OMIA:000515-9544 : Cardiomyopathy, hypertrophic in Macaca mulatta (Rhesus monkey)

In other species: woolly monkeys , dog , domestic cat , pig , Arabian camel , taurine cattle

Categories: Cardiovascular system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 615396 (trait) , 115197 (trait) , 600958 (gene)

Single-gene trait/disorder: no

Mode of inheritance: Multifactorial

Disease-related: 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."

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:000515-9544: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

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 70:358-67, 2020. Pubmed reference: 32753092. DOI: 10.30802/AALAS-CM-19-000108.

Edit History


  • Created by Frank Nicholas on 08 Aug 2020
  • Changed by Frank Nicholas on 08 Aug 2020