{"topic_id":"companion_breed_health_english_springer_spaniel_omia4980_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_english_springer_spaniel_omia4980_dog\ncategory: companion-breed-health\ntitle: \"English Springer Spaniel — Dyserythropoietic anemia and myopathy syndrome (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"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.\"\nsource_file: pdf-raw/breed-health/english_springer_spaniel_omia4980_4980.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 872\nverification:\n  method: substring_match\n  claims: 6\n  passed: 6\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_english_springer_spaniel_omia4980_dog/01_companion_breed_health_english_springer_spaniel_omia4980_dog.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"English Springer Spaniel — Dyserythropoietic anemia and myopathy syndrome (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002564/9615/\"\n  retrieved: \"2026-08-02\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\n\n# English Springer Spaniel — Dyserythropoietic anemia and myopathy syndrome (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: English Springer Spaniel (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Clin feat: Holland et al. (1991) A polysystemic disorder was observed in three related English Springer Spaniel dogs that demonstrated regurgitation from an early age, slowly progressive temporal muscle atrophy with partial trismus, and less pronounced generalized skeletal muscle atrophy. All dogs exhibited moderate dyserythropoietic anemia, polymyopathy with megaesophagus, and varying degrees of cardiomegaly. Østergård Jensen et al. (2022) investigated five affected Swedish ESSPs, as well as tissue samples from two puppies who died within the first day: all dogs affected with DAMS appeared slightly stunted, less well muscled, and less active compared to their littermates during the first few weeks of life. ... [The dogs presented later with] exercise intolerance, weakness, and regurgitation from puppyhood. In addition, difficulties opening and closing the mouth, dysphagia, and difficulty in lapping water ... , as well as aspiration pneumonia ... , seizures ... , and chronic diarrhea ... , were noted in the affected juvenile dogs. The affected dogs were 0.7 to 4 years of age at the initial examination and were followed over a period from two months to three years. ... Progressive weakness, muscle atrophy—particularly of the temporal and pelvic muscles—trismus, dysphagia, and regurgitation due to megaesophagus were observed at all ages. Affected dogs had a non-regenerative, microcytic hypochromic anemia with metarubricytosis, target cells, and acanthocytes. Marked erythroid hyperplasia and dyserythropoiesis with non-orderly maturation of erythrocytes and inappropriate microcytic metarubricytosis were present. ... The five affected dogs ... were euthanized at approximately 1, 1.5, 5, 7, and 7.5 years of age, respectively, due to failure to thrive, progressive clinical signs, and poor quality of life. ... [The] two puppies (in a litter of nine) that died shortly after birth were homozygous for the EHBP1L1 variant. ... These neonatal losses indicate that EHBP1L1 deficiency could also be a cause of neonatal death in dogs, but the specific cause of death was not determined. Thomas-Hollands et al. (2021): Two Labrador retriever littermates were identified based on incidentally noted marked microcytosis and inappropriate metarubricytosis. Muscle atrophy was noted and associated with distinctive pathological findings in biopsy samples from 1 dog studied. ... the dogs ... did not have apparent cardiac disease.`\n- `Defect: yes`\n- `Pathology: Østergård Jensen et al. (2022): Muscle biopsies [of affected ESSP] showed centralized nuclei, central pallor, lipocyte infiltrates, and fibrosis, which was consistent with centronuclear myopathy. Thomas-Hollands et al. (2021): Muscle biopsy samples [of an affected Labrador] were collected from the contralateral right biceps, triceps, and frontalis muscles. ... Prominent findings are variability in myofiber size, central nuclei ..., and central accumulations of reactivity that are basophilic with the HE stain and red with the modified Gomori trichrome stain, and dark brown or dark blue with the cytochrome C oxidase and SDH reactions, respectively. ... These findings supported a noninflammatory, congenital myopathy with pathological changes consistent with the centronuclear/myotubular myopathy group of neuromuscular diseases.`\n## Associated gene(s)\nDerived 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.\n- Gene: Entrez Gene ID 388250269 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n\n## Evidence (references)\nDerived 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.\n- 1991. Dyserythropoiesis, polymyopathy, and cardiac disease in three related English springer spaniels. J Vet Intern Med — PubMed:PMID1920252 | DOI:10.1111/j.1939-1676.1991.tb00942.x — OMIA Phene_Article / Article\n- 2022. EHBP1L1 Frameshift Deletion in English Springer Spaniel Dogs with Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) or Neonatal Losses. Genes (Basel) — PubMed:PMID36140701 | DOI:10.3390/genes13091533 — OMIA Phene_Article / Article\n- 2021. Congenital dyserythropoiesis and polymyopathy without cardiac disease in male Labrador retriever littermates. J Vet Intern Med — PubMed:PMID34227150 | DOI:10.1111/jvim.16214 — OMIA Phene_Article / Article\n- 2022. An EHPB1L1 nonsense mutation associated with congenital dyserythropoietic anemia and polymyopathy in Labrador Retriever littermates. Genes (Basel) — PubMed:PMID36011338 | DOI:10.3390/genes13081427 — OMIA Phene_Article / Article\n- 2024. European EHBP1L1 genotyping survey of dyserythropoietic anemia and myopathy Syndrome in English Springer Spaniels. Vet Sci — PubMed:PMID39728936 | DOI:10.3390/vetsci11120596 — OMIA Phene_Article / Article\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:619583 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n","sources":["companion-breed-health — English Springer Spaniel — Dyserythropoietic anemia and myopathy syndrome (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"English Springer Spaniel — Dyserythropoietic anemia and myopathy syndrome (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/1920252/","retrieved":"","ref":"PMID 1920252","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":1223,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}