Epidermolysis Bullosa, Junctional 5b, with Pyloric Atresia (JEB5B)

Alias:
Junctional Epidermolysis Bullosa with Pyloric Atresia
Carmi Syndrome
Epidermolysis Bullosa, Junctional, with Pyloric Atresia
Jeb-Pa
Epidermolysis Bullosa Junctionalis with Pyloric Atresia
Aplasia Cutis Congenita with Gastrointestinal Atresia
Jeb5b
Epidermolysis Bullosa, Junctional, with Pyloric Atresia and Aplasia Cutis Congenita
Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome
Epidermolysis Bullosa Letalis, with Pyloric Atresia
Epidermolysis Bullosa with Pyloric Atresia
Jeb with Pyloric Atresia
Eb-Pa-Acc
Pa-Jeb
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epidermolysis Bullosa, Junctional 5b, with Pyloric Atresia, also known as junctional epidermolysis bullosa with pyloric atresia, is related to epidermolysis bullosa with pyloric atresia and epidermolysis bullosa, junctional 6, with pyloric atresia. An important gene associated with Epidermolysis Bullosa, Junctional 5b, with Pyloric Atresia is ITGB4 (Integrin Subunit Beta 4), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include skin and kidney, and related phenotypes are nausea and vomiting and intestinal atresia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
<1/1000000
20
184
39

Medical Symptom

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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

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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
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IF
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