--- license: permission_granted topic_id: companion_species_health_neuronal_ceroid_lipofuscinosis_6_cat category: companion-species-health title: "Cat (Felis catus) — Neuronal ceroid lipofuscinosis, 6 (hereditary; OMIA-verified species predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-24 from local OMIA database dump." source_file: pdf-raw/species-health/cat_neuronal_ceroid_lipofuscinosis_6_4349.txt date_parsed: 2026-08-24 tokens_estimated: 252 verification: method: substring_match claims: 4 passed: 4 date: 2026-08-24 recovered: false path: companion-species-health/companion_species_health_neuronal_ceroid_lipofuscinosis_6_cat/01_companion_species_health_neuronal_ceroid_lipofuscinosis_6_cat.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Cat (Felis catus) — Neuronal ceroid lipofuscinosis, 6 (hereditary; OMIA-verified species predisposition)" url: "https://omia.org/OMIA001443/9685/" retrieved: "2026-08-24" ref: "OMIA species-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 (species-specific disorder entries)" needs_review: false
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."---
Cat (Felis catus) — Neuronal ceroid lipofuscinosis, 6 (hereditary; OMIA-verified species predisposition)
Source: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Species: Cat (Felis catus)Disorder: Neuronal ceroid lipofuscinosis, 6Clin feat: Katz et al. (2020): "A neutered male domestic medium-haired cat presented at a veterinary neurology clinic at 20 months of age due to progressive neurological signs that included visual impairment, focal myoclonus, and frequent severe generalized seizures that were refractory to treatment with phenobarbital. Magnetic resonance imaging revealed diffuse global brain atrophy."Pathology: Katz et al. (2020): "Microscopic examination of the cerebellum, cerebral cortex and brainstem revealed pronounced intracellular accumulations of autofluorescent storage material and inflammation in all 3 brain regions. Ultrastructural examination of the storage material indicated that it consisted almost completely of tightly-packed membrane-like material. The clinical signs and neuropathology strongly suggested that the cat suffered from a form of neuronal ceroid lipofuscinosis (NCL)."
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 389727796 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Katz et al. (2020): "Comparison of the [whole-genome] sequence data [of the affected cat] to whole exome sequence data from 39 unaffected cats and whole genome sequence data from an additional 195 unaffected cats revealed a homozygous variant in <em>CLN6</em> that was unique to the affected cat. This variant was predicted to cause a stop gain in the transcript due to a guanine to adenine transitio…
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.
- 2020. Neuronal ceroid lipofuscinosis in a domestic cat associated with a DNA sequence variant that creates a premature stop codon in CLN6. G3 (Bethesda) — PubMed:PMID32518081 | DOI:10.1534/g3.120.401407 — OMIA Phene_Article / Article
- 2020. Precision medicine in cats-The right biomedical model may not be the mouse!. PLoS Genet — PubMed:PMID33290388 | DOI:10.1371/journal.pgen.1009177 — OMIA Phene_Article / Article
- 2021. A domestic cat whole exome sequencing resource for trait discovery. Sci Rep — PubMed:PMID33785770 | DOI:10.1038/s41598-021-86200-7 — OMIA Phene_Article / Article
- 2024. Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals. Front Vet Sci — PubMed:PMID39703406 | DOI:10.3389/fvets.2024.1497817 — 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:601780 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:606725 (type: gene) — OMIA Group_OMIM (via OMIA_ID)