OMIA:000515-9544 : Cardiomyopathy, hypertrophic in Macaca mulatta

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

Categories: Cardiovascular system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 615396 (trait) , 115197 (trait) , 600958 (gene)

Links to MONDO diseases: No links.

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

Edit History

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