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Donskoy — Pink-eye (hereditary; OMIA-verified breed predisposition)

companion_breed_health_donskoy_pink_eye_cat

--- license: permission_granted topic_id: companion_breed_health_donskoy_pink_eye_cat category: companion-breed-health title: "Donskoy — Pink-eye (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/donskoy_pink_eye_4914.txt date_parsed: 2026-08-02 tokens_estimated: 89 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_donskoy_pink_eye_cat/01_companion_breed_health_donskoy_pink_eye_cat.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Donskoy — Pink-eye (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002116/9685/" 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

Donskoy — Pink-eye (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: Donskoy (Cat)
  • Disorder: Pink-eye
  • Mode of inheritance: Autosomal recessive
  • Clin feat: Mériot et al. (2020): In the feline Donskoy breed, a phenotype that breeders call pink-eye, with associated light-brown skin, yellow irises and red-eye effect, has been described.
  • 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 389727644 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
  • OMIA molecular-genetics note: Mériot et al. (2020): "A homozygous c.2571-1G&gt;A acceptor splice-site variant [omia.variant:1423] located in intron 16 of HPS5 was identified in pink-eye cats. Segregation of the variant was 100% consistent with the inheritance pattern. Genotyping of 170 cats from 19 breeds failed to identify a single carrier in non-Donskoy cats. The c.2571-1G&gt;A variant leads to HPS5 exon-16 splicing that is …

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.

  • 2020. Donskoy cats as a new model of oculocutaneous albinism with the identification of a splice-site variant in Hermansky-Pudlak Syndrome 5 gene. Pigment Cell Melanoma Res — PubMed:PMID32558164 | DOI:10.1111/pcmr.12906 — OMIA Phene_Article / Article
  • 2024. Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals. Front Vet Sci — PubMed:PMID39703406 | DOI:10.3389/fvets.2024.1497817 — 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:614074 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:607521 (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."

Sources