{"topic_id":"companion_breed_health_toyger_omia4562_cat","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_toyger_omia4562_cat\ncategory: companion-breed-health\ntitle: \"Toyger — Forebrain commissural malformation, ventriculomegaly and interhemispheric cysts, GDF7-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/toyger_omia4562_4562.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 152\nverification:\n  method: substring_match\n  claims: 7\n  passed: 7\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_toyger_omia4562_cat/01_companion_breed_health_toyger_omia4562_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: \"Toyger — Forebrain commissural malformation, ventriculomegaly and interhemispheric cysts, GDF7-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002366/9685/\"\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# Toyger — Forebrain commissural malformation, ventriculomegaly and interhemispheric cysts, GDF7-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: Toyger (Cat)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Summary: Previously listed in OMIA as OMIA:000478-9685 : Holoprosencephaly in Felis catus.`\n- `Clin feat: Ventriculomegaly with frequent concomitant supratentorial interhemispheric, communicating ventricular type-1b cysts and multiple midline and callosal malformations were detected in all cats displaying neurologic signs (Keating et al., 2016)`\n- `Defect: yes`\n- `Prevalence: Yu et al. (2020): This variant was not identified in 192 unaffected cats in the 99 Lives dataset.`\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 389754166 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Yu et al. (2020): \"Short-read whole genome sequencing was completed for a cat trio segregating with the syndrome. A homozygous 7 bp deletion in growth differentiation factor 7 (GDF7) (c.221_227delGCCGCGC [p.Arg74Profs, omia.variant:1221]) was identified in affected cats, by comparison to the 99 Lives Cat variant dataset, validated using Sanger sequencing and genotyped by fragment analyses. . . . T…\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- 2016. Characterization of an inherited neurologic syndrome in Toyger cats with forebrain commissural malformations, ventriculomegaly and interhemispheric cysts. J Vet Intern Med — PubMed:PMID26846816 | DOI:10.1111/jvim.13836 — OMIA Phene_Article / Article\n- 2020. A deletion in GDF7 is associated with a heritable forebrain commissural malformation concurrent with ventriculomegaly and interhemispheric cysts in cats. Genes (Basel) — PubMed:PMID32575532 | DOI:10.3390/genes11060672 — OMIA Phene_Article / Article\n- 2020. Precision medicine in cats-The right biomedical model may not be the mouse!. PLoS Genet — PubMed:PMID33290388 | DOI:10.1371/journal.pgen.1009177 — OMIA Phene_Article / Article\n- 2021. A domestic cat whole exome sequencing resource for trait discovery. Sci Rep — PubMed:PMID33785770 | DOI:10.1038/s41598-021-86200-7 — 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:604651 (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 — Toyger — Forebrain commissural malformation, ventriculomegaly and interhemispheric cysts, GDF7-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Toyger — Forebrain commissural malformation, ventriculomegaly and interhemispheric cysts, GDF7-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/26846816/","retrieved":"","ref":"PMID 26846816","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":739,"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."}