Golden Retriever — Hereditary spectrin 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: Golden Retriever (Dog)Disorder: Hereditary spectrin deficiencyMode of inheritance: Autosomal dominantSummary: Slappendel et al. (2005) were the first to describe hereditary spectrin deficiency in dogs: A radioimmunoassay revealed that erythrocyte spectrin concentration was 50-65% of normal in 5 adult Golden Retriever dogs, which had recovered from hemolytic anemia but whose OF [osmotic fragility] had persistently remained increased. OF also was increased and spectrin concentration was decreased (60-73%) in 10 dogs of an apparently healthy family of 19 Golden Retrievers related to a proband. Pedigree analysis revealed autosomal dominant inheritance. ... It is not clear whether spectrin deficiency in Golden Retrievers may result in hemolytic anemia, as in humans.Defect: yes
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.
- 2005. Hereditary spectrin deficiency in Golden Retriever dogs.. J Vet Intern Med — PubMed:PMID15822562 — OMIA Phene_Article / Article
- 2022. Exertional hemolysis and hematuria in a Labrador Retriever dog.. J Vet Diagn Invest — PubMed:PMID36184929 | DOI:10.1177/10406387221127268 — OMIA Phene_Article / Article
- 2023. Detection of spherocytosis in dogs with immune-mediated hemolytic anemia.. Vet Clin Pathol — PubMed:PMID37272477 | DOI:10.1111/vcp.13235 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. Links this animal disorder to its human OMIM entry for comparative/translational context.
- OMIM:109270 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:182900 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:612653 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.
- 2005. Hereditary spectrin deficiency in Golden Retriever dogs. J Vet Intern Med — PubMed:PMID15822562 — OMIA Phene_Article / Article
- 2022. Exertional hemolysis and hematuria in a Labrador Retriever dog. J Vet Diagn Invest — PubMed:PMID36184929 | DOI:10.1177/10406387221127268 — OMIA Phene_Article / Article
- 2023. Detection of spherocytosis in dogs with immune-mediated hemolytic anemia. Vet Clin Pathol — PubMed:PMID37272477 | DOI:10.1111/vcp.13235 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. Links this animal disorder to its human OMIM entry for comparative/translational context.
- OMIM:109270 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:182900 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:612653 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
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.
- 2005. Hereditary spectrin deficiency in Golden Retriever dogs. J Vet Intern Med — PubMed:PMID15822562 — OMIA Phene_Article / Article
- 2022. Exertional hemolysis and hematuria in a Labrador Retriever dog. J Vet Diagn Invest — PubMed:PMID36184929 | DOI:10.1177/10406387221127268 — OMIA Phene_Article / Article
- 2023. Detection of spherocytosis in dogs with immune-mediated hemolytic anemia. Vet Clin Pathol — PubMed:PMID37272477 | DOI:10.1111/vcp.13235 — 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:109270 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:182900 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:612653 (type: trait) — 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."
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.
- 2005. Hereditary spectrin deficiency in Golden Retriever dogs. J Vet Intern Med — PubMed:PMID15822562 — OMIA Phene_Article / Article
- 2022. Exertional hemolysis and hematuria in a Labrador Retriever dog. J Vet Diagn Invest — PubMed:PMID36184929 | DOI:10.1177/10406387221127268 — OMIA Phene_Article / Article
- 2023. Detection of spherocytosis in dogs with immune-mediated hemolytic anemia. Vet Clin Pathol — PubMed:PMID37272477 | DOI:10.1111/vcp.13235 — 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:109270 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:182900 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:612653 (type: trait) — 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."
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.
- 2005. Hereditary spectrin deficiency in Golden Retriever dogs. J Vet Intern Med — PubMed:PMID15822562 — OMIA Phene_Article / Article
- 2022. Exertional hemolysis and hematuria in a Labrador Retriever dog. J Vet Diagn Invest — PubMed:PMID36184929 | DOI:10.1177/10406387221127268 — OMIA Phene_Article / Article
- 2023. Detection of spherocytosis in dogs with immune-mediated hemolytic anemia. Vet Clin Pathol — PubMed:PMID37272477 | DOI:10.1111/vcp.13235 — 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:109270 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:182900 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:612653 (type: trait) — 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."