Domestic Shorthair — Mannosidosis, beta (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_domestic_shorthair_omia5648_cat category: companion-breed-health title: "Domestic Shorthair — Mannosidosis, beta (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/domestic_shorthair_omia5648_5648.txt date_parsed: 2026-08-02 tokens_estimated: 253 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_domestic_shorthair_omia5648_cat/01_companion_breed_health_domestic_shorthair_omia5648_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: "Domestic Shorthair — Mannosidosis, beta (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000626/9685/" 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

Domestic Shorthair — Mannosidosis, beta (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: Domestic Shorthair (Cat)
• Disorder:
• Clin feat: Katz et al. (2024): A 6-month-old spayed female cat of unknown ancestry ... exhibited apparent retinal degeneration based on a fundus appearance suggestive of chorioretinitis. Muscle tone was normal and symmetric. Upon neurological examination the cat was found to have dull mentation, a tetraparetic gait, and delayed conscious proprioception in all four limbs ... . Due to the progression of disease signs, the cat was humanely euthanized at approximately 10.5 months of age.
• Defect: yes
• Pathology: Katz et al. (2024): Postmortem examination of brain and retinal tissues revealed massive accumulations of vacuolar inclusions in most cells, similar to those reported in animals of other species with hereditary β -mannosidosis. ... In addition to the vacuolar inclusions, some cells in the brain of the affected cat contained inclusions that exhibited lipofuscin-like autofluorescence.

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 389717523 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Katz et al. (2024): "Whole genome sequence analysis [of a single affected cat] identified a homozygous missense variant c.2506G&gt;A in MANBA that predicts a p.Gly836Arg [omia.variant:1636] alteration in the encoded lysosomal enzyme β -mannosidase. This variant was not present in the whole genome or whole exome sequences of any of the 424 cats represented in the 99 Lives Cat Genome dataset. ... Th…

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.

• 2024. Beta-mannosidosis in a domestic cat associated with a missense variant in MANBA. Gene — PubMed:PMID37913889 | DOI:10.1016/j.gene.2023.147941 — 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:248510 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:609489 (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."