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Canine Mendelian disease record

Polycystic Kidney Disease (Discovered in the Bull Terrier)

Polycystic Kidney Disease (Discovered in the Bull Terrier). Autosomal dominant. Observed in 2 of 266 breeds tested in the Sniff Atlas, with measured at-risk genotype frequencies drawn from 242,624 dogs (Donner 2023). Because this is a dominant trait, a single copy places a dog at risk rather than making it a silent carrier; whether the phenotype appears still depends on penetrance, modifier genes, and environment.

Dominant trait. A single copy of this variant places a dog at risk; it does not make the dog a silent carrier. The breed frequencies below are therefore at-risk frequencies, and penetrance plus modifier genes determine whether the phenotype actually appears.

OMIA identifier
OMIA:000807-9615
Autosomal dominant
Source dataset
Sniff Atlas v1.0.1 / DOI
The human connection

A model of human polycystic kidney disease 1

This is the canine counterpart of polycystic kidney disease 1 in people. 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: Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene.

In humans it is also called: APKD1, PKD1, polycystic kidney disease type 1, Potter type 3 polycystic kidney disease.

MONDO:0008263 OMIM 173900

Mapped from OMIA via the human disease's OMIM entry to the Mondo Disease Ontology (Monarch Initiative, CC-BY 4.0). 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

PKD

Clinical features

Bull terriers with polycystic kidney disease (PKD) have bilateral renal cysts (Gharahkhani et al., 20211). Clinical features include proteinuria, haematuria and pyuria leading to terminal uraemia, poor body condition and signs of renal failure with middle to old age (O'Leary and Turner, 2004). PKD is usually diagnosed by the ultrasonographic detection of at least 3 cysts across the two kidneys and family history of the disease (O'Leary et al., 1999). Bull terriers with PKD have also shown signs of concurrent heart murmurs, increased prevalence of myxomatous mitral valve disease and more severe left ventricular outflow obstruction (O'Leary and Turner, 2004; O'Leary et al. 2005). IT thanks DVM student Gabrielle Park-McCabe, who provided the basis of this contribution in May 2023. The Lagotto Romagnolo dogs with polycystic kidney disease investigated by Drögemüller et al. (2023) "appeared clinically inconspicuous, while sonography revealed the presence of renal cysts."

Molecular genetics

By sequencing the candidate gene PKD1 in two affected and two non-affected Bull Terriers, Gharahkhani et al. (2011) identified a missense mutation in exon 29 that was subsequently shown to be completely associated with the disorder in 47 affected and 102 non-affected dogs of the same breed. Drögemüller et al. (2023) investigated a "female Lagotto Romagnolo dog with polycystic kidney disease (PKD) and her progeny, including PKD-affected offspring ... . A trio whole genome sequencing analysis of the index female and her unaffected parents identified a de novo heterozygous nonsense variant in the coding region of the PKD1 gene. This variant, NM_001006650.1:c.7195G>T, is predicted to truncate 44% of the open reading frame of the wild-type PKD1 protein, NP_001006651.1:p.(Glu2399*)."

Pathology

Pathology of the kidneys may show enlargement or normal size with irregular shape (O'Leary et al., 2002; O'Leary and Turner, 2004). The cysts are generally present in the cortex and medulla of both kidneys, with some concentration at the corticomedullary junction (O'Leary et al., 2002). The fluid of the cysts is usually clear, straw-coloured, serosanguinous and brown (O'Leary et al., 2002). The cysts are lined by a single layer of squamous or low cuboidal epithelial cells, with transitional epithelium sometimes observed (O'Leary et al., 2002). IT thanks DVM student Gabrielle Park-McCabe, who provided the basis of this contribution in May 2023.

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 173900 Gene · OMIM 601313

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:000807-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

Signs & cross-references

How it presents

Catalogued in the Mondo disease ontology (the cross-species disease identity used by the Monarch Initiative) as polycystic kidney disease 1 (MONDO:0008263).

Phenotype terms: Human Phenotype Ontology + Mammalian Phenotype Ontology; disease terms: Mondo (Monarch Initiative). Cross-references curated by OMIA (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 19.

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 Polycystic Kidney Disease (Discovered in the Bull Terrier) and see the odds for their puppies. Single dominant variant, exact Mendelian math.

Parent A
Parent B
NDAffected
NDAffected
NNUnaffected
NNUnaffected
Unaffected50%
Affected50%

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 Polycystic Kidney Disease (Discovered in the Bull Terrier) looks like in your dog's breed.
At-risk frequency by breed

Top 2 well-sampled breeds (n ≥ 50)

Maximum at-risk frequency 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%
Labrador Retriever<0.1% · n 16,856
American Staffordshire Terrier<0.1% · n 42,786
n = 59,642 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 Polycystic Kidney Disease (Discovered in the Bull Terrier) is measured; phenotype outcome depends on penetrance and modifiers.
▸ Full table with Wilson 95% confidence intervals
Breed At-risk frequency n tested
Labrador Retriever <0.1% 16,856
American Staffordshire Terrier <0.1% 42,786

264 additional breeds in the Donner 2023 cohort were tested but showed no at-risk genotypes.

Penetrance

From genotype to phenotype

For this dominant trait, a dog with even one copy is at risk, not a silent carrier. Penetrance is the fraction of at-risk dogs that actually develop the phenotype. The Donner 2023 S4 table tracks this for 1 variant(s) underlying this disease in the cohort.

At-risk dogs evaluated
1
Phenotype confirmed
0
Penetrance range
not yet quantifiable

Fewer than 20 at-risk dogs evaluated; too few to state a penetrance figure.

Predicted disease relevance at the per-dog level is UNPROVEN. The at-risk frequency is measured; phenotype outcome is governed by 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:000807-9615.

  • 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:000807-9615 · Donner et al. 2023