FB2026_03 , released September 17, 2026
Human Disease Model Report: epidermolysis bullosa simplex 1C, localized
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General Information
Name
epidermolysis bullosa simplex 1C, localized
FlyBase ID
FBhh0000855
Disease Ontology Term
Parent Disease
OMIM
EPIDERMOLYSIS BULLOSA SIMPLEX 1C, LOCALIZED; EBS1C
Overview

This report describes epidermolysis bullosa simplex 1C, localized (also known as epidermolysis bullosa simplex, Weber-Cockayne 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 1C, localized
OMIM report

[EPIDERMOLYSIS BULLOSA SIMPLEX 1C, LOCALIZED; EBS1C](https://omim.org/entry/131800)

Human gene(s) implicated

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

Symptoms and phenotype

Localized epidermolysis bullosa simplex-1C (EBS1C) is an autosomal dominant skin disorder with intraepidermal blistering after minor trauma mainly restricted to hands and feet beginning in infancy. Nails may be thick and dystrophic (summary by Has et al., 2020, pubmed:32017015). Localized epidermolysis bullosa simplex has previously been known as the Weber-Cockayne type. [from MIM:131800; 2026.07.21]

(OMIM, 2013-)
Genetics

Localized epidermolysis bullosa simplex-1C (EBS1C) is caused by heterozygous mutation in the keratin-14 gene on chromosome 17q21.

(OMIM, 2013-)

Another form of localized EBS, EBS2C (MIM:619594), is caused by heterozygous mutation in the KRT5 gene. [from MIM:131800; 2026.07.21]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
EBS
EBS1C
EBS, acral form
epidermolysis bullosa of hands and feet
epidermolysis bullosa simplex 1C, Weber-Cockayne type
epidermolysis bullosa simplex, localized
epidermolysis bullosa simplex, Weber-Cockayne 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)