Skip to main content
snıff
Canine Mendelian disease record

Dystrophic Epidermolysis Bullosa (Discovered in the Golden Retriever)

Dystrophic Epidermolysis Bullosa (Discovered in the Golden Retriever). Autosomal recessive. Observed in 3 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,658 dogs (Donner 2023). Per-dog phenotype outcome depends on penetrance, modifiers, and environment; the carrier frequencies below describe variant prevalence, not disease incidence.

OMIA identifier
OMIA:000341-9615
Autosomal recessive
Source dataset
Sniff Atlas v1.0.1 / DOI
The human connection

A model of human recessive dystrophic epidermolysis bullosa

Dogs with this condition carry a change in COL7A1. In people, changes in the same gene cause recessive dystrophic epidermolysis bullosa. That makes affected dogs a naturally-occurring model of the human disease, and it is part of why studying dogs moves medicine forward for everyone. It does not mean your dog has the human disease. It means the two share an underlying biology.

In people, the disease is described as: Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.

In humans it is also called: RDEB, EBD inversa, epidermolysis bullosa dystrophica, AR, RDEB generalisata gravis, RDEB, Hallopeau-Siemens type.

MONDO:0009179 OMIM 131705OMIM 131750

Mapped from OMIA via the human disease's OMIM entry to the Mondo Disease Ontology (Monarch Initiative, CC-BY 4.0). Closely related human conditions exist for this gene. Sniff renders this as a model-of link; the canine disease remains the subject of this page.

About this disease

From OMIA's curated record

Documented in OMIA (Online Mendelian Inheritance in Animals). This describes the disease as recorded in the published literature, not a prediction for any individual dog. As of 2026-06-03.

Summary

Blisters on the outer layer of skin.

Molecular genetics

By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Baldeschi et al. (2003) showed that the molecular basis of this disorder in a family of Golden Retrievers is a missense mutation (5716G>A) in the COL7A1 gene, resulting in a G1906S amino-acid substitution. Niskanen et al. (2017) reported a likely causal variant in Central Asian Shepherd dogs as a nonsense mutation in COL7A1, namely c.4579C>T, p.R1527*. Garcia et al. (2020) "investigated three neonatal Basset Hound littermates with lesions consistent with epidermolysis bullosa" and "found a candidate causative variant in COL7A1 ... . The variant is a complex rearrangement involving duplication of a 107 bp region harboring a frameshift deletion of 7 bp. The variant is predicted to truncate more than 75% of the open reading frame, p.(Val677Serfs*11)."

History

The Golden Retriever colony of affected dogs was first described by Palazzi et al. (2000).

Human analog

OMIA links this condition to its human counterpart in OMIM (Mendelian Inheritance in Man), the place to read across to the deeper human literature for the same biology.

Disease · OMIM 131705 Disease · OMIM 131750 Disease · OMIM 131950 Disease · OMIM 132000 Disease · OMIM 226500 Disease · OMIM 226600

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:000341-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

The evidence

Published references

The peer-reviewed papers behind this disease, curated by OMIA. Starred entries are OMIA-designated landmark papers. Showing 6 of 9.

  1. Genetics of inherited skin disorders in dogs. · Vet J · 2022 · PMID 34861369

References curated by OMIA (Nicholas, Tammen & the Sydney Informatics Hub), doi:10.25910/2AMR-PV70 (CC-BY 4.0). Full list at the OMIA entry.

Predict a litter

Set each parent's status for Dystrophic Epidermolysis Bullosa (Discovered in the Golden Retriever) and see the odds for their puppies. Single recessive variant, exact Mendelian math.

Parent A
Parent B
NNClear
NmCarrier
NmCarrier
mmAffected
Clear25%
Carrier50%
Affected25%

These are the genetic odds for one known variant, not a promise: a real litter varies around them, and penetrance or other genes can change whether the condition ever appears. Use it to avoid pairing two carriers and to keep a line healthy, not to engineer a dog. Inheritance mode per OMIA.
Your breed

See what Dystrophic Epidermolysis Bullosa (Discovered in the Golden Retriever) looks like in your dog's breed.
Carrier frequency by breed

Top 3 well-sampled breeds (n ≥ 50)

Maximum per breed across variants in the Donner 2023 cohort, with . The list below is split into well-sampled breeds (n ≥ 50 tested) and small-sample breeds (n < 50, where the Wilson CI typically spans more than 20 percentage points and frequencies should not be compared directly to the well-sampled entries). Frequencies are population-level, not per-litter or per-line.

0%1%2%
Rhodesian Ridgeback0.15% · n 323
Bulldog Standard<0.1% · n 4,816
Golden Retriever<0.1% · n 12,881
n = 18,020 dogs · Donner et al. 2023 carrier-screening cohort · Sniff Atlas
Each bar is one well-sampled breed; the whisker is its Wilson 95% CI, and fainter bars have wider intervals. Frequencies are population-level, not per-litter. Carrier status for Dystrophic Epidermolysis Bullosa (Discovered in the Golden Retriever) is measured; phenotype outcome depends on penetrance and modifiers.
▸ Full table with Wilson 95% confidence intervals
Breed Carrier frequency n tested
Rhodesian Ridgeback 0.15% 323
Bulldog Standard <0.1% 4,816
Golden Retriever <0.1% 12,881

263 additional breeds in the Donner 2023 cohort were tested but showed no carriers.

Scope of this record

Scope

This record carries the breed-level carrier frequencies from the Donner 2023 cohort. Penetrance data (the fraction of at-risk dogs that develop the phenotype) is not yet quantified for this disease in the Sniff Atlas v1.0.1. The OMIA entry is the authoritative reference for the clinical phenotype, inheritance pattern, and gene assignment.

Predicted disease relevance at the per-dog level is UNPROVEN. The carrier frequency is measured; phenotype outcome depends on penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.

How to cite this record

Citations

If you use this record in published work, cite the Sniff Atlas (the published dataset that carries the breed-level carrier frequencies) and the upstream sources:

  • Sniff Atlas v1.0.1 for the per-breed carrier frequencies:

    Gehring, M. (2026). Sniff Atlas v1.0.1. Zenodo. https://doi.org/10.5281/zenodo.20566358. CC-BY 4.0.

  • OMIA for the disease definition, inheritance, and gene assignment:

    Nicholas, F. W., & Tammen, I. (2024). OMIA. Sydney Informatics Hub, The University of Sydney. https://doi.org/10.25910/2AMR-PV70. Entry: OMIA:000341-9615.

  • Donner et al. 2023 for the breed × variant carrier-frequency cohort:

    Donner, J., Freyer, J., Davison, S., Anderson, H., Blades, M., Honkanen, L., et al. (2023). Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLOS Genetics, 19(2), e1010651. https://doi.org/10.1371/journal.pgen.1010651.

Full citation formats (BibTeX, RIS, CITATION.cff) at sniff.world/cite.

Related

Related

Last updated
Sources: Sniff Atlas v1.0.1 · OMIA OMIA:000341-9615 · Donner et al. 2023