with muscular dystrophy and autosomal dominant generalized epidermolysis bullosa simplex, intermediate form. An important gene associated with Epidermolysis Bullosa Simplex is KRT5 (Keratin 5), and among its related pathways/superpathways are Nervous system development and Collagen chain trimerization. The drugs Erythromycin and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include skin and skeletal muscle, and related phenotypes are growth/size/body region and digestive/alimentary
Related ID:
MESH:D016110
ICD11:1860717527

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
1-9/100000
35
481
151

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