Beagle — Procoagulant expression; Canine Platelet Procoagulant Deficiency; Deficiency of Platelet Receptor for Factor X (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_beagle_procoagulant_expression_canine_platelet_procoagulant_deficie_dog category: companion-breed-health title: "Beagle — Procoagulant expression; Canine Platelet Procoagulant Deficiency; Deficiency of Platelet Receptor for Factor X (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/beagle_procoagulant_expression_canine_platelet_procoagulant_deficie_2693.txt date_parsed: 2026-08-02 tokens_estimated: 366 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_beagle_procoagulant_expression_canine_platelet_procoagulant_deficie_dog/01_companion_breed_health_beagle_procoagulant_expression_canine_platelet_procoagulant_deficie_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: "Beagle — Procoagulant expression; Canine Platelet Procoagulant Deficiency; Deficiency of Platelet Receptor for Factor X (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001353/9615/" 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

Beagle — Procoagulant expression; Canine Platelet Procoagulant Deficiency; Deficiency of Platelet Receptor for Factor X (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: Beagle (Dog)
• Disorder: Procoagulant expression; Canine Platelet Procoagulant Deficiency; Deficiency of Platelet Receptor for Factor X
• Mode of inheritance: Autosomal recessive
• Clin feat: In a clinical setting CSS typically manifests as post-operative bruising and haematoma formation with a few reports of nontraumatic haemorrhage into joints and soft tissue and epistaxis. These clinical signs differ from classic platelet defects; and as platelet count, coagulation amp; VWF screening tests are all normal, this makes diagnosis of a platelet procoagulant deficiency complicated (Jandrey et al., 2012). [IT thanks DVM student Alexandra Norris, who provided the basis of this contribution in April 2022]
• Defect: yes
• Pathology: The pathology of CSS is characterised by a deficiency of platelet procoagulant activity. Affected dogs have normal fluid phase coagulation and normal platelet aggregation and secretion (Brooks et al., 2002). However, their platelets fail to catalyse the conversion of prothrombin to thrombin (prothrombinase activity), thus inhibiting initiation of the coagulation cascade (Brooks et al., 2006). Platelets also failed to express phosphatidylserine on their cell membranes and formed abnormal microvesiculations (Jandrey et al., 2012). [IT thanks DVM student Alexandra Norris, who provided the basis of this contribution in April 2022]

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: TMEM16F (Entrez Gene ID 388252255) — OMIA Phene_Gene / GeneSynonym
• OMIA molecular-genetics note: Brooks et al. (2015) reported that the likely causal variant for this disorder in German shepherd dogs is a splice-site mutation g.8912219 G&gt;A in the TMEM16F gene (also known as ANO6).

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.

• 2002. A hereditary bleeding disorder of dogs caused by a lack of platelet procoagulant activity. Blood — PubMed:PMID11895776 | DOI:10.1182/blood.v99.7.2434 — OMIA Phene_Article / Article
• 2010. A genome-wide linkage scan in German shepherd dogs localizes canine platelet procoagulant deficiency (Scott syndrome) to canine chromosome 27. Gene — PubMed:PMID19854246 | DOI:10.1016/j.gene.2009.09.016 — OMIA Phene_Article / Article
• 2009. Evaluation of platelet function screening tests to detect platelet procoagulant deficiency in dogs with Scott syndrome. Vet Clin Pathol — PubMed:PMID19351331 | DOI:10.1111/j.1939-165X.2009.00141.x — OMIA Phene_Article / Article
• 2008. Exclusion of ABCA-1 as a candidate gene for canine Scott syndrome. J Thromb Haemost — PubMed:PMID15761668 | DOI:10.1007/s00018-005-4527-3 — OMIA Phene_Article / Article
• 2007. Scott syndrome dogs have impaired coated-platelet formation and calcein-release but normal mitochondrial depolarization. J Thromb Haemost — PubMed:PMID17723137 | DOI:10.1111/j.1538-7836.2007.02683.x — OMIA Phene_Article / Article
• 2012. Clinical characterization of canine platelet procoagulant deficiency (Scott syndrome). J Vet Intern Med — PubMed:PMID23061683 | DOI:10.1111/j.1939-1676.2012.01012.x — OMIA Phene_Article / Article
• 2015. A TMEM16F point mutation causes an absence of canine platelet TMEM16F and ineffective activation and death-induced phospholipid scrambling. J Thromb Haemost — PubMed:PMID26414452 | DOI:10.1111/jth.13157 — OMIA Phene_Article / Article
• 2006. Scott syndrome dogs demonstrate a failure of coated-platelet formation. Blood — DOI:doi.org/10.1182/blood.V108.11.1104.1104 — OMIA Phene_Article / Article
• 2023. Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLoS Genet — PubMed:PMID36848397 | DOI:10.1371/journal.pgen.1010651 — OMIA Phene_Article / Article
• 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article
• 2023. Clinical assessment of primary hemostasis: A review. Top Companion Anim Med — PubMed:PMID37673175 | DOI:10.1016/j.tcam.2023.100818 — OMIA Phene_Article / Article

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:262890 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:608663 (type: gene) — 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."