Epidermolysis Bullosa Simplex 1c, Localized (EBS1C)

Alias:
Epidermolysis Bullosa of Hands and Feet
Ebs, Acral Form
Ebs1c
Epidermolysis Bullosa, Simplex, Simplex, Weber-Cockayne Type
Epidermolysis Bullosa Simplex 1c, Weber-Cockayne Type
Epidermolysis Bullosa Simplex, Weber-Cockayne Type
Epidermolysis Bullosa Simplex, Localized
Weber-Cockayne Syndrome
Wc-Ebs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epidermolysis Bullosa Simplex 1c, Localized, also known as epidermolysis bullosa of hands and feet, is related to epidermolysis bullosa simplex localized type and epidermolysis bullosa. An important gene associated with Epidermolysis Bullosa Simplex 1c, Localized is KRT14 (Keratin 14), and among its related pathways/superpathways are Cell junction organization and Glucocorticoid receptor regulatory network. The drugs Sirolimus and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include skin.
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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4
32
16

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

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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