{"topic_id":"companion_breed_health_schapendoes_omia3097_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_schapendoes_omia3097_dog\ncategory: companion-breed-health\ntitle: \"Schapendoes — Neuronal ceroid lipofuscinosis, 6 (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"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.\"\nsource_file: pdf-raw/breed-health/schapendoes_omia3097_3097.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 331\nverification:\n  method: substring_match\n  claims: 10\n  passed: 10\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_schapendoes_omia3097_dog/01_companion_breed_health_schapendoes_omia3097_dog.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"Schapendoes — Neuronal ceroid lipofuscinosis, 6 (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001443/9615/\"\n  retrieved: \"2026-08-02\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\n\n# Schapendoes — Neuronal ceroid lipofuscinosis, 6 (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: Schapendoes (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Summary: The neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal storage diseases characterized by intraneuronal accumulation of fluorescent granules and early neuronal death. Dogs with NCL6 have early-onset, progressive disease that results in blindness and premature death. A genetic test is available.`\n- `Clin feat: Affected dogs present with visual deficits which progress to complete blindness, as well as progressive anxiety, cognitive and motor degeneration, circling, and incoordination (Katz et al., 2011).`\n- `Defect: yes`\n- `Pathology: Cerebellar hypoplasia and enlarged lateral ventricles are present. Large amounts of autofluorescent substance are present in the retina, cerebral cortex, and cerebellum, which is most prevalent in the cerebellar Purkinje and granular layers and the retinal ganglion cell layer (Katz et al., 2011).`\n- `Prevalence: The prevalence of this condition appears to be very low in Australian Shepherd dogs, as only two affected dogs have been definitively identified thus far (Katz et al., 2011).`\n- `Control: Relatives of affected dogs should be tested. Avoid breeding affected or carrier dogs.`\n- `Gen test: A genetic test is available.`\n## Associated gene(s)\nDerived 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.\n- Gene: Entrez Gene ID 26598540 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: The causative variant in Australin Shepherd dogs is a c.829T&gt;C transition in exon 7 of CLN6 leading to p.W277R on the protein level (Katz et al., 2011). Affected dogs have CLN6 deficiency. The function of CLN6 is unknown, but is likely an intrinsic membrane protein with 7 transmembrane domains (Katz et al., 2011).<br>Bellamy et al. (2024) \"describe a 19-month-old Schapendoes dog, where clinical…\n\n## Evidence (references)\nDerived 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.\n- 2008. Neuronal ceroid lipofuscinosis in 3 Australian shepherd littermates. J Vet Intern Med — PubMed:PMID18371036 | DOI:10.1111/j.1939-1676.2008.0079.x — OMIA Phene_Article / Article\n- 2011. A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis. J Biomed Biotechnol — PubMed:PMID21234413 | DOI:10.1155/2011/198042 — OMIA Phene_Article / Article\n- 2010. Pathophysiology of neuropathic lysosomal storage disorders. J Inherit Metab Dis — PubMed:PMID20429032 | DOI:10.1007/s10545-010-9075-9 — OMIA Phene_Article / Article\n- 2013. Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta — PubMed:PMID23338040 | DOI:10.1016/j.bbadis.2013.01.009 — OMIA Phene_Article / Article\n- 2017. Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis — PubMed:PMID28860089 | DOI:10.1016/j.nbd.2017.08.017 — OMIA Phene_Article / Article\n- 2020. Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci — PubMed:PMID32219101 | DOI:10.3389/fvets.2020.00080 — OMIA Phene_Article / Article\n- 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\n- 2024. Neuronal ceroid lipofuscinosis in a Schapendoes dog is caused by a missense variant in CLN6. Anim Genet — PubMed:PMID38866396 | DOI:10.1111/age.13457 — OMIA Phene_Article / Article\n- 2024. Neuronal ceroid lipofuscinosis in a mixed-breed dog with a splice site variant in CLN6. Genes (Basel) — PubMed:PMID38927597 | DOI:10.3390/genes15060661 — OMIA Phene_Article / Article\n- 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:601780 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:606725 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n","sources":["companion-breed-health — Schapendoes — Neuronal ceroid lipofuscinosis, 6 (hereditary; OMIA-verified breed predisposition) (retrieved 2026-08-22)"],"source":{"authority":"companion-breed-health","title":"Schapendoes — Neuronal ceroid lipofuscinosis, 6 (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/18371036/","retrieved":"2026-08-22","ref":"PMID 18371036","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":730,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}