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

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

Categories: Renal / urinary system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 173900 (trait) , 601313 (gene)

Links to MONDO diseases:

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

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.

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 Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
72 Bull Terrier Polycystic kidney disease PKD1 missense Naturally occurring variant CanFam3.1 6 g.38856816G>A c.9559G>A p.(E3187K) rs397509460 rs397509460 2011 21818326 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool


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.

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. (vol 77, pg 361, 1999) Australian Veterinary Journal 77:583, 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