--- license: permission_granted topic_id: companion_breed_health_irish_wolfhound_omia3122_dog category: companion-breed-health title: "Irish Wolfhound — Hyperekplexia (Startle disease), SLC6A5-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/irish_wolfhound_omia3122_3122.txt date_parsed: 2026-08-02 tokens_estimated: 444 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_irish_wolfhound_omia3122_dog/01_companion_breed_health_irish_wolfhound_omia3122_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: "Irish Wolfhound — Hyperekplexia (Startle disease), SLC6A5-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001594/9615/" 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
Irish Wolfhound — Hyperekplexia (Startle disease), SLC6A5-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: Irish Wolfhound (Dog)Disorder:Mode of inheritance: Autosomal recessiveClin feat: Clinical signs begin at birth. Puppies display an involuntary ‘startle response’ characterised by generalised or intermittent extensor rigidity induced by unexpected handling or noise (Gill et al., 2011). Neonatal Irish wolfhounds have been reported to develop cyanosis and pneumonia when feeding due to extended periods of rigidity causing apnoea (Gill et al., 2011). Neonatal Spanish greyhounds were unable to properly walk or stand due to episodes of extensor rigidity. When owners attempted to assists the puppies with walking, their touch induced further extensor rigidity (Murphy et al. ̧ 2019). Neonatal death in hyperekplexic puppies is not uncommon due to the complications of feeding and breathing during hypertonic episodes/startle responses. IT thanks DVM student Emily Ketchum, who provided the basis of this contribution in May 2023.Defect: yesPathology: Post-mortem examination of Irish Wolfhound puppies with hyperekplexia have revealed no obvious muscular or neurological lesions resulting from the generic variants (Gill et al., 2011). IT thanks DVM student Emily Ketchum, who provided the basis of this contribution in May 2023.Prevalence: Murphy et al. (2019): The [Spanish Greyhound] pathogenic variant [omia.variant:1080] was absent from 34 unrelated greyhounds, 659 domestic dogs of pure and mixed breeds, and 54 wild canids, suggesting it occurred recently and may be private to the family.brWhile the Old English Sheepdog variant (omia.variant:1785) was found in one (unrelated) Old English Sheepdog, it was not found in 61 dogs of related breeds (Boeykens et al., 2025).
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 3543883 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Gill et al. (2011): "analysis of <em>SLC6A5</em> revealed a homozygous 4.2 kb microdeletion [omia.variant:638] encompassing exons 2 and 3 in both affected [Irish Wolfhound] animals." Murphy et al. (2019): "Whole genome resequencing of an affected [Spanish greyhound] dog revealed a homozygous two base pair deletion in the ninth exon of <em>SLC6A5</em> [omia.variant:1080], encoding the presynaptic g…
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.
- 2011. Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene. Neurobiol Dis — PubMed:PMID21420493 | DOI:10.1016/j.nbd.2011.03.010 — OMIA Phene_Article / Article
- 1984. Familial reflex myoclonus in Labrador Retrievers. Am J Vet Res — PubMed:PMID6524730 — OMIA Phene_Article / Article
- 2019. A glycine transporter SLC6A5 frameshift mutation causes startle disease in Spanish greyhounds. Hum Genet — PubMed:PMID30847549 | DOI:10.1007/s00439-019-01986-x — OMIA Phene_Article / Article
- 2021. International veterinary canine dyskinesia task force ECVN consensus statement: Terminology and classification. J Vet Intern Med — PubMed:PMID33769611 | DOI:10.1111/jvim.16108 — OMIA Phene_Article / Article
- 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article
- 2025. A frameshift variant in the SLC6A5 gene is associated with startle disease in a family of Old English Sheepdogs. Anim Genet — PubMed:PMID40012122 | DOI:10.1111/age.70003 — 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:604159 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:614618 (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."