OMIA:000807-9615 : Polycystic kidney disease in Canis lupus familiaris (dog)

In other species: crab-eating macaque , domestic cat , lion , horse , pig , Western roe deer , white-tailed deer , taurine cattle , sheep , rabbit , degu , markhor , springbok

Categories: Renal / urinary system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 173900 (trait) , 601313 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2011

Cross-species summary: PKD

Species-specific name: Autosomal dominant polycystic kidney disease (ADPKD); Bull terrier polycystic kidney disease (BTPKD); renal cystic disease

Molecular basis: 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*)."

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."

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.

Breeds: Bull Terrier (Dog) (VBO_0200255), Cairn Terrier (Dog) (VBO_0200267), Lagotto Romagnolo (Dog) (VBO_0200804), West Highland White Terrier (Dog) (VBO_0201415).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PKD1 polycystic kidney disease 1 (autosomal dominant) Canis lupus familiaris 6 NC_051810.1 (39132038..39173761) PKD1 Homologene, Ensembl , NCBI gene


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
72 Bull Terrier (Dog) Polycystic kidney disease PKD1 missense Naturally occurring variant CanFam3.1 6 g.38856816G>A c.9559G>A p.(E3187K) rs397509460 2011 21818326 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1585 Lagotto Romagnolo (Dog) Polycystic kidney disease PKD1 nonsense (stop-gain) Naturally occurring variant UU_Cfam_GSD_1.0 6 g.39295382G>T c.7195G>T p.(E2399*) NM_001006650.1; NP_001006651.1 2023 37372390

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000807-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2023 Drögemüller, M., Klein, N., Steffensen, R.L., Keiner, M., Jagannathan, V., Leeb, T. :
PKD1 nonsense variant in a Lagotto Romagnolo family with polycystic kidney disease. Genes (Basel) 14, 2023. Pubmed reference: 37372390. DOI: 10.3390/genes14061210.
2020 Koslowski, S., Latapy, C., Auvray, P., Blondel, M., Meijer, L. :
An overview of in vivo and in vitro models for autosomal dominant polycystic kidney disease: A journey from 3D-cysts to mini-pigs. Int J Mol Sci 21:4537, 2020. Pubmed reference: 32630605. DOI: 10.3390/ijms21124537.
2011 Gharahkhani, P., O'Leary, C.A., Kyaw-Tanner, M., Sturm, R.A., Duffy, D.L. :
A non-synonymous mutation in the canine Pkd1 gene is associated with autosomal dominant polycystic kidney disease in Bull Terriers. PLoS One 6:e22455, 2011. Pubmed reference: 21818326. DOI: 10.1371/journal.pone.0022455.
2009 O'Leary, CA., Duffy, D., Biros, I., Corley, S. :
Linkage confirms canine pkd1 orthologue as a candidate for bull terrier polycystic kidney disease. Anim Genet 40:543-6, 2009. Pubmed reference: 19397527. DOI: 10.1111/j.1365-2052.2009.01863.x.
2006 O'Leary, CA., Duffy, D., Biros, I., Corley, S., Seddon, JM. :
Linkage analysis excludes the involvement of the canine PKD2 homologue in bull terrier polycystic kidney disease. Anim Genet 37:527-8, 2006. Pubmed reference: 16978192. DOI: 10.1111/j.1365-2052.2006.01517.x.
2005 O'Leary, CA., Mackay, BM., Taplin, RH., Atwell, RB. :
Auscultation and echocardiographic findings in Bull Terriers with and without polycystic kidney disease. Aust Vet J 83:270-5, 2005. Pubmed reference: 15957386.
2004 O'Leary, CA., Turner, S. :
Chronic renal failure in an English bull terrier with polycystic kidney disease. J Small Anim Pract 45:563-7, 2004. Pubmed reference: 15553195.
2003 O'Leary, CA., Atwell, RB., Laing, NG. :
No disease-associated mutations found in the coding sequence of the canine polycystic kidney disease gene 1 in Bull Terriers with polycystic kidney disease. Anim Genet 34:358-61, 2003. Pubmed reference: 14510672.
2002 Dackowski, W.R., Luderer, H.F., Manavalan, P., Bukanov, N.O., Russo, R.J., Roberts, B.L., Klinger, K.W., Ibraghimov-Beskrovnaya, O. :
Canine PKD1 is a single-copy gene: Genomic organization and comparative analysis Genomics 80:105-112, 2002. Pubmed reference: 12079289.
O'Leary, C.A., Ghoddusi, M., Huxtable, C.R. :
Renal pathology of polycystic kidney disease and concurrent hereditary nephritis in Bull Terriers Australian Veterinary Journal 80:353-361, 2002. Pubmed reference: 12153062.
1999 O'Leary, C.A., Mackay, B.M., Malik, R., Edmondston, J.E., Robinson, W.F., Huxtable, C.R. :
Polycystic kidney disease in Bull Terriers: an autosomal dominant inherited disorder Australian Veterinary Journal 77:361-366, 1999. Pubmed reference: 10812399.
1998 Liu, P.C., Chen, Y.W., Shibuya, H., Lubahn, D.B., Johnson, G.S. :
A length polymorphism in an intron of the canine polycystic kidney disease 1 gene Animal Genetics 29:322-323, 1998. Pubmed reference: 9745674.
McAloose, D., Casal, M., Patterson, D.F., Dambach, D.M. :
Polycystic kidney and liver disease in two related West Highland White Terrier litters Veterinary Pathology 35:77-81, 1998. Pubmed reference: 9545140.
1994 Burrows, A.K., Malik, R., Hunt, G.B., Davey, T., Rothwell, T.L.W., Robinson, W.F. :
Familial polycystic kidney disease in bull terriers Journal of Small Animal Practice 35:364–369, 1994.
1982 Chalifoux, A., Phaneuf, JB., Olivieri, M., Gosselin, Y. :
Glomerular polycystic kidney disease in a dog (blue merle collie). Can Vet J 23:365-8, 1982. Pubmed reference: 17422209.
1980 McKenna, SC., Carpenter, JL. :
Polycystic disease of the kidney and liver in the Cairn Terrier. Vet Pathol 17:436-42, 1980. Pubmed reference: 7385577.
1975 McQueen, SD., Directo, AC., Llorico, BF. :
Bilateral congenital polycystic kidneys with vague symptomatology in a dog (a case report). Vet Med Small Anim Clin 70:1167-71, 1975. Pubmed reference: 1041644.
1964 Fox, M.W. :
Inherited polycystic mononephrosis in the dog Journal of Heredity 55:29-30, 1964. Pubmed reference: 14134073.

Edit History

  • Created by Frank Nicholas on 31 Jul 2011
  • Changed by Frank Nicholas on 28 Sep 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Imke Tammen2 on 08 Jun 2023
  • Changed by Imke Tammen2 on 30 Jun 2023