In other species: crab-eating macaque , Rhesus monkey , dog , pig , rabbit , golden hamster

Categories: Homeostasis / metabolism phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 143890 (trait) , 606945 (gene)

Single-gene trait/disorder: yes

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2024

Cross-species summary: Hypercholesterolemia; see also OMIA:001160: Hyperlipidaemia and OMIA:000080: Atherosclerosis

Species-specific name: atherosclerosis

Molecular basis: Hytönen et al. (2024) conducted whole genome sequencing and identified a homozygous XM_003981898.6:c.2406G>A (mRNA) / XM_003981898.6:c.2274G>A (CDS) variant (omia.variant:1817) in affected Korat cats.

Clinical features: Karkamo et al. (2021): "report the clinical and histopathological findings in two related cats of the Korat breed that presented with clinical signs of heart failure. In both cases, the clinical signs appeared in adulthood, were progressive and led to death." Affected cats had markedly elevated plasma total cholesterol levels.
Karkamo et al. (2025) report that cats that are heterozygote for a likely causal variand identified by (Hytönen et al., 2024) are asymptomatic without alterations in plasma cholesterol levels.

Pathology: Karkamo et al. (2021): "At necropsy [of affected Korat cats], severe atherosclerotic lesions were present in large and medium-sized arteries and were characterized by the formation of a fibrous cap and a lipid core, which contained a particularly large accumulation of cholesterol crystals, as indicated by the presence of many cholesterol clefts."

Breed: Korat (Cat) (VBO_0100143).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).

Associated gene: