Localized epidermolysis bullosa simplex: genes and variants
Explore variant evidence for Localized epidermolysis bullosa simplex across 2 analyzed proteins (KRT14, KRT5). Linked ClinVar records include 7 pathogenic or likely pathogenic variants, 2 variants of uncertain significance and 0 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Localized epidermolysis bullosa simplex
KRT14: Keratin, type I cytoskeletal 14
It pairs with keratin 5 to provide mechanical strength to basal epidermal keratinocytes. Dominant-negative variants are a major cause of epidermolysis bullosa simplex, while other variants can cause pigmentation disorders or ectodermal phenotypes.
4 ClinVar pathogenic / likely pathogenic and 1 uncertain variants in KRT14 have source records linked to Localized epidermolysis bullosa simplex. Association strength is not clinical gene validity.
KRT5: Keratin, type II cytoskeletal 5
It pairs with keratin 14 to form the primary intermediate-filament scaffold of basal epidermal keratinocytes. Dominant pathogenic variants are a major cause of epidermolysis bullosa simplex, while other alleles can cause pigmentary disorders such as Dowling-Degos disease.
3 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in KRT5 have source records linked to Localized epidermolysis bullosa simplex. Association strength is not clinical gene validity.
Weakly linked (only a few uncertain records): ITGB4.
ClinVar pathogenic and likely pathogenic variants linked to Localized epidermolysis bullosa simplex
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KRT14 V133M | 133 | IF rod | Pathogenic / likely pathogenic (★★) |
| KRT5 I161S | 161 | Head | Pathogenic / likely pathogenic (★★) |
| KRT5 M327T | 327 | IF rod | Pathogenic / likely pathogenic (★★) |
| KRT5 R331C | 331 | IF rod | Pathogenic / likely pathogenic (★★) |
| KRT14 N140S | 140 | IF rod | Pathogenic / likely pathogenic (★) |
| KRT14 R125P | 125 | IF rod | Pathogenic / likely pathogenic (★) |
| KRT14 E422K | 422 | IF rod | Pathogenic / likely pathogenic |
Same protein, different disease
- Dermatopathia pigmentosa reticularis also has ClinVar records linked to KRT14 variants; they fall partly in the same places as the Localized epidermolysis bullosa simplex variants (8 pathogenic / likely pathogenic).
- Generalized epidermolysis bullosa simplex, non-Dowling-Meara type also has ClinVar records linked to KRT14 variants; they fall mostly in different places as the Localized epidermolysis bullosa simplex variants (7 pathogenic / likely pathogenic).
- Epidermolysis bullosa simplex also has ClinVar records linked to KRT14 variants; they fall mostly in different places as the Localized epidermolysis bullosa simplex variants (6 pathogenic / likely pathogenic).
- Epidermolysis bullosa simplex 1A, generalized severe also has ClinVar records linked to KRT14 variants; they fall partly in the same places as the Localized epidermolysis bullosa simplex variants (6 pathogenic / likely pathogenic).
- KRT14-related epidermolysis bullosa simplex also has ClinVar records linked to KRT14 variants; they fall mostly in different places as the Localized epidermolysis bullosa simplex variants (4 pathogenic / likely pathogenic).
- Epidermolysis bullosa simplex also has ClinVar records linked to KRT5 variants; they fall mostly in different places as the Localized epidermolysis bullosa simplex variants (18 pathogenic / likely pathogenic).
- Epidermolysis bullosa simplex 2B, generalized intermediate also has ClinVar records linked to KRT5 variants; they fall mostly in different places as the Localized epidermolysis bullosa simplex variants (5 pathogenic / likely pathogenic).
Diseases related to Localized epidermolysis bullosa simplex
- Epidermolysis bullosa simplex, also linked to KRT14 and KRT5
- Epidermolysis bullosa simplex 1A, generalized severe, also linked to KRT14 and KRT5
- Generalized epidermolysis bullosa simplex, non-Dowling-Meara type, also linked to KRT14 and KRT5
- KRT14-related epidermolysis bullosa simplex, also linked to KRT14 and KRT5
- Dermatopathia pigmentosa reticularis, also linked to KRT14
- Basal cell carcinoma, also linked to KRT5
- Epidermolysis bullosa simplex 2B, generalized intermediate, also linked to KRT5
- Epidermolysis bullosa, also linked to KRT5
- Dowling-Degos disease, also linked to KRT5
- Epidermolysis bullosa simplex 2A, generalized severe, also linked to KRT5
- Epidermolysis bullosa simplex 2C, localized, also linked to KRT5
Frequently asked questions
Which genes have records linked to Localized epidermolysis bullosa simplex?
This view contains 2 analyzed proteins: KRT14, KRT5. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 7 pathogenic or likely pathogenic variants, 2 variants of uncertain significance and 0 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 31 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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