{"topic_id":"companion_breed_health_lionhead_dwarf_omia5954_rabbit","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_lionhead_dwarf_omia5954_rabbit\ncategory: companion-breed-health\ntitle: \"Lionhead Dwarf — Neuronal ceroid lipofuscinosis, 7 (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 2026-08-23 from local OMIA database dump.\"\nsource_file: pdf-raw/breed-health/lionhead_dwarf_omia5954_5954.txt\ndate_parsed: 2026-08-23\ntokens_estimated: 327\nverification:\n  method: substring_match\n  claims: 6\n  passed: 6\n  date: 2026-08-23\nrecovered: false\npath: companion-breed-health/companion_breed_health_lionhead_dwarf_omia5954_rabbit/01_companion_breed_health_lionhead_dwarf_omia5954_rabbit.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: \"Lionhead Dwarf — Neuronal ceroid lipofuscinosis, 7 (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001962/9986/\"\n  retrieved: \"2026-08-23\"\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\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\n# Lionhead Dwarf — Neuronal ceroid lipofuscinosis, 7 (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: Lionhead Dwarf`\n- `Disorder: `\n- `Mode of inheritance: Probably autosomal recessive`\n- `Clin feat: Böttcher-Künneke et al. (2020) reported a 2 year old female lionhead dwarf rabbit which was presented due to behavioural changes, acute anxiety, hyperaesthesia, disorientation, ataxia, loss of vision, phantom scratching, epileptic seizures and a severe nasal dermatitis; all of which progressed within the following twelve months. ... Due to the progressive deterioration of its clinical signs and poor quality of life, the rabbit was euthanised.`\n- `Defect: yes`\n- `Pathology: Böttcher-Künneke et al. (2020) report pathological findings in the affected lionhead dwarf rabbit: At necropsy, a symmetrical internal hydrocephalus of the lateral ventricles was present. Histologically, neurons of the cerebrum, hippocampus, cerebellum, brain stem and spinal cord were enlarged due to the accumulation of an eosinophilic, partially granular intracytoplasmic material, which led to the diagnosis of a neuronal storage disease.nbsp;Christen et al. (2024) report additional pathological findings: Cytoplasmic pigment present in neurons was weakly positive with Sudan black B and autofluorescent. Immunohistology revealed astrogliosis, microgliosis and axonal degeneration.`\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 398298897 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Christen et al. (2024) \"the genome of the affected [lionhead dwarf] rabbit was sequenced and examined for private variants in NCL candidate genes. The analysis revealed a homozygous ~10.7 kb genomic duplication on chromosome 15 comprising parts of the&nbsp;<em>MFSD8</em> gene, NC_013683.1:g.103,727,963_103,738,667dup. The duplication harbors two internal protein coding exons and is predicted to in…\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- 2024. Intragenic MFSD8 duplication and histopathological findings in a rabbit with neuronal ceroid lipofuscinosis. Anim Genet — PubMed:PMID38712841 | DOI:10.1111/age.13441 — OMIA Phene_Article / Article\n- 2020. Neuronale Speicherkrankheit bei einem ausgewachsenen weiblichen Kaninchen. Kleintierpraxis — DOI:doi.org/10.2377/0023-2076-65-656 — 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:610951 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:611124 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n","sources":["companion-breed-health — Lionhead Dwarf — Neuronal ceroid lipofuscinosis, 7 (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Lionhead Dwarf — Neuronal ceroid lipofuscinosis, 7 (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/38712841/","retrieved":"","ref":"PMID 38712841","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":765,"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."}