Bengal — Epileptic encephalopathy, CAD-related (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: Bengal (Cat)Disorder:Clin feat: Kaczmarska et al. (2025) report a 4-month-old Bengal kitten with intractable seizures and abnormal behavior which commenced at 13 weeks of age. As the kitten showed only partial response to treatment euthanasia was elected due to the impaired quality of life.Defect: yes
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 398298990 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Kaczmarska et al. (2025) conducted whole genome sequencing of an affected Bengal kitten and& 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…
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.
- 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
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:616457 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:114010 (type: gene) — 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."