--- license: permission_granted topic_id: companion_breed_health_siamese_omia3956_cat category: companion-breed-health title: "Siamese — Niemann-Pick disease, type C2 (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/siamese_omia3956_3956.txt date_parsed: 2026-08-02 tokens_estimated: 362 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_siamese_omia3956_cat/01_companion_breed_health_siamese_omia3956_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: "Siamese — Niemann-Pick disease, type C2 (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002065/9685/" 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
Siamese — Niemann-Pick disease, type C2 (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: Siamese (Cat)Disorder:Mode of inheritance: Autosomal recessiveClin feat: Zampieri et al. (2014) reported two kittens from the same litter with tremors at the age of 3 months, which progressed to dystonia and severe ataxia. At 6 months of age cat 2 was unable to stand without assistance and had bilaterally reduced menace response. It died at the age of 10 months. ... At 9 months cat 1 was unable to walk, developed seizures and it was euthanized at 21 months.Defect: yesPathology: Zampieri et al. (2014): histological analysis of the brain showed the presence of neurons with cytoplasmic swelling and vacuoles, gliosis of the substantia nigra and degeneration of the white matter. Spheroids with accumulation of ubiquitinated aggregates were prominent in the cerebellar cortex. Purkinje cells were markedly reduced in number and they showed prominent intracytoplasmic storage. Scattered perivascular aggregates of lymphocytes and microglial cells proliferation were present in the thalamus and midbrain. Proliferation of Bergmann glia was also observed. In the liver, hepatocytes were swollen because of accumulation of small vacuoles and foamy Kupffer cells were also detected. Foamy macrophages were observed within the pulmonary interstitium and alveoli as well. ... Filipin staining of cultured fibroblasts showed massive storage of unesterified cholesterol.
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 389723750 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Zampieri et al. (2014): "intronic mutation located 5 nt downstream of the canonical donor splice site of exon 1"; c.82+5G>A (omia.variant:420); "the mutation affects the splicing process causing the retention of 105 bp of intron 1 in the mature mRNA, which would lead to the in frame insertion of 35 amino acids between residues 28 and 29 of the NPC2 protein (p.G28_S29ins35)." <br>Rakib et al. (2…
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.
- 2014. Characterization of a spontaneous novel mutation in the NPC2 gene in a cat affected by Niemann Pick type C disease. PLoS One — PubMed:PMID25396745 | DOI:10.1371/journal.pone.0112503 — OMIA Phene_Article / Article
- 1989. Neurovisceral sphingomyelinosis in a Siamese cat. Acta Neuropathol — PubMed:PMID2514553 | DOI:10.1007/BF00294670 — OMIA Phene_Article / Article
- 1991. Lectin histochemistry of foamy cells in non-nervous tissues of feline sphingomyelinosis. J Comp Pathol — PubMed:PMID1723414 | DOI:10.1016/s0021-9975(08)80081-3 — OMIA Phene_Article / Article
- 1991. Lectin histochemistry of feline sphingomyelinosis. Histol Histopathol — PubMed:PMID1806052 — OMIA Phene_Article / Article
- 1998. A case of feline lysosomal storage disease. (In Japanese). J Jpn Vet Neurol — OMIA Phene_Article / Article
- 2023. Novel mutation in the feline NPC2 gene in cats with Niemann-Pick disease. Animals (Basel) — PubMed:PMID37458497 | DOI:10.3390/ani13111744 — 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:601015 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:607625 (type: trait) — 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."