--- license: permission_granted topic_id: companion_breed_health_siamese_omia3493_cat category: companion-breed-health title: "Siamese — Niemann-Pick disease, type A (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_omia3493_3493.txt date_parsed: 2026-08-02 tokens_estimated: 211 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_siamese_omia3493_cat/01_companion_breed_health_siamese_omia3493_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 A (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001795/9685/" 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 A (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: Takaichi et al. (2020): A 4-month-old female mixed-breed cat showed gait disturbance and eventual dysstasia with intention tremor and died at 14 months of age. Postmortem histological analysis revealed degeneration of neuronal cells, alveolar epithelial cells, hepatocytes, and renal tubular epithelial cells. Infiltration of macrophages was observed in the nervous system and visceral organs. The cytoplasm of neuronal cells was filled with Luxol fast blue (LFB)-negative and periodic acid-Schiff (PAS)-negative granules, and the cytoplasm of macrophages was LFB-positive and PAS-negative. Ultrastructurally, concentric deposits were observed in the brain and visceral organs.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 389727464 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: By sequencing the most likely comparative functional candidate gene, SMPD1, in an affected mixed-breed cat, Takaichi et al. (2020) identified "a nonsense mutation (c.1017G>A) in the SMPD1 gene" (omia.variant:1193) as the likely causal variant. They also observed "a decrease of SMPD1 mRNA expression, and reduced acid sphingomyelinase immunoreactivity".
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.
- 1980. Niemann-Pick disease: a genetic model in Siamese cats. Science — PubMed:PMID7189903 | DOI:10.1126/science.7189903 — OMIA Phene_Article / Article
- 1970. Lipid storage disease in a Siamese cat. J Am Vet Med Assoc — PubMed:PMID5461697 — OMIA Phene_Article / Article
- 1989. Polyneuropathy in feline Niemann-Pick disease. Brain — PubMed:PMID2557121 | DOI:10.1093/brain/112.6.1429 — OMIA Phene_Article / Article
- 1987. Sphingomyelin lipidosis in a cat. Vet Pathol — PubMed:PMID3672804 | DOI:10.1177/030098588702400504 — OMIA Phene_Article / Article
- 1984. Sphingomyelin lipidosis in a cat: Golgi studies. Acta Neuropathol — PubMed:PMID6441439 | DOI:10.1007/BF00690467 — OMIA Phene_Article / Article
- 1982. Niemann-Pick disease. Sphingomyelinosis of Siamese cats. Am J Pathol — PubMed:PMID6765735 — OMIA Phene_Article / Article
- 1970. [Electron microscopic studies on feline GI-gangliosidosis with similarities to Tay-Sachs disease]. Shinkei Kenkyu No Shimpo — PubMed:PMID5465880 — OMIA Phene_Article / Article
- 2020. Feline Niemann-Pick disease with a novel mutation of SMPD1 gene. Vet Pathol — PubMed:PMID32347185 | DOI:10.1177/0300985820921810 — OMIA Phene_Article / Article
- 1987. Lectin histochemistry and ultrastructure of feline kidneys from six different storage diseases. Virchows Arch B Cell Pathol Incl Mol Pathol — PubMed:PMID2892300 | DOI:10.1007/BF02899193 — 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:257200 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:607608 (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."