Canine Mendelian disease record

Bleeding disorder (Discovered in the Greater Swiss Mountain Dog; P2RY12-related)

Q: What is the human equivalent of Bleeding disorder (Discovered in the Greater Swiss Mountain Dog; P2RY12-related)?

OMIA links Bleeding disorder (Discovered in the Greater Swiss Mountain Dog; P2RY12-related) to its human counterpart in OMIM (OMIM 609821), the bridge to the deeper human-medicine literature for the same underlying biology.

Q: How well studied is Bleeding disorder (Discovered in the Greater Swiss Mountain Dog; P2RY12-related) in dogs?

OMIA curates 5 peer-reviewed references for Bleeding disorder (Discovered in the Greater Swiss Mountain Dog; P2RY12-related). The full, linked citation list is on this page.

Bleeding disorder (Discovered in the Greater Swiss Mountain Dog; P2RY12-related). Autosomal recessive. Observed in 9 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,653 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:001564-9615
Inheritance: Autosomal recessive
Source dataset: Sniff Atlas v1.0.1 / DOI

The human connection

A model of human platelet-type bleeding disorder 8

Dogs with this condition carry a change in P2RY12. In people, changes in the same gene cause platelet-type bleeding disorder 8. 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 people, the disease is described as: P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.

In humans it is also called: BDPLT8, bleeding disorder, platelet-type 8, bleeding disorder, platelet-type, 8.

MONDO:0012354 OMIM 609821

Mapped from OMIA via the human disease's OMIM entry to the Mondo Disease Ontology (Monarch Initiative, CC-BY 4.0). 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.

Clinical features

Flores et al. (2017) report that affected dogs have prolonged buccal mucosal bleeding time, tachycardia, pallor, decreased PCV and peritoneal effusion postoperatively. Boudreaux and Martin (2011) suggest that spontaneous haemorrhage is absent to mild in affected dogs but that excessive (and potentially fatal) bleeding can occur after surgical procedures or trauma. Diagnostic tests such as platelet counts, coagulation screening assays (PT & APTT) and von Willebrand factor antigen activity tests have returned as normal in the reported cases (Boudreaux and Martin, 2011). However, flow cytometric studies have shown that affected dogs’ platelets have a markedly reduced response to ADP (Flores et al., 2017). IT thanks DVM student Emily Pratten, who provided the basis of this contribution in May 2023.

Molecular genetics

Boudreaux and Martin and (2011) reported the causal mutation as being "a 3 base-pair deletion predicted to result in elimination of a serine from the extracellular domain was identified in the gene encoding P2RY12, an ADP receptor protein located on platelet membranes". Flores et al. (2017) report a single Greater Swiss Mountain dog that was heterozygous for the P2Y12 receptor gene mutation that developed severe bleeding after surgery. The authors did not exclude compound heterozygosity (presence of a second variant in the same gene). Dogs that are heterozygous for the known P2RY12 mutation may therefore at risk of developing disease, but it remains unclear if this is due to a different mode of inheritance or the existence of a second disease causing variant in the population.

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 609821 Gene · OMIM 600515

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:001564-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

Signs & cross-references

How it presents

Catalogued in the Mondo disease ontology (the cross-species disease identity used by the Monarch Initiative) as platelet-type bleeding disorder 8 (MONDO:0012354).

Phenotype terms: Human Phenotype Ontology + Mammalian Phenotype Ontology; disease terms: Mondo (Monarch Initiative). Cross-references curated by OMIA (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.

Prophylactic use of a lyophilized platelet product for rhinoscopic diagnosis and treatment of sinonasal aspergillosis in a dog with a P2Y12 platelet receptor mutation. · J Vet Emerg Crit Care (San Antonio) · 2023 · PMID 36815741
Clinical assessment of primary hemostasis: A review. · Top Companion Anim Med · 2023 · PMID 37673175
Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. · Genome Biol · 2023 · PMID 37582787
Heterozygosity for P2Y12 receptor gene mutation associated with postoperative hemorrhage in a Greater Swiss Mountain dog. · Vet Clin Pathol · 2017 · PMID 28800150
P2Y12 receptor gene mutation associated with postoperative hemorrhage in a Greater Swiss Mountain dog. · Vet Clin Pathol · 2011 · PMID 21554368

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 Bleeding disorder (Discovered in the Greater Swiss Mountain Dog; P2RY12-related) 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 Bleeding disorder (Discovered in the Greater Swiss Mountain Dog; P2RY12-related) looks like in your dog's breed.

Carrier frequency by breed

Top 9 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%25%50%

Greater Swiss Mountain Dog21.2% · n 59

21.2%n 59

Bichon Frise3.6% · n 1,069

3.6%n 1,069

Havanese0.11% · n 441

0.11%n 441

Poodle Miniature<0.1% · n 3,555

<0.1%n 3,555

Boston Terrier<0.1% · n 3,701

<0.1%n 3,701

Boxer<0.1% · n 4,557

<0.1%n 4,557

Maltese<0.1% · n 2,412

<0.1%n 2,412

Yorkshire Terrier<0.1% · n 8,367

<0.1%n 8,367

American Staffordshire Terrier<0.1% · n 42,791

<0.1%n 42,791

n = 66,952 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 Bleeding disorder (Discovered in the Greater Swiss Mountain Dog; P2RY12-related) is measured; phenotype outcome depends on penetrance and modifiers.

▸ Full table with Wilson 95% confidence intervals

Breed	Carrier frequency	Wilson 95% CI	n tested
Greater Swiss Mountain Dog	21.2%	[12.7%, 33.2%]	59
Bichon Frise	3.6%	[2.6%, 4.8%]	1,069
Havanese	0.11%	[0.0%, 1.1%]	441
Poodle Miniature	<0.1%	[0.0%, 0.2%]	3,555
Boston Terrier	<0.1%	[0.0%, 0.2%]	3,701
Boxer	<0.1%	[0.0%, 0.2%]	4,557
Maltese	<0.1%	[0.0%, 0.2%]	2,412
Yorkshire Terrier	<0.1%	[0.0%, 0.1%]	8,367
American Staffordshire Terrier	<0.1%	[0.0%, 0.0%]	42,791

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

Scope of this record

This record carries the breed-level carrier frequencies from the Donner 2023 cohort. Penetrance data (the fraction of at-risk dogs that develop the phenotype) is not yet quantified for this disease in the Sniff Atlas v1.0.1. The OMIA entry is the authoritative reference for the clinical phenotype, inheritance pattern, and gene assignment.

Predicted disease relevance at the per-dog level is UNPROVEN. The carrier frequency is measured; phenotype outcome depends on 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:001564-9615.
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:001564-9615, 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:001564-9615 · Donner et al. 2023