Dilated Cardiomyopathy risk factor (Discovered in the Doberman Pinscher; PDK4-related)
Dilated Cardiomyopathy risk factor (Discovered in the Doberman Pinscher; PDK4-related). Autosomal dominant (incomplete penetrance). Observed in 97 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,665 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:000162-9615
- Inheritance
- Autosomal dominant (incomplete penetrance)
- Source dataset
- Sniff Atlas v1.0.1 / DOI
Top 25 well-sampled breeds (n ≥ 50)
Maximum carrier frequency per breed across variants in the Donner 2023 cohort, with Wilson 95% confidence intervals. 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.
| Breed | Carrier frequency | n tested |
|---|---|---|
| Dobermann Pinscher | 37.4% | 2,219 |
| Kromfohrlander | 33.0% | 197 |
| Nova Scotia Duck Tolling Retriever | 24.6% | 63 |
| Rhodesian Ridgeback | 21.8% | 323 |
| Cardigan Welsh Corgi | 19.2% | 125 |
| Parson Russell Terrier | 17.7% | 181 |
| Russell Terrier | 17.6% | 239 |
| Yorkshire Terrier | 13.4% | 8,367 |
| Treeing Walker Coonhound | 12.9% | 336 |
| Spanish Water Dog | 12.0% | 96 |
| Neapolitan Mastiff | 11.7% | 90 |
| Australian Shepherd | 11.5% | 2,296 |
| Mi Ki | 11.5% | 61 |
| Miniature Pinscher | 9.7% | 658 |
| Fox Terrier Wire | 9.3% | 183 |
| Chinese Crested | 8.3% | 204 |
| German Wirehaired Pointer | 6.5% | 84 |
| Papillon | 6.1% | 197 |
| Australian Cattle Dog | 5.1% | 982 |
| French Bulldog | 3.4% | 13,114 |
| Miniature American Shepherd | 3.1% | 1,476 |
| Staffordshire Bull Terrier | 3.1% | 610 |
| Poodle Miniature | 3.0% | 3,555 |
| Boston Terrier | 2.8% | 3,702 |
| Cocker Spaniel | 2.8% | 1,881 |
Top 25 of 72 well-sampled breeds with at least one observed carrier shown.
▸ Also observed in 25 small-sample breeds (n < 50)
Frequencies in this section are statistical estimates with wide Wilson 95% confidence intervals (typically >20 percentage points). Treat these as "carriers observed but the true population frequency is not yet measurable" rather than as comparable to the well-sampled entries above.
| Breed | Estimate | n tested |
|---|---|---|
| Lowchen | 75.0% | 4 |
| Affenpinscher | 50.0% | 8 |
| Terrier Brazileiro | 40.0% | 5 |
| German Hunting Terrier | 34.6% | 13 |
| Lancashire Heeler | 29.4% | 17 |
| Sealyham Terrier | 25.0% | 4 |
| Lacy Dog | 23.4% | 32 |
| Redbone Coonhound | 17.2% | 29 |
| Manchester Terrier Toy | 16.7% | 12 |
| Welsh Terrier | 14.3% | 21 |
| Cesky Terrier | 12.5% | 4 |
| Lakeland Terrier | 12.5% | 8 |
| Mcnab | 12.5% | 28 |
| American Water Spaniel | 8.3% | 6 |
| Silky Terrier | 7.1% | 28 |
| Maremma Sheepdog | 6.8% | 37 |
| Tibetan Mastiff | 6.3% | 32 |
| Schapendoes | 5.6% | 45 |
| Bedlington Terrier | 4.5% | 11 |
| Plott | 4.0% | 25 |
| Komondor | 3.6% | 14 |
| Irish Terrier | 2.9% | 35 |
| American Hairless Rat Terrier | 2.7% | 37 |
| Belgian Sheepdog | 2.5% | 40 |
| Tibetan Spaniel | 2.0% | 39 |
169 additional breeds in the Donner 2023 cohort were tested but showed no carriers.
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. Carrier frequency is measured; phenotype outcome depends on penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.
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:000162-9615.
- Donner et al. 2023 for the breed × variant carrier-frequency cohort:
Donner, J., et al. (2023). PLOS Genetics, 19(3), e1010651. https://doi.org/10.1371/journal.pgen.1010651.
Full citation formats (BibTeX, RIS, CITATION.cff) at sniff.world/cite.
Related
- Sniff Atlas v1.0.1 — the source dataset for these frequencies.
- Browse breeds — per-breed Mendelian profiles, including this disease in context.
- OMIA entry OMIA:000162-9615 — authoritative clinical reference.