The detail information of Urolithiasis
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Year key mutation first reported: 2008

Species-specific name: Hyperuricosuria and hyperuricemia

Species-specific symbol: huu

More detail information can see in

Associated Breeds
There are associated breeds.
Associated Gene
Symbol Description Species Position Other Links
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9 Canis lupus familiaris Chr3 : 70150039 - 70345339 Homologene, Ensembl, NCBI gene
References
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.
2015 Cosgrove,L.,Hammond,G.,Mclauchlan,G.: :
Primary portal vein hypoplasia and SLC2A9 mutation associated with urate urolithiasis in a Spanish water dog. Can Vet J 56:1153-7, 2015.
Pubmed reference: 26538670 .
2013 Jacinto,A.M.,Mellanby,R.J.,Chandler,M.,Bommer,N.X.,Carruthers,H.,Fairbanks,L.D.,Gow,A.G.: :
Urine concentrations of xanthine, hypoxanthine and uric acid in UK Cavalier King Charles spaniels. J Small Anim Pract 54:395-8, 2013.
Pubmed reference: 23859747 . DOI: 10.1111/jsap.12106 .
2013 Palma,D.,Langston,C.,Gisselman,K.,McCue,J.: :
Canine struvite urolithiasis. Compend Contin Educ Vet 35:E1; quiz E1, 2013.
Pubmed reference: 23677867 .
2012 Kaiser,J.,Stĕpánková,K.,KořIstková,T.,Sedo,O.,Melnyk,G.,Hartl,M.,Paloušek,D.,Kucera,J.: :
Determination of the cause of selected canine urolith formation by advanced analytical methods. J Small Anim Pract 53:646-51, 2012.
Pubmed reference: 23034064 . DOI: 10.1111/j.1748-5827.2012.01292.x .
2012 Roe,K.,Pratt,A.,Lulich,J.,Osborne,C.,Syme,H.M.: :
Analysis of 14,008 uroliths from dogs in the UK over a 10-year period. J Small Anim Pract 53:634-40, 2012.
Pubmed reference: 22957984 . DOI: 10.1111/j.1748-5827.2012.01275.x .
2010 Bannasch,D.,Young,A.,Myers,J.,Truvé,K.,Dickinson,P.,Gregg,J.,Davis,R.,Bongcam-Rudloff,E.,Webster,M.T.,Lindblad-Toh,K.,Pedersen,N.: :
Localization of canine brachycephaly using an across breed mapping approach. PLoS One 5:e9632, 2010.
Pubmed reference: 20224736 . DOI: 10.1371/journal.pone.0009632 .
2010 Karmi,N.,Brown,EA.,Hughes,SS.,Mclaughlin,B.,Mellersh,CS.,Biourge,V.,Bannasch,DL.: :
Estimated frequency of the canine hyperuricosuria mutation in different dog breeds. J Vet Intern Med 24:1337-42, 2010.
Pubmed reference: 21054540 . DOI: 10.1111/j.1939-1676.2010.0631.x .
2010 Karmi,N.,Safra,N.,Young,A.,Bannasch,DL.: :
Validation of a urine test and characterization of the putative genetic mutation for hyperuricosuria in Bulldogs and Black Russian Terriers. Am J Vet Res 71:909-14, 2010.
Pubmed reference: 20673090 . DOI: 10.2460/ajvr.71.8.909 .
2010 Speth,RC.: :
Re: Inheritance of urinary calculi in the Dalmatian. J Vet Intern Med 24:1239-40; author reply 1241, 2010.
Pubmed reference: 21054531 . DOI: 10.1111/j.1939-1676.2010.0599.x .
2010 Weiss,CH.: :
The link between hyperuricosuria and urate urolithiasis. Am J Vet Res 71:1257; author reply 1257-8, 2010.
Pubmed reference: 21034314 . DOI: 10.2460/ajvr.71.11.1257 .
2010 Yoon,H.Y.,Mann,F.A.,Punke,J.P.,Jeong,S.W.: :
Bilateral ureteral ectopia with renal dysplasia and urolithiasis in a dog. J Am Anim Hosp Assoc 46:209-14, 2010.
Pubmed reference: 20439946 .
2009 Bannasch,D.,Henthorn,PS.: :
Changing paradigms in diagnosis of inherited defects associated with urolithiasis. Vet Clin North Am Small Anim Pract 39:111-25, 2009.
Pubmed reference: 19038654 . DOI: 10.1016/j.cvsm.2008.09.006 .
2009 Houston,DM.,Moore,AE.: :
Canine and feline urolithiasis: examination of over 50 000 urolith submissions to the Canadian veterinary urolith centre from 1998 to 2008. Can Vet J 50:1263-8, 2009.
Pubmed reference: 20190975 .
2009 Osborne,C.A.,Lulich,J.P.,Kruger,J.M.,Ulrich,L.K.,Koehler,L.A.: :
Analysis of 451,891 canine uroliths, feline uroliths, and feline urethral plugs from 1981 to 2007: perspectives from the Minnesota Urolith Center. Vet Clin North Am Small Anim Pract 39:183-97, 2009.
Pubmed reference: 19038658 . DOI: 10.1016/j.cvsm.2008.09.011 .
2008 Bannasch,D.,Safra,N.,Young,A.,Karmi,N.,Schaible,RS.,Ling,GV.: :
Mutations in the SLC2A9 gene cause hyperuricosuria and hyperuricemia in the dog. PLoS Genet 4:e1000246, 2008.
Pubmed reference: 18989453 . DOI: 10.1371/journal.pgen.1000246 .
2006 Safra,N.,Schaible,RH.,Bannasch,DL.: :
Linkage analysis with an interbreed backcross maps Dalmatian hyperuricosuria to CFA03. Mamm Genome 17:340-5, 2006.
Pubmed reference: 16596455 . DOI: 10.1007/s00335-005-0137-5 .
2005 Albasan,H.,Lulich,JP.,Osborne,CA.,Lekcharoensuk,C.: :
Evaluation of the association between sex and risk of forming urate uroliths in Dalmatians. J Am Vet Med Assoc 227:565-9, 2005.
Pubmed reference: 16117063 .
2005 Safra,N.,Ling,GV.,Schaible,RH.,Bannasch,DL.: :
Exclusion of Urate Oxidase as a Candidate Gene for Hyperuricosuria in the Dalmatian Dog Using an Interbreed Backcross. J Hered :, 2005.
Pubmed reference: 15958795 . DOI: 10.1093/jhered/esi078 .
2005 Simkin,P.A.: :
The Dalmatian defect: a hepatic endocrinopathy of urate transport. Arthritis Rheum 52:2257-62, 2005.
Pubmed reference: 16052594 . DOI: 10.1002/art.21241 .
2005 Snyder,DM.,Steffey,MA.,Mehler,SJ.,Drobatz,KJ.,Aronson,LR.: :
Diagnosis and surgical management of ureteral calculi in dogs: 16 cases (1990-2003). N Z Vet J 53:19-25, 2005.
Pubmed reference: 15731830 . DOI: 10.1080/00480169.2005.36464 .
2005 Sosnar,M.,Bulkova,T.,Ruzicka,M.: :
Epidemiology of canine urolithiasis in the Czech Republic from 1997 to 2002. J Small Anim Pract 46:177-84, 2005.
Pubmed reference: 15835236 .
2004 Bannasch,DL.,Ling,GV.,Bea,J.,Famula,TR.: :
Inheritance of urinary calculi in the Dalmatian. J Vet Intern Med 18:483-7, 2004.
Pubmed reference: 15822555 .
2004 Bannasch,DL.,Ryun,JR.,Bannasch,MJ.,Schaible,RH.,Breen,M.,Ling,G.: :
Exclusion of galectin 9 as a candidate gene for hyperuricosuria in the Dalmatian dog. Anim Genet 35:326-8, 2004.
Pubmed reference: 15265074 . DOI: 10.1111/j.1365-2052.2004.01154.x .
2004 Bende,B.,Németh,T.: :
High prevalence of urate urolithiosis in the Russian black terrier. Vet Rec 155:239-40, 2004.
Pubmed reference: 15384507 .
2003 Carvalho,M.,Lulich,J.P.,Osborne,C.A.,Nakagawa,Y.: :
Role of urinary inhibitors of crystallization in uric acid nephrolithiasis: Dalmatian dog model Urology 62:566-70, 2003.
Pubmed reference: 12946778 .
2001 Bende,B.,Dunay,M.,Zsomboly,M.: :
Cystine urolithiasis in dogs. Examination and treatment of a hereditary metabolic disorder and its consequences Magyar Allatorvosok Lapja 123:486-491, 2001.
2000 Lekcharoensuk,C.,Lulich,J.P.,Osborne,C.A.,Pusoonthornthum,R.,Allen,T.A.,Koehler,L.A.,Urlich,L.K.,Carpenter,K.A.,Swanson,L.L.: :
Patient and environmental factors associated with calcium oxalate urolithiasis in dogs Journal of the American Veterinary Medical Association 217:515-519, 2000.
Pubmed reference: 10953715 .
1999 Bartges,J.W.,Osborne,C.A.,Lulich,J.P.,Kruger,J.M.,Sanderson,S.L.,Koehler,L.A.,Ulrich,L.K.: :
Canine urate urolithiasis. Etiopathogenesis, diagnosis, and management. Vet Clin North Am Small Anim Pract 29:161-91, xii-xiii, 1999.
Pubmed reference: 10028157 .
1999 Feeney,D.A.,Weichselbaum,R.C.,Jessen,C.R.,Osborne,C.A.: :
Imaging canine urocystoliths. Detection and prediction of mineral content. Vet Clin North Am Small Anim Pract 29:59-72, x-xi, 1999.
Pubmed reference: 10028152 .
1999 Franti,C.E.,Ling,G.V.,Ruby,A.L.,Johnson,D.L.: :
Urolithiasis in dogs - V: Regional comparisons of breed, age, sex, anatomic location, and mineral type of calculus American Journal of Veterinary Research 60:29-42, 1999.
Pubmed reference: 9918145 .
1999 Hulsen,J.: :
Urolithiasis in cats and dogs [Dutch] Tijdschrift voor Diergeneeskunde 124:351-+, 1999.
Pubmed reference: 10372422 .
1999 Kruger,J.M.,Osborne,C.A.,Lulich,J.P.: :
Canine calcium phosphate uroliths. Etiopathogenesis, diagnosis, and management. Vet Clin North Am Small Anim Pract 29:141-59, xii, 1999.
Pubmed reference: 10028156 .
1999 Leidinger,J.: :
Urolith diagnosis in dogs and cats [German] Wiener Tierarztliche Monatsschrift 86:18-23, 1999.
1999 Lulich,J.P.,Osborne,C.A.,Lekcharoensuk,C.,Allen,T.A.,Nakagawa,Y.: :
Canine calcium oxalate urolithiasis. Case-based applications of therapeutic principles. Vet Clin North Am Small Anim Pract 29:123-39, 1999.
Pubmed reference: 10028155 .
1999 Lulich,J.P.,Osborne,C.A.,Thumchai,R.,Lekcharoensuk,C.,Ulrich,L.K.,Koehler,L.A.,Bird,K.A.,Swanson,L.L.,Nakagawa,Y.: :
Epidemiology of canine calcium oxalate uroliths. Identifying risk factors. Vet Clin North Am Small Anim Pract 29:113-22, xi, 1999.
Pubmed reference: 10028154 .
1999 Osborne,C.A.: :
Medical dissolution and prevention of canine uroliths. Seven steps from science to service. Vet Clin North Am Small Anim Pract 29:1-15, ix, 1999.
Pubmed reference: 10028148 .
1999 Osborne,C.A.,Jacob,F.,Lulich,J.P.,Hansen,M.J.,Lekcharoensul,C.,Ulrich,L.K.,Koehler,L.A.,Bird,K.A.,Swanson,L.L.: :
Canine silica urolithiasis. Risk factors, detection, treatment, and prevention. Vet Clin North Am Small Anim Pract 29:213-30, xiii, 1999.
Pubmed reference: 10028159 .
1999 Osborne,C.A.,Lulich,J.P.: :
Risk and protective factors for urolithiasis. What do they mean? Vet Clin North Am Small Anim Pract 29:39-43, x, 1999.
Pubmed reference: 10028150 .
1999 Osborne,C.A.,Lulich,J.P.,Bartges,J.W.: :
The rocket science of canine urolithiasis - Preface Veterinary Clinics of North America - Small Animal Practice 29:XVII-XVIII, 1999.
1999 Osborne,C.A.,Lulich,J.P.,Bartges,J.W.,Ulrich,L.K.,Koehler,L.A.,Bird,K.A.,Swanson,L.L.,Austin,G.W.,Prien,E.L.,Steinam,K.U.: :
Drug-induced urolithiasis. Vet Clin North Am Small Anim Pract 29:251-66, xiv, 1999.
Pubmed reference: 10028161 .
1999 Osborne,C.A.,Lulich,J.P.,Polzin,D.J.: :
Canine retrograde urohydropropulsion. Lessons from 25 years of experience. Vet Clin North Am Small Anim Pract 29:267-81, xiv, 1999.
Pubmed reference: 10028162 .
1999 Osborne,C.A.,Lulich,J.P.,Polzin,D.J.,Allen,T.A.,Kruger,J.M.,Bartges,J.W.,Koehler,L.A.,Ulrich,L.K.,Bird,K.A.,Swanson,L.L.: :
Medical dissolution and prevention of canine struvite urolithiasis. Twenty years of experience. Vet Clin North Am Small Anim Pract 29:73-111, xi, 1999.
Pubmed reference: 10028153 .
1999 Osborne,C.A.,Lulich,J.P.,Polzin,D.J.,Sanderson,S.L.,Koehler,L.A.,Ulrich,L.K.,Bird,K.A.,Swanson,L.L.,Pederson,L.A.,Sudo,S.Z.: :
Analysis of 77,000 canine uroliths - Perspectives from the Minnesota Urolith Center Veterinary Clinics of North America - Small Animal Practice 29:17-, 1999.
1999 Osborne,C.A.,Sanderson,S.L.,Lulich,J.P.,Bartges,J.W.,Ulrich,L.K.,Koehler,L.A.,Bird,K.A.,Swanson,L.L.: :
Canine cystine urolithiasis. Cause, detection, treatment, and prevention. Vet Clin North Am Small Anim Pract 29:193-211, xiii, 1999.
Pubmed reference: 10028158 .
1999 Schafer,S.,Remtisch,C.,Iben,C.: :
Urolithiasis in a bitch during pregnancy [German] Wiener Tierarztliche Monatsschrift 86:281-285, 1999.
1998 Hess,R.S.,Kass,P.H.,Ward,C.R.: :
Association between hyperadrenocorticism and development of calcium-containing uroliths in dogs with urolithiasis Journal of the American Veterinary Medical Association 212:1889 ff., 1998.
1998 Jones,B.R.,Kirkman,J.H.,Hogan,J.,Holmes,S.: :
Analysis of uroliths from cats and dogs in New Zealand, 1993-96 New Zealand Veterinary Journal 46:233-236, 1998.
1998 Ling,G.V.,Franti,C.E.,Johnson,D.L.,Ruby,A.L.: :
Urolithiasis in dogs iv - survey of interrelations among breed, mineral composition, and anatomic location of calculi, and presence of urinary tract infection American Journal of Veterinary Research 59:650-660, 1998.
Pubmed reference: 9582971 .
1998 Ling,G.V.,Franti,C.E.,Johnson,D.L.,Ruby,A.L.: :
Urolithiasis in dogs iii - prevalence of urinary tract infection and interrelations of infection, age, sex, and mineral composition American Journal of Veterinary Research 59:643-649, 1998.
Pubmed reference: 9582970 .
1998 Ling,G.V.,Franti,C.E.,Ruby,A.L.,Johnson,D.L.: :
Urolithiasis in dogs ii - breed prevalence, and interrelations of breed, sex, age, and mineral composition American Journal of Veterinary Research 59:630-642, 1998.
Pubmed reference: 9582969 .
1998 Ling,G.V.,Franti,C.E.,Ruby,A.L.,Johnson,D.L.,Thurmond,M.: :
Urolithiasis in dogs i - mineral prevalence and interrelations of mineral composition, age, and sex American Journal of Veterinary Research 59:624-629, 1998.
Pubmed reference: 9582968 .
1993 Case,L.C.,Ling,G.V.,Ruby,A.L.,Johnson,D.L.,Franti,C.E.,Stevens,F.: :
Urolithiasis in Dalmatians - 275 Cases (1981-1990) Journal of the American Veterinary Medical Association 203:96-100, 1993.
Pubmed reference: 8407468 .
1993 Sorenson,J.L.,Ling,G.V.: :
Metabolic and Genetic Aspects of Urate Urolithiasis in Dalmatians Journal of the American Veterinary Medical Association 203:857-862, 1993.
Pubmed reference: 8226242 .
1993 Sorenson,J.L.,Ling,G.V.: :
Diagnosis, Prevention, and Treatment of Urate Urolithiasis in Dalmatians Journal of the American Veterinary Medical Association 203:863-869, 1993.
Pubmed reference: 8226243 .
1986 Schaible,R.H.: :
Genetic predisposition to purine uroliths in Dalmatian dogs. Vet Clin North Am Small Anim Pract 16:127-31, 1986.
Pubmed reference: 3486508 .
1971 Yu,T.F.: :
Low uricase activity in the Dalmatian dog simulated in mongrels given uronic acid American Journal of Physiology 220:973-979, 1971.
Pubmed reference: 5551153 .
1955 Brodey,R.S.: :
Canine urolithiasis: a survey and discussion of 52 clinical cases Journal of the American Veterinary Medical Association 126:1-9, 1955.
Pubmed reference: 13221500 .
1948 Friedman,M.,Byers,S.O.: :
Observations concerning the causes of the excess excretion of uric acid in the Dalmatian dog Journal of Biological Chemistry 175:727-735, 1948.
1938 Trimble,H.C.,Keeler,C.E.: :
The inheritance of "high uric acid excretion" in dogs Journal of Heredity 29:281-189, 1938.