How is Prekallikrein Deficiency inherited in dogs?

Prekallikrein Deficiency follows a Autosomal recessive inheritance pattern. It has been observed in 12 of 266 breeds screened in the Sniff Atlas.

What is the human equivalent of Prekallikrein Deficiency?

OMIA links Prekallikrein Deficiency to its human counterpart in OMIM (OMIM 612423), the bridge to the deeper human-medicine literature for the same underlying biology.

How well studied is Prekallikrein Deficiency in dogs?

OMIA curates 4 peer-reviewed references for Prekallikrein Deficiency. The full, linked citation list is on this page.

Canine Mendelian disease record

Prekallikrein Deficiency

Prekallikrein Deficiency. Autosomal recessive. Observed in 12 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,664 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:000819-9615
Inheritance: Autosomal recessive
Source dataset: Sniff Atlas v1.0.1 / DOI

The human connection

A model of human inherited prekallikrein deficiency

This is the canine counterpart of inherited prekallikrein deficiency 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: An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome.

In humans it is also called: congenital prekallikrein deficiency, fletcher factor (prekallikrein) deficiency, hereditary prekallikrein deficiency, prekallikrein deficiency, congenital.

MONDO:0012901 OMIM 612423

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

In humans also called Fletcher factor deficiency

Clinical features

Prekallikrein (PK) is a protein that is involved in the blood clotting process. As a result, dogs with a PK deficiency experience prolonged activated partial thromboplastin Time (aPPT) (Okawa et al., 2011). This disorder is often asymptomatic in the absence of other clotting factor deficiencies (Chin et al., 1986). Classical signs of haemostatic disorders such as haematuria and prolonged bleeding or healing times after surgery have been reported but are unlikely unless there is concurrent disease (Chinn et al. 1986). Gastrointestinal bleeding has also been reported in a dog with this disorder (Otto et al., 1991). IT thanks DVM student Eloise O’Connor, who provided the basis of this contribution in May 2023.

Molecular genetics

Okawa et al. (2011) "describe a case of a dog that was referred for neurological defects and had a prolonged activated partial thromboplastin time (aPTT) and normal prothrombin time (PT) with no hemostatic defects. By using human PK-deficient plasma, the dog was diagnosed to have PK deficiency. The nucleotide sequence of normal canine PK cDNA was determined and compared with the genomic sequences of PK in the affected dog. The comparison revealed that the dog had a point mutation in exon 8 that leads to an amino acid substitution in the fourth apple domain of PK."

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 612423 Gene · OMIM 229000

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:000819-9615, 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 inherited prekallikrein deficiency (MONDO:0012901).

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.

Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. · Genome Biol · 2023 · PMID 37582787
Prekallikrein deficiency in a dog. · J Vet Med Sci · 2011 · PMID 20736516
Factor-XII and partial prekallikrein deficiencies in a dog with recurrent gastrointestinal hemorrhage. · J Am Vet Med Assoc · 1991 · PMID 1995570
Prekallikrein deficiency in a dog. · J Am Vet Med Assoc · 1986 · PMID 3632973

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 Prekallikrein Deficiency 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 Prekallikrein Deficiency looks like in your dog's breed.

Carrier frequency by breed

Top 12 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%10%20%

Shih Tzu10.5% · n 7,527

10.5%n 7,527

Lhasa Apso3.5% · n 243

3.5%n 243

Maltese0.52% · n 2,413

0.52%n 2,413

Chinese Crested0.25% · n 204

0.25%n 204

Cavalier King Charles Spaniel0.13% · n 2,243

0.13%n 2,243

Havanese0.11% · n 441

0.11%n 441

Chihuahua0.11% · n 4,273

0.11%n 4,273

Schnauzer Miniature<0.1% · n 4,638

<0.1%n 4,638

Yorkshire Terrier<0.1% · n 8,367

<0.1%n 8,367

Pomeranian<0.1% · n 5,294

<0.1%n 5,294

Pug<0.1% · n 5,154

<0.1%n 5,154

Siberian Husky<0.1% · n 9,034

<0.1%n 9,034

n = 49,831 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 Prekallikrein Deficiency is measured; phenotype outcome depends on penetrance and modifiers.

▸ Full table with Wilson 95% confidence intervals

Breed	Carrier frequency	Wilson 95% CI	n tested
Shih Tzu	10.5%	[9.8%, 11.2%]	7,527
Lhasa Apso	3.5%	[1.8%, 6.6%]	243
Maltese	0.52%	[0.3%, 0.9%]	2,413
Chinese Crested	0.25%	[0.0%, 2.3%]	204
Cavalier King Charles Spaniel	0.13%	[0.0%, 0.4%]	2,243
Havanese	0.11%	[0.0%, 1.1%]	441
Chihuahua	0.11%	[0.0%, 0.3%]	4,273
Schnauzer Miniature	<0.1%	[0.0%, 0.2%]	4,638
Yorkshire Terrier	<0.1%	[0.0%, 0.1%]	8,367
Pomeranian	<0.1%	[0.0%, 0.1%]	5,294
Pug	<0.1%	[0.0%, 0.1%]	5,154
Siberian Husky	<0.1%	[0.0%, 0.1%]	9,034

254 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:000819-9615.
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:000819-9615, 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:000819-9615 · Donner et al. 2023