Epidermolysis Bullosa Simplex 1b, Generalized Intermediate (EBS1B)

Alias:
Epidermolysis Bullosa Simplex, Koebner Type
Ebs1b
Epidermolysis Bullosa Simplex 1b, Koebner Type
Epidermolysis Bullosa Simplex 2
Ebs Generalized
K-Ebs
Ebs2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epidermolysis Bullosa Simplex 1b, Generalized Intermediate, also known as epidermolysis bullosa simplex, koebner type, is related to epidermolysis bullosa simplex generalized type and autosomal dominant generalized epidermolysis bullosa simplex, intermediate form. An important gene associated with Epidermolysis Bullosa Simplex 1b, Generalized Intermediate is KRT14 (Keratin 14), and among its related pathways/superpathways are Glucocorticoid receptor regulatory network and Validated transcriptional targets of deltaNp63 isoforms. Affiliated tissues include skin and prostate, and related phenotypes are abnormal blistering of the skin and suprabasal cleavage
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
--
3
26
19

Medical Symptom

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

Gene & Mutation

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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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