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Japanese Domestic — Gangliosidosis, GM2, type II (Sandhoff or variant 0) (hereditary; OMIA-verified breed predisposition)

companion_breed_health_japanese_domestic_omia2877_cat

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--- license: permission_granted topic_id: companion_breed_health_japanese_domestic_omia2877_cat category: companion-breed-health title: "Japanese Domestic — Gangliosidosis, GM2, type II (Sandhoff or variant 0) (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/japanese_domestic_omia2877_2877.txt date_parsed: 2026-08-02 tokens_estimated: 94 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_japanese_domestic_omia2877_cat/01_companion_breed_health_japanese_domestic_omia2877_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: "Japanese Domestic — Gangliosidosis, GM2, type II (Sandhoff or variant 0) (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001462/9685/" 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

Japanese Domestic — Gangliosidosis, GM2, type II (Sandhoff or variant 0) (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: Japanese Domestic (Cat)
  • Disorder:
  • Mode of inheritance: Autosomal recessive
  • 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].
  • Defect: yes

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 493928 (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), 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…

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.

  • 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
  • 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
  • 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
  • 2004. GM2-gangliosidosis variant 0 (Sandhoff-like disease) in a family of Japanese domestic cats. Vet Rec — PubMed:PMID15623087 — OMIA Phene_Article / Article
  • 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
  • 1977. GM2 ganglioside lysosomal storage disease in cats with beta-hexosaminidase deficiency. Science — PubMed:PMID404709 | DOI:10.1126/science.404709 — OMIA Phene_Article / Article
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • (9 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:268800 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:606873 (type: gene) — 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."

Sources

Japanese Domestic — Gangliosidosis, GM2, type II (Sandhoff or variant 0) (hereditary; OMIA-verified breed predisposition)
companion-breed-healthPMID 8178934

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