How is Hyperuricosuria (HUU) inherited in dogs?

Hyperuricosuria (HUU) follows a Autosomal recessive inheritance pattern. It has been observed in 61 of 266 breeds screened in the Sniff Atlas.

What is the human equivalent of Hyperuricosuria (HUU)?

OMIA links Hyperuricosuria (HUU) to its human counterpart in OMIM (OMIM 220150, OMIM 612076), the bridge to the deeper human-medicine literature for the same underlying biology.

How well studied is Hyperuricosuria (HUU) in dogs?

OMIA curates 83 peer-reviewed references for Hyperuricosuria (HUU). The full, linked citation list is on this page.

Canine Mendelian disease record

Hyperuricosuria (HUU)

Hyperuricosuria (HUU). Autosomal recessive. Observed in 61 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,658 dogs (Donner 2023). Per-dog phenotype outcome depends on penetrance, modifiers, and environment; the carrier frequencies below describe variant prevalence, not disease incidence.

OMIA identifier: OMIA:001033-9615
Inheritance: Autosomal recessive
Source dataset: Sniff Atlas v1.0.1 / DOI

The human connection

A model of human hypouricemia, renal, 2

This is the canine counterpart of hypouricemia, renal, 2 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 humans it is also called: RHUC2, hypouricemia, renal, type 2, uric acid concentration, serum, QTL 2.

MONDO:0012793 OMIM 220150 OMIM 612076

Mapped from OMIA via the human disease's OMIM entry to the Mondo Disease Ontology (Monarch Initiative, CC-BY 4.0). Closely related human conditions exist for this gene. 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

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: OMIA:000256-9615 : Cystinuria, type I - A in Canis lupus familiaris (dog), OMIA:001879-9615: Cystinuria, type II - A in Canis lupus familiaris (dog), OMIA:001880-9615 : Cystinuria, type II - B in Canis lupus familiaris (dog), OMIA:001881-9615 : 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).

Clinical features

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.

Molecular genetics

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 the variant is present with lower allele frequencies in American Staffordshire Terrier, Australian Shepherd, German Shepherd Dog, Giant Schnauzer, Parson (Jack) Russell Terrier, Labrador Retriever, Large Munsterlander, Pomeranian, South African Boerboel, Weimaraner, Bulldogs and Black Russian Terriers breeds. Cosgrove, Hammond and Mclauchlan (2015) identified the variant in Spanish Water dogs.

History

All Dalmations are homozygous for a SLC2A9 mutation that causes hyperuricosuria and hyperuricemia and this mutation occurs at lower allele frequency in many other breeds.

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 220150 Disease · OMIM 612076 Gene · OMIM 606142

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:001033-9615, 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 83.

Neutrophil extracellular traps promote urolithiasis formation in dogs: A preliminary study. · Animals (Basel) · 2026 · PMID 41897919
Erstmaliger Nachweis des SLC2A9:p.C188F Gendefekts bei einem Deutschen Jagdterrier mit Ammoniumurat-Urolithiasis. [First detection of the SLC2A9:p.C188F gene defect in a German Hunting Terrier with ammonium urate urolithiasis]. · Tierarztl Prax Ausg K Kleintiere Heimtiere · 2024 · PMID 39173651
The incidence of genetic disease alleles in Australian Shepherd dog breed in European countries. · PLoS One · 2023 · PMID 36848350
Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. · Genome Biol · 2023 · PMID 37582787
Evaluación microscópica y estudio descriptivo de cristales y urolitos encontrados en el sistema de vías urinarias de perros y gatos [Microscopic evaluation and Descriptive study of crystals and uroliths encountered in the urinary tract system of cats and dogs] · Revista Científica de la Facultad de Ciencias Veterinarias · 2022
Association between hyperlipidemia and calcium oxalate lower urinary tract uroliths in dogs. · J Vet Intern Med · 2022 · PMID 34854133

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 Hyperuricosuria (HUU) and see the odds for their puppies. Single recessive variant, exact Mendelian math.

Parent A

Parent B

NNClear

NmCarrier

mmAffected

Clear25%

Carrier50%

Affected25%

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 Hyperuricosuria (HUU) looks like in your dog's breed.

Carrier frequency by breed

Top 25 well-sampled breeds (n ≥ 50)

Maximum carrier frequency per breed across variants in the Donner 2023 cohort, with Wilson 95% confidence intervals. 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%50%100%

Dalmatian92.7% · n 820

92.7%n 820

Bulldog Standard17.9% · n 4,816

17.9%n 4,816

Weimaraner14.6% · n 647

14.6%n 647

Schnauzer Giant12.2% · n 230

12.2%n 230

Bulldog American11.5% · n 540

11.5%n 540

Anatolian Shepherd Dog7.6% · n 66

7.6%n 66

American Staffordshire Terrier6.3% · n 42,793

6.3%n 42,793

Parson Russell Terrier5.5% · n 181

5.5%n 181

Boerboel5.2% · n 165

5.2%n 165

Greater Swiss Mountain Dog4.2% · n 59

4.2%n 59

Airedale Terrier4.0% · n 200

4.0%n 200

Australian Shepherd3.1% · n 2,296

3.1%n 2,296

Kromfohrlander3.0% · n 197

3.0%n 197

Argentine Dogo2.0% · n 225

2.0%n 225

Catahoula Leopard Dog1.9% · n 154

1.9%n 154

n = 53,389 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 Hyperuricosuria (HUU) is measured; phenotype outcome depends on penetrance and modifiers.

▸ Full table with Wilson 95% confidence intervals

Breed	Carrier frequency	Wilson 95% CI	n tested
Dalmatian	92.7%	[90.7%, 94.3%]	820
Bulldog Standard	17.9%	[16.8%, 19.0%]	4,816
Weimaraner	14.6%	[12.1%, 17.5%]	647
Schnauzer Giant	12.2%	[8.6%, 17.0%]	230
Bulldog American	11.5%	[9.1%, 14.4%]	540
Anatolian Shepherd Dog	7.6%	[3.3%, 16.5%]	66
American Staffordshire Terrier	6.3%	[6.1%, 6.5%]	42,793
Parson Russell Terrier	5.5%	[3.0%, 9.9%]	181
Boerboel	5.2%	[2.7%, 9.7%]	165
Greater Swiss Mountain Dog	4.2%	[1.3%, 12.7%]	59
Airedale Terrier	4.0%	[2.0%, 7.7%]	200
Australian Shepherd	3.1%	[2.5%, 3.9%]	2,296
Kromfohrlander	3.0%	[1.4%, 6.5%]	197
Argentine Dogo	2.0%	[0.8%, 4.8%]	225
Catahoula Leopard Dog	1.9%	[0.7%, 5.6%]	154
German Wirehaired Pointer	1.8%	[0.4%, 7.4%]	84
Lagotto Romagnolo	1.3%	[0.7%, 2.5%]	623
Spanish Water Dog	1.0%	[0.2%, 5.7%]	96
Danish Swedish Farmdog	0.82%	[0.1%, 7.4%]	61
Boston Terrier	0.81%	[0.6%, 1.2%]	3,702
Presa Canario	0.78%	[0.1%, 7.1%]	64
German Shorthaired Pointer	0.72%	[0.4%, 1.4%]	1,252
Belgian Malinois	0.72%	[0.4%, 1.4%]	1,186
Cane Corso	0.69%	[0.1%, 3.8%]	145
Russell Terrier	0.63%	[0.1%, 2.7%]	239

Top 25 of 52 well-sampled breeds with at least one observed carrier shown.

▸ Also observed in 9 small-sample breeds (n < 50)

Frequencies in this section are statistical estimates with wide Wilson 95% confidence intervals (typically >20 percentage points). Treat these as "carriers observed but the true population frequency is not yet measurable" rather than as comparable to the well-sampled entries above.

Breed	Estimate	Wilson 95% CI	n tested
Black Russian Terrier	21.7%	[9.7%, 41.9%]	23
Munsterlander Large	20.0%	[3.6%, 62.4%]	5
Schapendoes	20.0%	[10.9%, 33.8%]	45
Wirehaired Vizsla	16.7%	[1.8%, 69.0%]	3
Munsterlander Small	10.0%	[2.3%, 34.0%]	15
German Hunting Terrier	7.7%	[1.4%, 33.3%]	13
Maremma Sheepdog	6.8%	[2.1%, 19.5%]	37
Basset Fauve De Bretagne	1.9%	[0.2%, 15.5%]	27
Lacy Dog	1.6%	[0.2%, 13.3%]	32

205 additional breeds in the Donner 2023 cohort were tested but showed no carriers.

Penetrance

From genotype to phenotype

Carrier status is not the same as disease status. Penetrance is the fraction of at-risk dogs that 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

Predicted disease relevance at the per-dog level is UNPROVEN. The carrier frequency is measured; phenotype outcome is governed by penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.

How to cite this record

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:001033-9615.
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.

Sniff Atlas v1.0.1, the source dataset for these frequencies.
Browse breeds, per-breed Mendelian profiles, including this disease in context.
OMIA entry OMIA:001033-9615, authoritative clinical reference.
About OMIA, the catalogue this record comes from, and how Sniff uses it.

Last updated June 20, 2026

Sources: Sniff Atlas v1.0.1 · OMIA OMIA:001033-9615 · Donner et al. 2023