Freiberger (Horse) — Hypertriglyceridemia-induced pancreatitis (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_freiberger_horse_hypertriglyceridemia_induced_pancreatitis_horse category: companion-breed-health title: "Freiberger (Horse) — Hypertriglyceridemia-induced pancreatitis (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/freiberger_horse_hypertriglyceridemia_induced_pancreatitis_6494.txt date_parsed: 2026-08-23 tokens_estimated: 476 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-23 recovered: false path: companion-breed-health/companion_breed_health_freiberger_horse_hypertriglyceridemia_induced_pancreatitis_horse/01_companion_breed_health_freiberger_horse_hypertriglyceridemia_induced_pancreatitis_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: "Freiberger (Horse) — Hypertriglyceridemia-induced pancreatitis (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002977/9796/" 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."---

Freiberger (Horse) — Hypertriglyceridemia-induced pancreatitis (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: Freiberger (Horse)
• Disorder: Hypertriglyceridemia-induced pancreatitis
• Mode of inheritance: Autosomal recessive
• Clin feat: The main diagnostic feature of affected animals are severely elevated plasma triglyceride levels above 10 mmol/l compared to the reference range of 0.6-1 mmol/l for foals and 0.17-0.59 mmol/l for adult horses (Drögemüller et al. 2025).nbsp;brDrögemüller et al. (2025) reported 11 affected Franches-Montagnes horses: Ten of the 11 affected horses died or were euthanized between 6 days and 3 months of age due to severe pancreatitis. The most common clinical signs in affected foals included apathy, reluctance to nurse, abdominal distension and diarrhea, with fever observed in some cases. Other common clinicopathological abnormalities in foals included hypoproteinemia, azotemia, hyperbilirubinemia, hyperlipasemia, and elevated serum amyloid A concentrations. ... One affected horse, a 13 year-old gelding, survived until adulthood and presented with a history of chronic weight loss, diarrhea, and intermittent fever, which had acutely worsened. ... The horse was humanely euthanized after several days of treatment due to its lengthy medical history and compromised quality of life.
• Defect: yes
• Pathology: Drögemüller et al. (2025): Pathological examinations in eight affected foals revealed severe, acute to chronic necrotizing pancreatitis and extensive fibronecrotizing peritonitis. The affected adult horse was diagnosed with severe, multifocal, chronic active cholangiohepatitis and acute necrotizing hepatitis, mild chronic pancreatic fibrosis, and mild multifocal chronic peritoneal fibrosis.
• Prevalence: Drögemüller et al. (2025) reported a 15% carrier frequency for omia.variant:1823 in 2111 unaffected Franches-Montagnes horses at the time of variant discovery.nbsp;nbsp;

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 398299034 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: The <em>LMF1</em> gene encodes lipase maturation factor 1, a transmembrane protein in the endoplasmic reticulum required for the correct posttranslational maturation of the enzymes lipoprotein lipase (LPL) and hepatic lipase (HPL). Loss-of-function of <em>LMF1</em> results in severe primary hypertriglyceridemia, which may trigger episodes of acute pancreatitis (Alves et al. 2024).<br>Drögemüller e…

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.

• 2025. LMF1 frameshift deletion in Franches-Montagnes horses with hypertriglyceridemia-induced pancreatitis. Sci Rep — PubMed:PMID40764662 | DOI:10.1038/s41598-025-13954-9 — OMIA Phene_Article / Article
• 2024. Understanding Hypertriglyceridemia: Integrating Genetic Insights. Genes (Basel) — PubMed:PMID38397180 | DOI:10.3390/genes15020190 — 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:246650 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:611761 (type: gene) — OMIA Group_OMIM (via OMIA_ID)