Cat (Felis catus) — Wilson disease (hereditary; OMIA-verified species predisposition)

Source: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

Species: Cat (Felis catus)
Disorder: Wilson disease
Clin feat: Asada et al. (2019): "A 9‐month‐old intact crossbred female cat was presented with jaundice, intermittent anorexia and lethargy, increased hepatic enzyme activities, and hyperammonemia. Abdominal ultrasound and computed tomographic examinations determined that the liver had a rounded and irregular margin, and histopathological examination identified excessive accumulation of copper hepatocytes in the liver. Concentrations of both blood and urine copper were higher than in healthy cats."
Prevalence: In a survey of 54 cats for whom "intraoperative liver tissue specimens" were available, Asada et al. (2020) reported 4 with "hepatic copper accumulation (HCA)", three of which had "single-nucleotide variations in ATP7B ".

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 389721739 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
OMIA molecular-genetics note: Noting the similarity of the clinical signs of a single "crossbred" cat (described in Clinical features section) to Wilson disease in humans, Asada et al. (2019) sequenced comparative functional genes in the affected cat and identified the variant c.3890C>G (p. T1297R, omia.variant:1136) of the <em>ATP7B</em> gene as being likely causal. The authors reported that "the patient and its litte…

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.

2019. Hepatic copper accumulation in a young cat with familial variations in the ATP7B gene. J Vet Intern Med — PubMed:PMID30561139 | DOI:10.1111/jvim.15399 — OMIA Phene_Article / Article
2020. Variations in ATP7B in cats with primary copper-associated hepatopathy. J Feline Med Surg — PubMed:PMID31687873 | DOI:10.1177/1098612X19884763 — OMIA Phene_Article / Article
2023. Diagnosis, management and genetic analysis of a cat with primary copper hepatopathy. JFMS Open Rep — PubMed:PMID37427085 | DOI:10.1177/20551169231177275 — 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:277900 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
OMIM:606882 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

Cat (Felis catus) — Wilson disease (hereditary; OMIA-verified species predisposition)