How is Factor XI Deficiency inherited in dogs?

Factor XI Deficiency follows a Autosomal dominant inheritance pattern, associated with the F11 gene.

Is there a genetic test for Factor XI Deficiency?

Factor XI Deficiency is associated with the F11 gene. Where a validated DNA test for the causal variant is available, it can identify dogs carrying the variant before breeding. Per-breed variant frequency figures are published in the Sniff Atlas (242,664 dogs screened).

What is the human equivalent of Factor XI Deficiency?

OMIA links Factor XI Deficiency to its human counterpart in OMIM (OMIM 612416), the bridge to the deeper human-medicine literature for the same underlying biology.

How well studied is Factor XI Deficiency in dogs?

OMIA curates 7 peer-reviewed references for Factor XI Deficiency. The full, linked citation list is on this page.

Canine Mendelian disease record

Factor XI Deficiency

Factor XI Deficiency. Autosomal dominant. Observed in 0 of 266 breeds tested in the Sniff Atlas, with measured variant frequencies drawn from 242,664 dogs (Donner 2023). Whether a dog carrying this variant is at risk depends on the disease’s inheritance pattern; outcome also depends on penetrance, modifiers, and environment. The frequencies below describe variant prevalence, not confirmed disease incidence.

OMIA identifier: OMIA:000363-9615
Inheritance: Autosomal dominant
Linked gene: F11
Human counterpart: In humans, this gene is F11. In people, F11 appears tolerant of loss-of-function variation (gnomAD v4.1 constraint, LOEUF 1.15). Constraint measures intolerance to loss-of-function only and does not indicate importance; some tolerant genes cause disease through other mechanisms. In people, variants in the F11 gene have conflicting classifications in ClinVar, and none is expert-reviewed. The evidence is unsettled, not that variants here are benign.
Source dataset: Sniff Atlas v1.0.1 / DOI

The human connection

A model of human congenital factor XI deficiency

Dogs with this condition carry a change in F11. In people, changes in the same gene cause congenital factor XI deficiency. 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: Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.

In humans it is also called: factor XI deficiency, autosomal dominant, factor XI deficiency, autosomal recessive, hemophilia C, hereditary Factor XI deficiency, hereditary factor XI deficiency.

MONDO:0012897 OMIM 612416

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

Congenital factor XI deficiency / F11 deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. [Orphanet : 329] The disease is also called plasma thromboplastin antecedent (PTA) deficiency, haemophilia C, or Rosenthal syndrome.

Clinical features

Congenital Factor XI deficiency is characterised by abnormal haemostasis and excessive bleeding, usually following trauma or surgery. Clinical signs of abnormal haemostasis and excessive bleeding include bruising, epistaxis, and menorrhagia (Fogh and Fogh, 1988). Affected dogs have significantly decreased Factor XI activity levels (less than 10%), heterozygous/carrier dogs have decreased Factor XI activity levels, (25-50%) but appear to be asymptomatic (Fogh and Fogh, 1988). IT thanks DVM student Su Han Thia, who provided the basis of this contribution in May 2023.

Molecular genetics

A molecular basis for this disorder was first reported by Tcherneva et al. (2007): "the 7th coding exon differs between normal and affected animals. It is normally 110 bp long, but in affected KBTs it contains a short interspersed nucleotide element (SINE) insertion. This exonic SINE is 90 bp long, consisting mostly of adenines coding for lysine which is presumed to affect the 3rd apple domain of the FXI gene."

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 612416 Gene · OMIM 264900

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:000363-9615, 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 congenital factor XI deficiency (MONDO:0012897).

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 7.

Factor XI deficiency in animal models. · J Thromb Haemost · 2009 · PMID 19630774
Molecular base of coagulation factor XI deficiency in Kerry Blue terrier. · Bulgarian Journal of Veterinary Medicine · 2007
Coagulation factor XI deficiency in Kerry blue terrier dogs is caused by an exonic sine insertion. · Journal of Veterinary Internal Medicine · 2006
Factor XI deficiency in Kerry Blue Terriers · Journal of the American Veterinary Medical Association · 1994 · PMID 7730123
Inherited coagulation disorders. · Vet Clin North Am Small Anim Pract · 1988 · PMID 3282382
Hereditary and acquired hemorrhagic disorders in animals. · Prog Hemost Thromb · 1974 · PMID 4604529

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.

Your breed

See what Factor XI Deficiency looks like in your dog's breed.

Variant frequency by breed

Observed only in small-sample breeds

Maximum variant 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.

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 variant 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:000363-9615.
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.

Gene page: F11, cited identity, disease associations, and the human-gene bridge.
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:000363-9615, authoritative clinical reference.
About OMIA, the catalogue this record comes from, and how Sniff uses it.

Last updated July 20, 2026

Sources: Sniff Atlas v1.0.1 · OMIA OMIA:000363-9615 · Donner et al. 2023 · gnomAD v4.1 (Karczewski 2020) · ClinVar (Landrum 2018)