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Miniature Horse (Horse) — Dwarfism, ACAN-related (hereditary; OMIA-verified breed predisposition)

companion_breed_health_miniature_horse_horse_omia3715_horse

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--- license: permission_granted topic_id: companion_breed_health_miniature_horse_horse_omia3715_horse category: companion-breed-health title: "Miniature Horse (Horse) — Dwarfism, ACAN-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 2026-08-23 from local OMIA database dump." source_file: pdf-raw/breed-health/miniature_horse_horse_omia3715_3715.txt date_parsed: 2026-08-23 tokens_estimated: 359 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-23 recovered: false path: companion-breed-health/companion_breed_health_miniature_horse_horse_omia3715_horse/01_companion_breed_health_miniature_horse_horse_omia3715_horse.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Miniature Horse (Horse) — Dwarfism, ACAN-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001271/9796/" retrieved: "2026-08-23" 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

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."---

Miniature Horse (Horse) — Dwarfism, ACAN-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: Miniature Horse (Horse)
  • Disorder:
  • Mode of inheritance: Autosomal recessive
  • Clin feat: Chondrodysplastic dwarfism in horses was identified based on severely shortened stature relative to horses of that age plus any of the following characteristics: shortened limbs relative to overall body size, bowed forelegs, shortened neck, disproportionately large cranium, compressed faces with large bulging eye sockets with prominent eyes, low nasal bridge, severe underbite, retruded muzzle, cleft palate and protruding tongue, a large abdominal hernia or embryonic loss with a dwarf phenotype of the fetus. (Eberth et al., 2018). Andrade et al. (2020; PMID 31906815) reported the first documented cases of homozygosity for the D4 variant: 2 Miniature horses with the genotype D4/D4 in the emACAN/em gene. Clinically, the 2 dwarfs had a domed head that was large compared to the rest of the body, mandibular prognathism, and short and bowed limbs, mainly in the proximal region of the metatarsal bones. Radiographic examination revealed contour irregularities of the subchondral bone in the long bones and confirmed mandibular prognathism; histopathology revealed irregular chondrocyte organization.
  • Defect: yes
  • Prevalence: Eberth et al. (2018) reported the frequencies in Minatures of each variant were 0.03 for D1, 0.09 for D2, 0.02 for D3* and 0.03 for D4.

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 388932040 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
  • OMIA molecular-genetics note: Noting that the relevant region of chromosome ECA1 contains the ACAN gene that has been implicated in similar types of dwarfism in cattle (see OMIA 001271-9913) and humans (see OMIM entry above), Eberth (2013, Master's thesis) sequenced this comparative positional candidate gene in affected and normal Miniature horses, revealing four variants strongly associated with dwarfism: c.245del, p.K82fx in…

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.

  • 2014. Five things equine veterinarians should know about genomics. Equine Vet J — PubMed:PMID24909654 | DOI:10.1111/evj.12271 — OMIA Phene_Article / Article
  • 2013. Chondrodysplasia-Like Dwarfism in the Miniature Horse. Master's Thesis, University of Kentucky — OMIA Phene_Article / Article
  • 2017. Whole-genome sequencing reveals a potential causal mutation for dwarfism in the Miniature Shetland pony. Mamm Genome — PubMed:PMID27942904 | DOI:10.1007/s00335-016-9673-4 — OMIA Phene_Article / Article
  • 2009. Investigation of dwarfism Among Miniature Horses using the Illumina Horse SNP50 Bead Chip. Journal of Equine Veterinary Science — OMIA Phene_Article / Article
  • 2018. Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses. Anim Genet — PubMed:PMID30058072 | DOI:10.1111/age.12682 — OMIA Phene_Article / Article
  • 2020. Description of the D4/D4 genotype in Miniature horses with dwarfism. J Vet Diagn Invest — PubMed:PMID31906815 | DOI:10.1177/1040638719898164 — OMIA Phene_Article / Article
  • 2020. Evaluation of a new variant in the aggrecan gene potentially associated with chondrodysplastic dwarfism in Miniature horses. Sci Rep — PubMed:PMID32943661 | DOI:10.1038/s41598-020-72192-3 — OMIA Phene_Article / Article
  • 2020. Heterozygotes for ACAN dwarfism alleles in horses have reduced stature. Anim Genet — PubMed:PMID32065671 | DOI:10.1111/age.12921 — OMIA Phene_Article / Article
  • 2024. Predicted genetic burden and frequency of phenotype-associated variants in the horse. Sci Rep — PubMed:PMID38600096 | DOI:10.1038/s41598-024-57872-8 — OMIA Phene_Article / Article
  • 2024. Genetic factors underlying mandibular prognathism: insights from recent human and animal studies. Mamm Genome — PubMed:PMID39607497 | DOI:10.1007/s00335-024-10084-x — OMIA Phene_Article / Article
  • 2023. Molecular Genetic Studies of Horses, Especially With Reference to Aggrecan and Dwarfism. PhD Thesis, University of Kentucky — DOI:10.13023/etd.2023.276 — 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:612813 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:165800 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:608361 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:155760 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

Sources

Miniature Horse (Horse) — Dwarfism, ACAN-related (hereditary; OMIA-verified breed predisposition)
companion-breed-healthPMID 31906815

Machine access

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