Nederlandse Kooikerhondje — Hereditary necrotizing myelopathy (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_nederlandse_kooikerhondje_hereditary_necrotizing_myelopathy_dog category: companion-breed-health title: "Nederlandse Kooikerhondje — Hereditary necrotizing myelopathy (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/nederlandse_kooikerhondje_hereditary_necrotizing_myelopathy_1315.txt date_parsed: 2026-08-02 tokens_estimated: 161 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_nederlandse_kooikerhondje_hereditary_necrotizing_myelopathy_dog/01_companion_breed_health_nederlandse_kooikerhondje_hereditary_necrotizing_myelopathy_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: "Nederlandse Kooikerhondje — Hereditary necrotizing myelopathy (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000706/9615/" 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

Nederlandse Kooikerhondje — Hereditary necrotizing myelopathy (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: Nederlandse Kooikerhondje (Dog)
• Disorder: Hereditary necrotizing myelopathy
• Mode of inheritance: Autosomal recessive
• 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.
• Defect: yes
• 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.

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: Entrez Gene ID 388249199 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• 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…

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.

• 1993. Hereditary necrotising myelopathy in Kooiker dogs. Res Vet Sci — PubMed:PMID8434139 | DOI:10.1016/0034-5288(93)90020-g — OMIA Phene_Article / Article
• 2023. An inflammatory myopathy in the Dutch Kooiker dog. Animals (Basel) — PubMed:PMID37174546 | DOI:10.3390/ani13091508 — OMIA Phene_Article / Article
• 1993. Hereditary Kooiker dog ataxia. Tijdschr. Voor Diergeneeskd. — OMIA Phene_Article / Article
• 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
• 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — 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:615316 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:615330 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:616451 (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."