--- license: permission_granted topic_id: companion_breed_health_clumber_spaniel_omia2765_dog category: companion-breed-health title: "Clumber Spaniel — Pyruvate dehydrogenase deficiency (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/clumber_spaniel_omia2765_2765.txt date_parsed: 2026-08-02 tokens_estimated: 458 verification: method: substring_match claims: 10 passed: 10 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_clumber_spaniel_omia2765_dog/01_companion_breed_health_clumber_spaniel_omia2765_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: "Clumber Spaniel — Pyruvate dehydrogenase deficiency (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001406/9615/" 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
Clumber Spaniel — Pyruvate dehydrogenase deficiency (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: Clumber Spaniel (Dog)Disorder:Mode of inheritance: Autosomal recessiveSummary: Deficiency in pyruvate dehydrogenase phosphatase 1 in Clumber and Sussex Spaniels is characterized by exercise intolerance, lactic acidosis, and collapse after exercise. The causative mutation is the same in these breeds. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACTClin feat: Affected dogs show exercise intolerance, lactic acidosis, and post-exercise collapse. Management includes exercise restriction and a high-fat diet with thiamine and carnitine supplementation (Cameron et al., 2007).Defect: yesPathology: PDP1 is a key component of the pyruvate dehydrogenase complex (PDHC) that controls the rate of tricarboxylic acid entry into the citric acid cycle. During exercise, large quantities of lactate and pyruvate are generated through the anaerobic pathway. PDP1 deficiency causes severe reduction in pyruvate entry into the citric acid cycle, leading to insufficient generation of ATP and lactate and pyruvate acidosis when muscle is exercised (Cameron et al., 2007).Prevalence: Of 100 Clumber Spaniels tested, 20 were carriers and 1 was homozygous for the mutation. There is thought to be a high frequency of heterozygotes amongst Clumber Spaniels, but fewer affected dogs alive than expected. This suggests that affected dogs may be at risk for prenatal or neonatal mortality (Cameron et al., 2007).Control: Since the Clumber and Sussex Spaniel gene pools are small in the USA, gradual elimination of the mutation can be achieved by testing all dogs prior to breeding, and to breeding carriers only to noncarriers. Breeding of affected dogs should be avoided.Gen test: There is a test available to identify carrier and affected dogs.
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: PPM2C (Entrez Gene ID 3478038) — OMIA Phene_Gene / GeneSynonym
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.
- 1979. Collapsing Clumber Spaniels. Veterinary Record — PubMed:PMID516334 — OMIA Phene_Article / Article
- 2004. Pyruvate dehydrogenase deficiency in a Sussex spaniel. J Small Anim Pract — PubMed:PMID15049576 — OMIA Phene_Article / Article
- 1980. Mitochondrial myopathy in the Sussex spaniel. Vet Rec — PubMed:PMID7361423 — OMIA Phene_Article / Article
- 2000. Pyruvate dehydrogenase deficiency in Clumber and Sussex spaniels in the United States and Belgium. J. Vet. Intern. Med. — OMIA Phene_Article / Article
- 1979. Collapsing Clumber spaniels. Vet Rec — PubMed:PMID552740 — OMIA Phene_Article / Article
- 2007. Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. Mol Genet Metab — PubMed:PMID17095275 | DOI:10.1016/j.ymgme.2006.09.011 — 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:608782 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:605993 (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."