FB2026_03 , released September 17, 2026
Human Disease Model Report: epidermolysis bullosa simplex 1B, generalized intermediate
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General Information
Name
epidermolysis bullosa simplex 1B, generalized intermediate
FlyBase ID
FBhh0000856
Disease Ontology Term
Parent Disease
OMIM
EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE; EBS1B
Overview

This report describes epidermolysis bullosa simplex 1B, generalized intermediate (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 July 2026 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: epidermolysis bullosa simplex 1B, generalized intermediate
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

Generalized intermediate epidermolysis bullosa simplex-1B (EBS1B) is an autosomal dominant disorder of skin in which intraepidermal blistering occurs after minor mechanical trauma. Skin blistering is generalized, begins at birth, and is worsened by heat, humidity, and sweating. The tendency to blistering diminishes in adolescence, when it may become localized to hands and feet. Intermediate EBS has previously been known as the Koebner type (summary by Has et al., 2020, pubmed:32017015). [from MIM:131900; 2026.07.21]

(OMIM, 2013-)
Genetics

Another form of generalized intermediate EBS, EBS2B (MIM:619588), is caused by mutation in the KRT5 gene. [from MIM:131900; 2026.07.21]

(OMIM, 2013-)

Generalized intermediate epidermolysis bullosa simplex-1B (EBS1B) is caused by heterozygous mutation in the KRT14 gene on chromosome 17q21.

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
EBS
EBS1B
epidermolysis bullosa simplex, generalized
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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        Publicly Available Stocks
        Selected Drosophila transgenes
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        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)