{"topic_id":"companion_breed_health_huntaway_omia2817_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_huntaway_omia2817_dog\ncategory: companion-breed-health\ntitle: \"Huntaway — Trapped Neutrophil 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/huntaway_omia2817_2817.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 660\nverification:\n  method: substring_match\n  claims: 8\n  passed: 8\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_huntaway_omia2817_dog/01_companion_breed_health_huntaway_omia2817_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: \"Huntaway — Trapped Neutrophil Syndrome (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001428/9615/\"\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# Huntaway — Trapped Neutrophil 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: Huntaway (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Clin feat: Affected dogs present with fever, gastrointestinal signs, polyarthritis, joint effusion, and lameness and failure to thrive between 6 and 12 weeks of age and have a characteristic ‘ferret-like’ elongated face (Allen et al., 1996; Shearman amp; Wilton, 2011; Mizukami et al., 2012; Mason et al., 2014; Hegler et al., 2020). Proprioception and placing and hopping reflexes were markedly reduced, while skin reflex and deep pain sensations were normal (Mizukami et al., 2012). Decreased level of consciousness, astasia, and incontinence were also reported by Mizukami et al. (2012). Ill thrift and continued recurrent/chronic infections are hallmark features (Hegler et al., 2020). Dogs are commonly dying or being euthanised by one year of age (Wouda et al. 2010). [IT thanks DVM students Laura Sweeting and Tracy Yeung, who provided the basis of this contribution in April 2022]`\n- `Defect: yes`\n- `Pathology: Hegler et al. (2020) and Mizukami et al. (2013) discuss trapped neutrophil syndrome as a condition characterised by retention of neutrophils in the bone marrow of Border Collies. Whilst understanding of pathophysiological mechanisms is incomplete, neutrophils are seen to move inadequately from their haemopoietic site in bone marrow, to peripheral circulation (Mizukami et al., 2012). The two major features are reduced circulating neutrophil numbers (peripheral neutropoenia) and intramedullary myeloid hyperplasia (Mason et al., 2014). Eosinophilia, monocytosis, hypercholesterolaemia and nRBC in circulation and non-regenerative anaemia are reported (Mizukami et al., 2013). Radiographs showed capsular joint swelling and heterogeneous metaphyseal radiolucencies in multiple joints and cytology revealed non-degenerate neutrophilic inflammation in multiple joints (Hegler et al., 2020). [IT thanks DVM students Laura Sweeting and Tracy Yeung, who provided the basis of this contribution in April 2022]`\n- `Prevalence: Mizukami et al. (2016) reported the frequency of the 4bp deletion allele as 0.059 in 500 Border collies in Japan.`\n- `Gen test: Having developed a novel MAS-PCR assay targeting the VPS13B gene, Lerdkrai and Phungphosop (2023) demonstrated for the first time that carriers of [the likely causal 4bp deletion (OMIA variant 478) for] TNS exist in Border Collies in Thailand. The authors also reported that their assay is a reliable and cost-effective tool for diagnosing TNS based on VPS13B genotypes and is suitable for routine clinical practice.`\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 27951711 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Starting with a list of candidate genes based on comparative clinical signs in other species (especially humans), Shearman and Wilton (2011) used linkage analysis to eventually narrow the field down to the VPS13B gene. They \"sequenced each of the 63 exons of VPS13B in affected and control dogs and found that the causative mutation in Border collies is a 4 bp deletion in exon 19 of the largest tran…\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- 1996. Neutropenia with a probable hereditary basis in Border Collies. New Zealand Veterinary Journal — PubMed:PMID16031897 | DOI:10.1080/00480169.1996.35937 — OMIA Phene_Article / Article\n- 2006. Exclusion of CXCR4 as the cause of trapped neutrophil syndrome in Border Collies using five microsatellites on canine chromosome 19. Anim Genet — PubMed:PMID16441310 | DOI:10.1111/j.1365-2052.2005.01413.x — OMIA Phene_Article / Article\n- 2007. Elimination of neutrophil elastase and the genes for [corrected] adaptor protein complex 3 subunits [corrected] as the cause of trapped neutrophil syndrome in Border collies. Anim Genet — PubMed:PMID17302793 | DOI:10.1111/j.1365-2052.2007.01565.x — OMIA Phene_Article / Article\n- 2011. A canine model of Cohen syndrome: trapped neutrophil syndrome. BMC Genomics — PubMed:PMID21605373 | DOI:10.1186/1471-2164-12-258 — OMIA Phene_Article / Article\n- 2013. Real-time PCR genotyping assay for canine trapped neutrophil syndrome and high frequency of the mutant allele in Border collies. Vet J — PubMed:PMID22795605 | DOI:10.1016/j.tvjl.2012.06.014 — OMIA Phene_Article / Article\n- 2012. Trapped neutrophil syndrome in a Border Collie dog: clinical, clinico-pathologic, and molecular findings. J Vet Med Sci — PubMed:PMID22240985 | DOI:10.1292/jvms.11-0472 — OMIA Phene_Article / Article\n- 2016. Molecular prevalence of multiple genetic disorders in Border collies in Japan and recommendations for genetic counselling. Vet J — PubMed:PMID27387721 | DOI:10.1016/j.tvjl.2016.05.004 — OMIA Phene_Article / Article\n- 2021. Evaluation of genetic diversity and management of disease in Border Collie dogs. Sci Rep — PubMed:PMID33737533 | DOI:10.1038/s41598-021-85262-x — OMIA Phene_Article / Article\n- 2020. Trapped neutrophil syndrome in a Border Collie. J Am Anim Hosp Assoc — PubMed:PMID32182118 | DOI:10.5326/JAAHA-MS-6981 — OMIA Phene_Article / Article\n- 2014. Presentation and management of trapped neutrophil syndrome (TNS) in UK Border collies. J Small Anim Pract — PubMed:PMID24032537 | DOI:10.1111/jsap.12134 — OMIA Phene_Article / Article\n- 2010. Long-term management of trapped neutrophil syndrome in two Border Collies. Australian Veterinary Practitioner — OMIA Phene_Article / Article\n- 2022. Multiorgan neutrophilic inflammation in a Border Collie with \"trapped\" neutrophil syndrome. J Vet Intern Med — PubMed:PMID36239343 | DOI:10.1111/jvim.16567 — OMIA Phene_Article / Article\n- (4 additional references in OMIA)\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:216550 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:607817 (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 — Huntaway — Trapped Neutrophil Syndrome (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Huntaway — Trapped Neutrophil Syndrome (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/16031897/","retrieved":"","ref":"PMID 16031897","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":1420,"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."}