Junctional Epidermolysis Bullosa (JEB)

Alias:
Epidermolysis Bullosa, Junctional
Jeb
Epidermolysis Bullosa Atrophicans
Congenital Junctional Epidermolysis Bullosa
Jeb - [junctional Epidermolysis Bullosa]
Junctional Eb - [epidermolysis Bullosa]
Lucidolytic Epidermolysis Bullosa
Epidermolysis Bullosa Junctional
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Junctional Epidermolysis Bullosa, also known as epidermolysis bullosa, junctional, is related to epidermolysis bullosa, junctional 1a, intermediate and epidermolysis bullosa, junctional 1b, severe. An important gene associated with Junctional Epidermolysis Bullosa is LAMC2 (Laminin Subunit Gamma 2), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. The drugs Gentamicins and Enzyme Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include skin and bone marrow, and related phenotypes are growth/size/body region and limbs/digits/tail
Related ID:
MESH:D016109
ICD11:1501260457

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
<1/1000000
44
344
145

Medical Symptom

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

Gene & Mutation

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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

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PMID
Journal
Year
IF
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