Irish Setter — globoid cell leukodystrophy (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_irish_setter_globoid_cell_leukodystrophy_dog category: companion-breed-health title: "Irish Setter — globoid cell leukodystrophy (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_setter_globoid_cell_leukodystrophy_1140.txt date_parsed: 2026-08-02 tokens_estimated: 363 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_irish_setter_globoid_cell_leukodystrophy_dog/01_companion_breed_health_irish_setter_globoid_cell_leukodystrophy_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 Setter — globoid cell leukodystrophy (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000578/9615/" 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 Setter — globoid cell leukodystrophy (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 Setter (Dog)
• Disorder: globoid cell leukodystrophy
• Mode of inheritance: Autosomal recessive
• Clin feat: Clinical signs are usually apparent in affected dogs by 4-6 weeks of age (Corado et al., 2020). Affected dogs initially present with tremors and pelvic limb weakness which then progresses to pelvic limb ataxia as well as thoracic limb dysmetria, followed by tetraparesis and then eventually hind limb paralysis (Corado et al., 2020). Other clinical signs may include a wide-based stance, hypermetria, generalised incoordination and muscle atrophy (Bradbury et al., 2018). [IT thanks DVM student Sharna Allison, who provided the basis of this contribution in April 2022]
• Defect: yes
• Pathology: This disease results in extensive characteristic white matter demyelination, globoid cell infiltration and low leukocyte galactosylceramidase activity (Fletcher et al., 2010). Demyelination usually begins in the spinal cord, peripheral nerves and hindbrain before progressing to the cerebellum (Fletcher et al., 2010). Histopathological changes in GLD-affected dogs include reactive astrocytosis and microglial activation (Fletcher et al., 2010). Psychosine, a GALC substrate, is believed to be responsible for cell death in GLD (Corado et al., 2020). [IT thanks DVM student Sharna Allison, who provided the basis of this contribution in April 2022]

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 403916 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene

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.

• 1973. Globoid cell leukodystrophy in a Miniature Poodle. J Am Vet Med Assoc — PubMed:PMID4721757 — OMIA Phene_Article / Article
• 1975. Globoid cell leukodystrophy in a Beagle. J Am Vet Med Assoc — PubMed:PMID1158775 — OMIA Phene_Article / Article
• 1979. Hereditary leukodystrophy in Dalmatian dogs in Norway. Norsk Veterinaertidsskrift — OMIA Phene_Article / Article
• 1976. The morphologic similarities of human and canine globoid leukodystrophy. American Journal of Pathology — PubMed:PMID970445 — OMIA Phene_Article / Article
• 1971. Ultrastructural features of globoid cell leukodystrophy in the dog. American Journal of Veterinary Research — PubMed:PMID5099954 — OMIA Phene_Article / Article
• 1974. Globoid cell leukodystrophy in the Bluetick Hound dog. I. Clinical manifestations. Canadian Veterinary Journal — OMIA Phene_Article / Article
• 1971. Krabbe's globoid cell leukodystrophy: deficiency of galactocerebrosidase in serum, leukocytes, and fibroblasts. Science — PubMed:PMID5538703 — OMIA Phene_Article / Article
• 1970. Ultrastructural study of experimental globoid cells. Laboratory Investigation — PubMed:PMID5484847 — OMIA Phene_Article / Article
• 1971. Globoid cell leukodystrophy in two dogs. J Small Anim Pract — PubMed:PMID5167788 | DOI:10.1111/j.1748-5827.1971.tb06187.x — OMIA Phene_Article / Article
• 1994. Globoid cell leucodystrophy in seven West Highland White Terrier pups. Annales de Medecine Veterinaire — OMIA Phene_Article / Article
• 1996. Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn Terriers. Genomics — PubMed:PMID8661004 | DOI:10.1006/geno.1996.0220 — OMIA Phene_Article / Article
• 1998. MRI and electrophysiological abnormalities in a case of canine globoid cell leucodystrophy. Journal of Small Animal Practice — PubMed:PMID9741878 — OMIA Phene_Article / Article
• (27 additional references in OMIA)

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:245200 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:606890 (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."