Epidermolysis Bullosa, Junctional 1a, Intermediate (JEB1A)

Alias:
Jeb-I
Junctional Epidermolysis Bullosa Inversa
Jeb1a
Epidermolysis Bullosa, Junctional 1a, Generalized Intermediate
Junctional Epidermolysis Bullosa, Non-Herlitz Localized Type
Epidermolysis Bullosa, Junctional 1a, Non-Herlitz Type
Epidermolysis Bullosa Junctionalis, Non-Herlitz Type
Epidermolysis Bullosa Junctionalis, Severe Nonlethal
Epidermolysis Bullosa Atrophicans Generalisata Mitis
Epidermolysis Bullosa Junctionalis Severe Non-Lethal
Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Generalized Junctional Epidermolysis Bullosa Mitis
Junctional Epidermolysis Bullosa, Non-Herlitz Type
Epidermolysis Bullosa Junctionalis, Disentis Type
Generalized Atrophic Benign Epidermolysis Bullosa
Epidermolysis Bullosa Junctionalis Disentis Type
Epidermolysis Bullosa Junctionalis, Progressive
Epidermolysis Bullosa Junctionalis Progressive
Non-Herlitz Junctional Epidermolysis Bullosa
Localized Junctional Epidermolysis Bullosa
Epidermolysis Bullosa Inversa Dystrophica
Localized Jeb
Jeb Inversa
Jeb-Nh Loc
Gabeb
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epidermolysis Bullosa, Junctional 1a, Intermediate, also known as jeb-i, is related to epidermolysis bullosa, junctional 4, intermediate and intermediate generalized junctional epidermolysis bullosa. An important gene associated with Epidermolysis Bullosa, Junctional 1a, Intermediate is LAMB3 (Laminin Subunit Beta 3), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include skin and eye, and related phenotypes are carious teeth and abnormal blistering of the skin
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
6
36
47

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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