{"topic_id":"companion_breed_health_nederlandse_kooikerhondje_hereditary_necrotizing_myelopathy_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_nederlandse_kooikerhondje_hereditary_necrotizing_myelopathy_dog\ncategory: companion-breed-health\ntitle: \"Nederlandse Kooikerhondje — Hereditary necrotizing myelopathy (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/nederlandse_kooikerhondje_hereditary_necrotizing_myelopathy_1315.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 161\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_nederlandse_kooikerhondje_hereditary_necrotizing_myelopathy_dog/01_companion_breed_health_nederlandse_kooikerhondje_hereditary_necrotizing_myelopathy_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: \"Nederlandse Kooikerhondje — Hereditary necrotizing myelopathy (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA000706/9615/\"\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# Nederlandse Kooikerhondje — Hereditary necrotizing myelopathy (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: Nederlandse Kooikerhondje (Dog)`\n- `Disorder: Hereditary necrotizing myelopathy`\n- `Mode of inheritance: Autosomal recessive`\n- `Clin feat: Mandigers et al. (2023): The clinical signs, paresis and ataxia, start in most [affected Kooiker] dogs around the age of 3–12 months in the hind limbs and progresses to tetraparalysis before the age of 2 years.`\n- `Defect: yes`\n- `Pathology: Mandigers et al. (2023): Post-mortem examination performed in these dogs revealed a symmetric bilateral necrotizing myelopathy with malacia in the ventral and dorsal white matter.`\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 388249199 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Mandigers et al. (2023) investigated gene exons in the 5 Mb region on chromosome 14 by next-generation sequencing of affected Kooiker dogs: \"A candidate pathogenic mutation was found in the iron–sulfur cluster assembly gene IBA57 and led to the amino acid substitution R147W. ... IBA57 is a nuclear-encoded mitochondrial protein [and defects in the protein are known to cause multiple mitochondrial d…\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- 1993. Hereditary necrotising myelopathy in Kooiker dogs. Res Vet Sci — PubMed:PMID8434139 | DOI:10.1016/0034-5288(93)90020-g — OMIA Phene_Article / Article\n- 2023. An inflammatory myopathy in the Dutch Kooiker dog. Animals (Basel) — PubMed:PMID37174546 | DOI:10.3390/ani13091508 — OMIA Phene_Article / Article\n- 1993. Hereditary Kooiker dog ataxia. Tijdschr. Voor Diergeneeskd. — OMIA Phene_Article / Article\n- 2023. A novel IBA57 variant is associated with mitochondrial iron-sulfur protein deficiency and necrotizing myelopathy in dogs. Front Genet — PubMed:PMID37588046 | DOI:10.3389/fgene.2023.1190222 — OMIA Phene_Article / Article\n- 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — 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:615316 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:615330 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:616451 (type: trait) — 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 — Nederlandse Kooikerhondje — Hereditary necrotizing myelopathy (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Nederlandse Kooikerhondje — Hereditary necrotizing myelopathy (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/8434139/","retrieved":"","ref":"PMID 8434139","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":751,"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."}