Canine Mendelian disease record

Primary Ciliary Dyskinesia (Discovered in the Old English Sheepdog; CCDC39-related PCD)

Q: What is the human equivalent of Primary Ciliary Dyskinesia (Discovered in the Old English Sheepdog; CCDC39-related PCD)?

OMIA links Primary Ciliary Dyskinesia (Discovered in the Old English Sheepdog; CCDC39-related PCD) to its human counterpart in OMIM (OMIM 613807), the bridge to the deeper human-medicine literature for the same underlying biology.

Q: How well studied is Primary Ciliary Dyskinesia (Discovered in the Old English Sheepdog; CCDC39-related PCD) in dogs?

OMIA curates 4 peer-reviewed references for Primary Ciliary Dyskinesia (Discovered in the Old English Sheepdog; CCDC39-related PCD). The full, linked citation list is on this page.

Primary Ciliary Dyskinesia (Discovered in the Old English Sheepdog; CCDC39-related PCD). Autosomal recessive. Observed in 2 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:001540-9615
Inheritance: Autosomal recessive
Source dataset: Sniff Atlas v1.0.1 / DOI

The human connection

A model of human primary ciliary dyskinesia 14

This is the canine counterpart of primary ciliary dyskinesia 14 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: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene.

In humans it is also called: CILD14, CCDC39 primary ciliary dyskinesia, ciliary dyskinesia, primary, 14, ciliary dyskinesia, primary, type 14, primary ciliary dyskinesia type 14.

MONDO:0013434 OMIM 613807

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

Several types of primary ciliary dyskinesia exist. See also 'OMIA002206-9615 : Ciliary dyskinesia, primary, NME5-related in Canis lupus familiaris' and 'OMIA000573-9615 : Ciliary dyskinesia, primary, generic in Canis lupus familiaris'. Previously, references to case reports of dogs with primary ciliary dyskinesia with unknown genetic cause were listed here, but these have been moved to the generic entry for this disease [3/6/2022].

Clinical features

As reported by Merveille et al. (2014), "Clinical findings were recurrent nasal discharge and cough, pyrexia, leucocytosis, and bronchopneumonia."

Molecular genetics

Sequencing of the six most-likely candidate genes in the CFA34 candidate region (see Mapping section) region identified a nonsense mutation in the CCDC39 gene, which encodes coiled-coil domain-containing protein 39. By searching for CCDC39 mutations in PCD cases in humans (where PCD is a heterogeneous inherited disorder), they were able to identify a new cause of human PCD. This study highlights the power of canine genomic studies to inform knowledge of human inherited disorders that are genetically heterogeneous.

Prevalence

After genotyping "578 OES [Old English Sheepdogs], including 28 affected and 550 clinically healthy dogs" for the mutation discovered by Merveille et al. (2011) (see Molecular section), Merveille et al. (2014) reported that ""The mutation was more frequent in nonrandomly selected European OES population with a higher proportion of carriers (19%) compared to non-European dogs (7%).

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 613807 Gene · OMIM 613798

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:001540-9615, 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 primary ciliary dyskinesia 14 (MONDO:0013434).

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.

Clinical findings and prevalence of the mutation associated with primary ciliary dyskinesia in old English sheepdogs. · J Vet Intern Med · 2014 · PMID 24773602
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. · Nat Genet · 2011 · PMID 21131972
Use of ciliogenesis in the diagnosis of primary ciliary dyskinesia in a dog · Journal of the American Veterinary Medical Association · 2000 · PMID 11110460
Immotile cilia syndrome in two Old-English sheep dog littermates. · J. Small Anim. Pract. · 1984

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 Primary Ciliary Dyskinesia (Discovered in the Old English Sheepdog; CCDC39-related PCD) 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 Primary Ciliary Dyskinesia (Discovered in the Old English Sheepdog; CCDC39-related PCD) looks like in your dog's breed.

Carrier frequency by breed

Top 2 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%3%5%

Old English Sheepdog1.4% · n 423

1.4%n 423

Maltese<0.1% · n 2,413

<0.1%n 2,413

n = 2,836 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 Primary Ciliary Dyskinesia (Discovered in the Old English Sheepdog; CCDC39-related PCD) is measured; phenotype outcome depends on penetrance and modifiers.

▸ Full table with Wilson 95% confidence intervals

Breed	Carrier frequency	Wilson 95% CI	n tested
Old English Sheepdog	1.4%	[0.7%, 3.1%]	423
Maltese	<0.1%	[0.0%, 0.3%]	2,413

264 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:001540-9615.
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:001540-9615, 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:001540-9615 · Donner et al. 2023