English Cocker Spaniel — X-linked progressive retinal atrophy (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_english_cocker_spaniel_x_linked_progressive_retinal_atrophy_dog category: companion-breed-health title: "English Cocker Spaniel — X-linked progressive retinal atrophy (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/english_cocker_spaniel_x_linked_progressive_retinal_atrophy_6827.txt date_parsed: 2026-08-02 tokens_estimated: 112 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_english_cocker_spaniel_x_linked_progressive_retinal_atrophy_dog/01_companion_breed_health_english_cocker_spaniel_x_linked_progressive_retinal_atrophy_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: "English Cocker Spaniel — X-linked progressive retinal atrophy (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA003046/9615/" 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

English Cocker Spaniel — X-linked progressive retinal atrophy (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: English Cocker Spaniel (Dog)
• Disorder: X-linked progressive retinal atrophy
• Mode of inheritance: X-linked recessive
• Clin feat: Bionda et al. (2026) report related male English Cocker Spaniel dogs with a progressive vision deficit. Retinal pathology was recorded around 3-4 years of age with a possible earlier onset of visual impairment.nbsp;nbsp;
• 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 398299092 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Bionda et al. (2026) identified a 1-bp deletion in exon 36 of the <em>CACNA1F</em> gene (NC_049260.1:g.42,516,353del; XM_038587436.1:c.4,481del, XP_038443364.1:p.Phe1482LeufsTer8; omia.variant:1881) as likely causal variant for a novel form of &nbsp;X-linked progressive retinal atrophy in related English Cocker Spaniel dogs.

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.

• 2026. Deletion in CACNA1F gene causes X-linked progressive retinal atrophy in English Cocker Spaniel dogs. BMC Vet Res — PubMed:PMID41882631 | DOI:10.1186/s12917-026-05421-y — 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:300110 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:300476 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:300071 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:300600 (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."