How is Canine Scott Syndrome (CSS) inherited in dogs?

Canine Scott Syndrome (CSS) follows a Autosomal recessive inheritance pattern. It has been observed in 10 of 266 breeds screened in the Sniff Atlas.

What is the human equivalent of Canine Scott Syndrome (CSS)?

OMIA links Canine Scott Syndrome (CSS) to its human counterpart in OMIM (OMIM 262890), the bridge to the deeper human-medicine literature for the same underlying biology.

How well studied is Canine Scott Syndrome (CSS) in dogs?

OMIA curates 10 peer-reviewed references for Canine Scott Syndrome (CSS). The full, linked citation list is on this page.

Canine Mendelian disease record

Canine Scott Syndrome (CSS)

Canine Scott Syndrome (CSS). Autosomal recessive. Observed in 10 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,663 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:001353-9615
Inheritance: Autosomal recessive
Variant pathogenicity: Pathogenic
Source dataset: Sniff Atlas v1.0.1 / DOI

The Pathogenic grade describes the documented variant's causality, per the Animal Variant Classification Guidelines (AVCG; Boeykens et al. 2024, Front Vet Sci), an ACMG/AMP-style framework curated in OMIA. It grades the variant, not any individual dog. See the full classification table.

The human connection

A model of human Scott syndrome

This is the canine counterpart of Scott syndrome 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 people, the disease is described as: Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.

In humans it is also called: BDPLT7, SCTS, Platelet factor X receptor deficiency, prothrombin consumption deficiency.

MONDO:0009885 OMIM 262890

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.

Summary

Bleeding abnormality due to deficiency of platelet binding of factor X

Clinical features

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 & 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]

Molecular genetics

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>A in the TMEM16F gene (also known as ANO6).

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]

Inheritance

Autosomal recessive inheritance was indicated by the segregation analysis of Brooks et al. (2010).

History

This disorder was first documented in dogs by Brooks et al. (2002).

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 262890 Gene · OMIM 608663

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:001353-9615, 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 Scott syndrome (MONDO:0009885).

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. Showing 6 of 10.

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
A TMEM16F point mutation causes an absence of canine platelet TMEM16F and ineffective activation and death-induced phospholipid scrambling. · J Thromb Haemost · 2015 · PMID 26414452
Clinical characterization of canine platelet procoagulant deficiency (Scott syndrome). · J Vet Intern Med · 2012 · PMID 23061683
A genome-wide linkage scan in German shepherd dogs localizes canine platelet procoagulant deficiency (Scott syndrome) to canine chromosome 27. · Gene · 2010 · PMID 19854246
Evaluation of platelet function screening tests to detect platelet procoagulant deficiency in dogs with Scott syndrome. · Vet Clin Pathol · 2009 · PMID 19351331

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 Canine Scott Syndrome (CSS) 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 Canine Scott Syndrome (CSS) looks like in your dog's breed.

Carrier frequency by breed

Top 10 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%5%10%

Presa Canario1.6% · n 64

1.6%n 64

German Shepherd1.3% · n 15,648

1.3%n 15,648

Belgian Malinois0.34% · n 1,186

0.34%n 1,186

Chinese Crested0.25% · n 204

0.25%n 204

Labrador Retriever<0.1% · n 16,855

<0.1%n 16,855

Australian Cattle Dog<0.1% · n 982

<0.1%n 982

Great Pyrenees<0.1% · n 1,985

<0.1%n 1,985

American Staffordshire Terrier<0.1% · n 42,793

<0.1%n 42,793

Siberian Husky<0.1% · n 9,035

<0.1%n 9,035

Beagle<0.1% · n 5,292

<0.1%n 5,292

n = 94,044 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 Canine Scott Syndrome (CSS) is measured; phenotype outcome depends on penetrance and modifiers.

▸ Full table with Wilson 95% confidence intervals

Breed	Carrier frequency	Wilson 95% CI	n tested
Presa Canario	1.6%	[0.3%, 8.3%]	64
German Shepherd	1.3%	[1.1%, 1.5%]	15,648
Belgian Malinois	0.34%	[0.1%, 0.9%]	1,186
Chinese Crested	0.25%	[0.0%, 2.3%]	204
Labrador Retriever	<0.1%	[0.1%, 0.1%]	16,855
Australian Cattle Dog	<0.1%	[0.0%, 0.5%]	982
Great Pyrenees	<0.1%	[0.0%, 0.3%]	1,985
American Staffordshire Terrier	<0.1%	[0.0%, 0.0%]	42,793
Siberian Husky	<0.1%	[0.0%, 0.1%]	9,035
Beagle	<0.1%	[0.0%, 0.1%]	5,292

256 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: 2
Phenotype confirmed: 1
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:001353-9615.
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:001353-9615, 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:001353-9615 · Donner et al. 2023