--- license: permission_granted topic_id: companion_breed_health_english_springer_spaniel_omia693_dog category: companion-breed-health title: "English Springer Spaniel — Fucosidosis, alpha (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/english_springer_spaniel_omia693_693.txt date_parsed: 2026-08-02 tokens_estimated: 509 verification: method: substring_match claims: 10 passed: 10 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_english_springer_spaniel_omia693_dog/01_companion_breed_health_english_springer_spaniel_omia693_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: "English Springer Spaniel — Fucosidosis, alpha (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000396/9615/" 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
English Springer Spaniel — Fucosidosis, alpha (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: English Springer Spaniel (Dog)Disorder:Mode of inheritance: Autosomal recessiveSummary: Alpha fucosidosis is a lysosomal disease characterized by severe, progressive neurological degeneration. Affected dogs usually die or are euthanized by 3-4 years of age. There is a test available. Therapeutic methods are under investigation.Clin feat: Affected dogs appear clinically normal until around 4-6 months of age, when behavioral signs are first noticeable. Signs include progressive ataxia, proprioceptive dysfunction, change in temperament, dysphagia, dysphonia, loss of learned behavior, muscle wasting, and apparent blindness. Affected dogs usually die or are euthanized by 3-4 years of age (Skelly et al., 1996, Fletcher et al., 2011). Bone marrow transplantation therapy slowed progression and decreased severity of clinical signs, but only if performed at an early age (Taylor et al., 1992).Defect: yesPathology: Affected animals are deficient in both forms of alpha-L-fucosidase, and are unable to completely degrade complex oligosaccharides. Therefore, they accumulate fucose-containing oligosaccharides and glycopeptides in lysosomes, which appear as vacuoles in histologic section. Heterozygous animals have about 50% of normal fucosidase activity (Abraham et al., 1984, Skelly et al., 1996). Lysosomal storage disturbs normal extracellular traffic and activates microglia, which causes the inflammatory response. Vacuolation and inflammation of neurons in the frontal cortex occurs by 2 months of age, before clinical signs become apparent. Chronic neuroinflammation can cause secretion of tumor necrosis factor alpha, which is a pro-apoptotic cytokine. This causes neuronal loss (Fletcher et al., 2011).Prevalence: This disorder has been reported in ESSP in UK, Australia and USA.Control: Relatives of affected dogs should be tested. Breeding of affected or carrier dogs is not recommended.Gen test: There is a test available.
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 403929 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Skelly et al. (1996) identified a 14-bp deletion at the 3' end of exon 1 of the canine gene for alpha-L-fucosidase, in dogs affected with fucosidosis, causing a frameshift which results in 25 novel codons followed by two premature stop codons. Using the same strategy, Occhiodora and Anson (…
Causal variant(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.
- Variant: allele e; chromosome 6; nt change NM_001008690.1:c.727G>A; protein NP_001008690.1:p.(A243T); pathogenicity class 1; gene MC1-R — OMIA Variant / Variant_Phene
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.
- 1988. Fucosidosis in English Springer Spaniels: results of a trial screening programme. Journal of Small Animal Practice — OMIA Phene_Article / Article
- 1982. A suspected new canine storage disease. Acta Neuropathol — PubMed:PMID7072491 | DOI:10.1007/BF00690639 — OMIA Phene_Article / Article
- 1989. Characterization of Ecori Mutation in Fucosidosis Patients - A Stop Codon in the Open Reading Frame. Journal of Molecular Neuroscience — PubMed:PMID2642067 — OMIA Phene_Article / Article
- 1988. Fucosidosis. Comparative Pathology Bulletin — OMIA Phene_Article / Article
- 1989. The Effect of Bone Marrow-Derived Cells on Lysosomal Enzyme Activity in the Brain After Marrow Engraftment. Transplantation Proceedings — PubMed:PMID2530677 — OMIA Phene_Article / Article
- 1989. Reproductive abnormalities in canine fucosidosis. J Comp Pathol — PubMed:PMID2760271 | DOI:10.1016/0021-9975(89)90002-9 — OMIA Phene_Article / Article
- 1992. Inherited Lysosomal Storage Disease in an English Springer Spaniel. Journal of the American Veterinary Medical Association — PubMed:PMID1559875 — OMIA Phene_Article / Article
- 1992. Amelioration of Clinical Disease Following Bone Marrow Transplantation in Fucosidase-Deficient Dogs. American Journal of Medical Genetics — PubMed:PMID1609845 | DOI:10.1002/ajmg.1320420439 — OMIA Phene_Article / Article
- 1992. Age at Marrow Transplantation Is Critical for Successful Treatment of Canine Fucosidosis. Transplantation Proceedings — PubMed:PMID1413057 — OMIA Phene_Article / Article
- 1992. Correction of alpha-L-Fucosidase Deficiency in Fucosidosis Fibroblasts by Retroviral Vector-Mediated Gene Transfer. Human Gene Therapy — PubMed:PMID1525209 | DOI:10.1089/hum.1992.3.4-365 — OMIA Phene_Article / Article
- 1996. The molecular defect underlying canine fucosidosis. Journal of Medical Genetics — PubMed:PMID8730282 — OMIA Phene_Article / Article
- 1996. Isolation of the canine alpha-l-fucosidase cDNA and definition of the fucosidosis mutation in English Springer Spaniels. Mammalian Genome — PubMed:PMID8661697 — OMIA Phene_Article / Article
- (28 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:230000 (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."