--- license: permission_granted topic_id: companion_breed_health_giant_schnauzer_hyperuricosuria_and_hyperuricemia_dog category: companion-breed-health title: "Giant Schnauzer — Hyperuricosuria and hyperuricemia (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/giant_schnauzer_hyperuricosuria_and_hyperuricemia_1768.txt date_parsed: 2026-08-02 tokens_estimated: 664 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_giant_schnauzer_hyperuricosuria_and_hyperuricemia_dog/01_companion_breed_health_giant_schnauzer_hyperuricosuria_and_hyperuricemia_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Giant Schnauzer — Hyperuricosuria and hyperuricemia (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001033/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false
Giant Schnauzer — Hyperuricosuria and hyperuricemia (hereditary; OMIA-verified breed predisposition)
Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Breed: Giant Schnauzer (Dog)Disorder: Hyperuricosuria and hyperuricemiaMode of inheritance: Autosomal recessiveSummary: This entry focuses on hyperuricosuria and hyperuricemia and resulting urate urolithiasis. Not all dogs with hyperuricosuria and hyperuricemia will develop urolithiasis. For cystine urolithiasis see various entries for cystinuria: a href=../../../../../../OMIA000256/9615/OMIA:000256-9615/a : Cystinuria, type I - A in Canis lupus familiaris (dog), a href=../../../../../../OMIA001879/9615/OMIA:001879-9615/a: Cystinuria, type II - A in Canis lupus familiaris (dog),a href=../../../../../../OMIA001880/9615/ OMIA:001880-9615/a : Cystinuria, type II - B in Canis lupus familiaris (dog), a href=../../../../../../OMIA001881/9615/OMIA:001881-9615/a : Cystinuria, type III in Canis lupus familiaris (dog). The reference list below includes some papers relating to other forms of urolithiasis (e.g. calcium oxalate or struvites) and it is noted that some forms of urolithiasis do not have a genetic aetiology. For example, any cause of severe hepatic dysfunction may predispose dogs to urate lithogenesis (Bartges et al., 1999).Clin feat: Individuals with a mutation at the SLC2A9 gene accumulate uric acid due to inefficient transport of uric acid in both the liver and renal proximal tubules (Bannasch et al., 2008). High levels of uric acid excretion predispose the formation of ammonium urate uroliths (Bartges and Callens, 2015). Clinical signs are secondary to urate urolith formation in the ureter, bladder, and urethra. Uroliths are more commonly reported in male dogs with the first episode of calculus formation in Dalmatians in males at about 4.5 years and in females at 5.5 years of age (Case et al. 1993). Affected dogs may have pollakiuria or hematuria, or they may be asymptomatic. Small uroliths may be voided in urine, or the urine may be turbid. If urethral obstruction is present, owners may notice the dog attempting to urinate and not voiding any urine or systemic signs of obstructive uropathy (i.e., anorexia, vomiting, muscle fasciculations, depression, collapse). Urate nephroliths may be asymptomatic or may be associated with silent gross hematuria. Nephroliths that obstruct both renal pelves or both ureters are associated with systemic signs of postrenal azotemia (Bartges et al. 1999) Systemically, hyperkalemia, metabolic acidosis, and dehydration can be observed in some animals (Bartges and Callens, 2015). IT thanks DVM student Nancy Wang, who provided the basis of this contribution in May 2023.Defect: yes
Associated gene(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- Gene: Entrez Gene ID 27949574 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Sequencing and expression analysis of one of the four positional candidate genes (see Mapping section) by Bannasch et al. (2008) identified the causal mutation as "a missense mutation (G616T;C188F)" in the SLC2A9 gene. All Dalmations are homozygous for this mutation. Karmi et al. (2010) conducted two studies in which they genotyped dogs of several other breed for this variant and identified that t…
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 1940. The inheritance of predisposition to renal calculi in the Dalmatian. Journal of the American Veterinary Medical Association — OMIA Phene_Article / Article
- 1918. The purine metabolism of the Dalmatian Coach Hound. Journal of Biological Chemistry — OMIA Phene_Article / Article
- 1948. Effect of sodium salicylate upon the uric acid clearance of the Dalmatian dog. American Journal of Physiology — OMIA Phene_Article / Article
- 1923. Uric acid and allantoin excretion among offspring of Dalmatian hybrids. Biochem J — PubMed:PMID16743253 | DOI:10.1042/bj0170564 — OMIA Phene_Article / Article
- 1955. Canine urolithiasis: a survey and discussion of 52 clinical cases. Journal of the American Veterinary Medical Association — PubMed:PMID13221500 — OMIA Phene_Article / Article
- 1948. Observations concerning the causes of the excess excretion of uric acid in the Dalmatian dog. Journal of Biological Chemistry — OMIA Phene_Article / Article
- 1971. Low uricase activity in the Dalmatian dog simulated in mongrels given uronic acid. American Journal of Physiology — PubMed:PMID5551153 — OMIA Phene_Article / Article
- 1993. Urolithiasis in Dalmatians - 275 Cases (1981-1990). Journal of the American Veterinary Medical Association — PubMed:PMID8407468 — OMIA Phene_Article / Article
- 1993. Metabolic and Genetic Aspects of Urate Urolithiasis in Dalmatians. Journal of the American Veterinary Medical Association — PubMed:PMID8226242 — OMIA Phene_Article / Article
- 1993. Diagnosis, Prevention, and Treatment of Urate Urolithiasis in Dalmatians. Journal of the American Veterinary Medical Association — PubMed:PMID8226243 — OMIA Phene_Article / Article
- 1998. Association between hyperadrenocorticism and development of calcium-containing uroliths in dogs with urolithiasis. Journal of the American Veterinary Medical Association — OMIA Phene_Article / Article
- 1998. Urolithiasis in dogs iii - prevalence of urinary tract infection and interrelations of infection, age, sex, and mineral composition. American Journal of Veterinary Research — PubMed:PMID9582970 — OMIA Phene_Article / Article
- (71 additional references in OMIA)
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- OMIM:220150 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:606142 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:612076 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."