{"topic_id":"companion_breed_health_japanese_domestic_omia2877_cat","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_japanese_domestic_omia2877_cat\ncategory: companion-breed-health\ntitle: \"Japanese Domestic — Gangliosidosis, GM2, type II (Sandhoff or variant 0) (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/japanese_domestic_omia2877_2877.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 94\nverification:\n  method: substring_match\n  claims: 5\n  passed: 5\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_japanese_domestic_omia2877_cat/01_companion_breed_health_japanese_domestic_omia2877_cat.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: \"Japanese Domestic — Gangliosidosis, GM2, type II (Sandhoff or variant 0) (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001462/9685/\"\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# Japanese Domestic — Gangliosidosis, GM2, type II (Sandhoff or variant 0) (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: Japanese Domestic (Cat)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Clin feat: Yu et al. (2022) reported skeletal radiographic abnormalities of Japanese domestic cats with GM2 gangliosidosis variant 0 caused by the HEXB:c.667Cgt;T pathogenic genetic variant [OMIA variant 309].`\n- `Defect: yes`\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 493928 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Muldoon et al. (1994) identified the causative variant in the Korat cat as \"the deletion of a cytosine residue at position +39 of the putative coding region [in the feline HEXB gene, which] results in a frame shift and a stop codon at base +191\" (omia.variant:497). <br>The causative variant…\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- 1994. Characterization of the molecular defect in a feline model  for type II G(M2)-gangliosidosis (Sandhoff disease). American Journal of Pathology — PubMed:PMID8178934 — OMIA Phene_Article / Article\n- 1995. White matter changes associated with feline G(M2)  gangliosidosis (Sandhoff disease): Correlation of MR findings  with pathologic and ultrastructural abnormalities. American Journal of Neuroradiology — PubMed:PMID7677013 — OMIA Phene_Article / Article\n- 1985. Characterization of a new model of GM2-gangliosidosis (Sandhoff's disease) in Korat cats. Journal of Clinical Investigation — PubMed:PMID4040927 | DOI:10.1172/JCI111997 — OMIA Phene_Article / Article\n- 2004. GM2-gangliosidosis variant 0 (Sandhoff-like disease) in a family of Japanese domestic cats. Vet Rec — PubMed:PMID15623087 — OMIA Phene_Article / Article\n- 2004. An inversion of 25 base pairs causes feline GM2 gangliosidosis variant. Exp Neurol — PubMed:PMID15081585 | DOI:10.1016/j.expneurol.2004.01.008 — OMIA Phene_Article / Article\n- 1977. GM2 ganglioside lysosomal storage disease in cats with beta-hexosaminidase deficiency. Science — PubMed:PMID404709 | DOI:10.1126/science.404709 — OMIA Phene_Article / Article\n- 2008. Retrospective diagnosis of feline GM2 gangliosidosis variant 0 (Sandhoff-like disease) in Japan: possible spread of the mutant allele in the Japanese domestic cat population. J Vet Med Sci — PubMed:PMID18772556 | DOI:10.1292/jvms.70.813 — OMIA Phene_Article / Article\n- 2007. Clinical and molecular analysis of GM2 gangliosidosis in two apparent littermate kittens of the Japanese domestic cat. J Feline Med Surg — PubMed:PMID17198760 | DOI:10.1016/j.jfms.2006.11.003 — OMIA Phene_Article / Article\n- 2007. Nonsense mutation of feline beta-hexosaminidase beta-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats. Res Vet Sci — PubMed:PMID16872651 | DOI:10.1016/j.rvsc.2006.05.007 — OMIA Phene_Article / Article\n- 2011. Rapid and simple polymerase chain reaction-based diagnostic assays for GM2 gangliosidosis variant 0 (Sandhoff-like disease) in Japanese domestic cats. J Vet Diagn Invest — PubMed:PMID21398459 | DOI:10.1177/104063871102300224 — OMIA Phene_Article / Article\n- 2009. Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase beta-subunit deficiency. Mol Genet Metab — PubMed:PMID19231264 | DOI:10.1016/j.ymgme.2009.01.003 — OMIA Phene_Article / Article\n- 2013. Therapeutic response in feline sandhoff disease despite immunity to intracranial gene therapy. Mol Ther — PubMed:PMID23689599 | DOI:10.1038/mt.2013.86 — OMIA Phene_Article / Article\n- (9 additional references in OMIA)\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:268800 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:606873 (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 — Japanese Domestic — Gangliosidosis, GM2, type II (Sandhoff or variant 0) (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Japanese Domestic — Gangliosidosis, GM2, type II (Sandhoff or variant 0) (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/8178934/","retrieved":"","ref":"PMID 8178934","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":1028,"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."}