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."

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 :, 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