{"topic_id":"companion_breed_health_bengal_omia6335_cat","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_bengal_omia6335_cat\ncategory: companion-breed-health\ntitle: \"Bengal — Epileptic encephalopathy, CAD-related (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/bengal_omia6335_6335.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 100\nverification:\n  method: substring_match\n  claims: 4\n  passed: 4\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_bengal_omia6335_cat/01_companion_breed_health_bengal_omia6335_cat.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: \"Bengal — Epileptic encephalopathy, CAD-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002939/9685/\"\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# Bengal — Epileptic encephalopathy, CAD-related (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: Bengal (Cat)`\n- `Disorder: `\n- `Clin feat: Kaczmarska et al. (2025) reportnbsp; a 4-month-old Bengal kitten with intractable seizures and abnormal behavior which commenced at 13 weeks of age. As the kittennbsp;showed only partial response to treatment euthanasia was elected due to the impaired quality of life.nbsp;`\n- `Defect: yes`\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 398298990 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Kaczmarska et al. (2025) conducted whole genome sequencing of an affected Bengal kitten and&nbsp;report a likely causal <em>CAD</em> variant: \"The variant, XP_011279586.1:p.(Ser2015Asn) [omia.variant1787], was predicted to affect the oligomerization of the C-terminal aspartate transcarbamylase (ATCase) of CAD. Genotyping of 110 unaffected Bengal cats revealed four additional carriers of the mutant…\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- 2025. Epileptic encephalopathy in a young Bengal cat caused by CAD deficiency. Sci Rep — PubMed:PMID40251393 | DOI:10.1038/s41598-025-98414-0 — 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:616457 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:114010 (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 — Bengal — Epileptic encephalopathy, CAD-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Bengal — Epileptic encephalopathy, CAD-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/40251393/","retrieved":"","ref":"PMID 40251393","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":569,"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."}