--- license: permission_granted topic_id: companion_breed_health_italian_cane_corso_omia4768_dog category: companion-breed-health title: "Italian Cane Corso — Dental-skeletal-retinal anomaly, MIA3-related (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/italian_cane_corso_omia4768_4768.txt date_parsed: 2026-08-02 tokens_estimated: 122 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_italian_cane_corso_omia4768_dog/01_companion_breed_health_italian_cane_corso_omia4768_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: "Italian Cane Corso — Dental-skeletal-retinal anomaly, MIA3-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002465/9615/" 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
Italian Cane Corso — Dental-skeletal-retinal anomaly, MIA3-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: Italian Cane Corso (Dog)Disorder:Mode of inheritance: Autosomal recessiveClin feat: Christen et al. (2021): Affected dogs developed dental-skeletal-retinal anomaly (DSRA), clinically characterized by brittle, discolored, translucent teeth, disproportionate growth and progressive retinal degeneration resulting in vision loss.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 388246862 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Christen et al. (2021) "The comparison of whole genome sequence data of an affected dog to 789 control genomes revealed a private homozygous splice region variant in the critical interval. It affected the MIA3 gene encoding the MIA SH3 domain ER export factor 3, which has an essential role in the export of collagen and other secreted proteins. The identified variant, XM_005640835.3:c.3822+3_3822+4…
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.
- 2021. <i>MIA3</i> Splice Defect in Cane Corso Dogs with Dental-Skeletal-Retinal Anomaly (DSRA). Genes (Basel) — PubMed:PMID34680893 | DOI:10.3390/genes12101497 — OMIA Phene_Article / Article
- 2009. TANGO1 facilitates cargo loading at endoplasmic reticulum exit sites. Cell — PubMed:PMID19269366 | DOI:10.1016/j.cell.2008.12.025 — OMIA Phene_Article / Article
- 2015. The pathway of collagen secretion. Annu Rev Cell Dev Biol — PubMed:PMID26422332 | DOI:10.1146/annurev-cellbio-100913-013002 — OMIA Phene_Article / Article
- 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article
- 2023. Dental abnormalities in two dental-skeletal-retinal anomaly-positive Cane Corso dogs: A case series. J Vet Dent — PubMed:PMID38146186 | DOI:10.1177/08987564231215170 — OMIA Phene_Article / Article
- 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — 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:613455 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:619269 (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."