OMIA 000515-9544 : Cardiomyopathy, hypertrophic in Macaca mulatta
In other species: woolly monkeys , dog , domestic cat , pig , Arabian camel , cattle Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 615396 , 115197 Mendelian trait/disorder: no Mode of inheritance: Multifactorial Considered a defect: yes Key variant known: no Cross-species summary: Increase in volume of the muscle tissue of the heart, due to an increase in the size of muscle cells, primarily in the left ventricle and ventricular septum. Markers: Oldt et al. (2020) "uncovered a risk haplotype in the rhesus MYBPC3 gene, which is frequently disrupted in both human and feline HCM; this haplotype implicates an intronic variant strongly associated with disease in either homozygous or carrier form."
|2020||Oldt, R.F., Bussey, K.J., Settles, M.L., Fass, J.N., Roberts, J.A., Reader, J.R., Komandoor, S., Abrich, V.A., Kanthaswamy, S. :|
|MYBPC3 Haplotype Linked to Hypertrophic Cardiomyopathy in Rhesus Macaques (Macaca mulatta). Comp Med :, 2020. Pubmed reference: 32753092. DOI: 10.30802/AALAS-CM-19-000108.|
- Created by Frank Nicholas on 08 Aug 2020
- Changed by Frank Nicholas on 08 Aug 2020