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Wirehaired Pointing Griffon β€” Juvenile cataract (FYCO1-frameshift deletion) (hereditary; OMIA-verified breed predisposition)

companion_breed_health_wirehaired_pointing_griffon_juvenile_cataract_fyco1_frameshift_deletion_dog

Other Compilations derived_from_dataset companion-breed-health

--- license: permission_granted topic_id: companion_breed_health_wirehaired_pointing_griffon_juvenile_cataract_fyco1_frameshift_deletion_dog category: companion-breed-health title: "Wirehaired Pointing Griffon β€” Juvenile cataract (FYCO1-frameshift deletion) (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/wirehaired_pointing_griffon_juvenile_cataract_fyco1_frameshift_deletion_4938.txt date_parsed: 2026-08-02 tokens_estimated: 213 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_wirehaired_pointing_griffon_juvenile_cataract_fyco1_frameshift_deletion_dog/01_companion_breed_health_wirehaired_pointing_griffon_juvenile_cataract_fyco1_frameshift_deletion_dog.md source_document: "OMIA β€” Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA β€” Online Mendelian Inheritance in Animals (University of Sydney)" title: "Wirehaired Pointing Griffon β€” Juvenile cataract (FYCO1-frameshift deletion) (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002536/9615/" 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

Wirehaired Pointing Griffon β€” Juvenile cataract (FYCO1-frameshift deletion) (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: Wirehaired Pointing Griffon (Dog)
  • Disorder: Juvenile cataract (FYCO1-frameshift deletion)
  • Mode of inheritance: Autosomal recessive
  • Summary: Other forms of inherited cataract have been been described in other breeds, for examples see 'a href=../../../../../../OMIA001758/9615/OMIA:001758-9615/a - Cataract, early onset, HSF4-related' and 'a href=../../../../../../OMIA000168/9615/OMIA:000168-9615 /a-Cataract, generic'.
  • Clin feat: Rudd Garces et al. (2022): A breeder noticed signs of body imbalance in the affected puppies and difficulties following the other littermates at 8 weeks of age. Private clinical and ophthalmological examinations revealed the presence of opaque spots in the eyes and blindness, corresponding to signs of juvenile cataract.
  • 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 388245073 (no symbol in OMIA GeneSynonym) β€” OMIA Phene_Gene
  • OMIA molecular-genetics note: Rudd Garces et al. (2022): "Whole-genome sequencing of an affected dog revealed 12 protein-changing variants that were not present in 566 control genomes, of which two were located in functional candidate genes, FYCO1 and CRYGB. Targeted genotyping of both variants in the investigated family excluded CRYGB and revealed perfect co-segregation of the FYCO1 variant with the juvenile cataract phenotyp…

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.

  • 2022. FYCO1 frameshift deletion in Wirehaired Pointing Griffon dogs with juvenile cataract. Genes (Basel) β€” PubMed:PMID35205377 | DOI:10.3390/genes13020334 β€” OMIA Phene_Article / Article
  • 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf β€” 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:610019 (type: trait) β€” OMIA Group_OMIM (via OMIA_ID)
  • OMIM:607182 (type: gene) β€” 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."