FB2026_02 , released June 18, 2026
Human Disease Model Report: epidermolysis bullosa simplex, generalized
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General Information
Name
epidermolysis bullosa simplex, generalized
FlyBase ID
FBhh0000856
Disease Ontology Term
Parent Disease
OMIM
EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE; EBS1B
Overview

This report describes epidermolysis bullosa simplex, generalized (also known as epidermolysis bullosa simplex, Koebner type), which is one of several forms of epidermolysis bullosa simplex associated with the human keratin genes KRT14 and KRT5. Information about fly models for this and related diseases can be found in the report 'epidermolysis bullosa simplex, keratin-related' (FBhh0000854).

[updated Jul. 2018 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: epidermolysis bullosa simplex, generalized
OMIM report

[EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE; EBS1B](https://omim.org/entry/131900)

Human gene(s) implicated

[KERATIN 14, TYPE I; KRT14](https://omim.org/entry/148066)

Symptoms and phenotype

Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous skin disorder characterized by recurrent blistering of the skin following minor physical trauma as a result of cytolysis within basal epidermal cells. [from MIM:131900; 2018.07.23]

(OMIM, 2013-)
Genetics

Generalized epidermolysis bullosa simplex (EBS), previously known as Koebner EBS, is caused by heterozygous mutation in either the keratin-5 (KRT5) or keratin-14 (KRT14) gene. [from MIM:131900; 2018.07.23]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
EBS
epidermolysis bullosa simplex, Koebner type
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
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        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
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        Transgene
        Publicly Available Stocks
        RNAi constructs available
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        Publicly Available Stocks
        Selected Drosophila classical alleles
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        Publicly Available Stocks
        References (2)