--- license: permission_granted topic_id: companion_breed_health_german_hunting_terrier_omia4089_dog category: companion-breed-health title: "German Hunting Terrier — Exercise induced metabolic myopathy (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/german_hunting_terrier_omia4089_4089.txt date_parsed: 2026-08-02 tokens_estimated: 233 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_german_hunting_terrier_omia4089_dog/01_companion_breed_health_german_hunting_terrier_omia4089_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: "German Hunting Terrier — Exercise induced metabolic myopathy (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002140/9615/" 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
German Hunting Terrier — Exercise induced metabolic myopathy (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: German Hunting Terrier (Dog)Disorder:Mode of inheritance: Autosomal recessiveClin feat: Lepori et al. (2018): Clinical signs included exercise induced weakness, muscle pain, and suspected rhabdomyolysis. Affected dogs have elevated serum creatine kinase (CK) and alanine aminotransferase (ALT) activities. An acylcarnitine profile from blood revealed an elevated tetradecenoylcarnitine (C14:1) peak suggesting the diagnosis of acyl-CoA dehydrogenase very long chain deficiency (ACADVLD).Defect: yesPathology: Lepori et al. (2018): Muscle samples harvested from the affected German Hunting Terriers ... revealed a mild to moderate necrotizing myopathy with enrichment of interfibrillar lipid droplets and mitochondrial abnormalities. Changes were widely spread and more prominent in type 2 fibers. Nerve biopsies ... were unremarkable.
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 388254161 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Lepori et al. (2018): "Whole genome sequence analysis of one affected dog and 191 controls revealed a nonsense variant in the [comparative functional candidate] ACADVL gene encoding acyl-CoA dehydrogenase very long chain, c.1728C>A or p.(Tyr576*). The variant showed perfect association with the phenotype in the 10 affected and more than 500 control dogs of various breeds."
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.
- 2018. A nonsense variant in the ACADVL gene in German Hunting Terriers with exercise induced metabolic myopathy. G3 (Bethesda) — PubMed:PMID29491033 | DOI:10.1534/g3.118.200084 — OMIA Phene_Article / Article
- 2019. Verlaufsuntersuchungen bei Deutschen Jagdterriern mit belastungsabhängiger metabolischer Myopathie [Follow-up study in German Hunting Terrier dogs with exercise induced metabolic myopathy]. Tierarztl Prax Ausg K Kleintiere Heimtiere — PubMed:PMID31814088 | DOI:10.1055/a-1027-2533 — OMIA Phene_Article / Article
- 2023. Identification of Genetic Risk Factors for Monogenic and Complex Canine Diseases. Annu Rev Anim Biosci — PubMed:PMID36322969 | DOI:10.1146/annurev-animal-050622-055534 — 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
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:201475 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:609575 (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."