Late-Onset Junctional Epidermolysis Bullosa

Alias:
Epidermolysis Bullosa Progressiva
Late-Onset Jeb
Jeb-Lo
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Late-Onset Junctional Epidermolysis Bullosa, also known as epidermolysis bullosa progressiva, is related to epidermolysis bullosa dystrophica neurotrophica and epidermolysis bullosa. An important gene associated with Late-Onset Junctional Epidermolysis Bullosa is COL17A1 (Collagen Type XVII Alpha 1 Chain). Affiliated tissues include skin and eye, and related phenotypes are abnormal blistering of the skin and nail dystrophy
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
1
10
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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
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IF
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