Old English Sheepdog — Primary ciliary dyskinesia (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_old_english_sheepdog_primary_ciliary_dyskinesia_dog category: companion-breed-health title: "Old English Sheepdog — Primary ciliary dyskinesia (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/old_english_sheepdog_primary_ciliary_dyskinesia_3042.txt date_parsed: 2026-08-02 tokens_estimated: 303 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_old_english_sheepdog_primary_ciliary_dyskinesia_dog/01_companion_breed_health_old_english_sheepdog_primary_ciliary_dyskinesia_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: "Old English Sheepdog — Primary ciliary dyskinesia (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001540/9615/" 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

Old English Sheepdog — Primary ciliary dyskinesia (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: Old English Sheepdog (Dog)
• Disorder: Primary ciliary dyskinesia
• Mode of inheritance: Autosomal recessive
• 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].
• Clin feat: As reported by Merveille et al. (2014), Clinical findings were recurrent nasal discharge and cough, pyrexia, leucocytosis, and bronchopneumonia.
• Defect: yes
• 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%).

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: Entrez Gene ID 3485550 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: 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 t…

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.

• 2000. Use of ciliogenesis in the diagnosis of primary ciliary dyskinesia in a dog. Journal of the American Veterinary Medical Association — PubMed:PMID11110460 — OMIA Phene_Article / Article
• 2011. 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 — PubMed:PMID21131972 | DOI:10.1038/ng.726 — OMIA Phene_Article / Article
• 1984. Immotile cilia syndrome in two Old-English sheep dog littermates. J. Small Anim. Pract. — OMIA Phene_Article / Article
• 2014. Clinical findings and prevalence of the mutation associated with primary ciliary dyskinesia in old English sheepdogs. J Vet Intern Med — PubMed:PMID24773602 | DOI:10.1111/jvim.12336 — 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:613807 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:613798 (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."