OMIA:000515-9544 : Cardiomyopathy, hypertrophic in Macaca mulatta (Rhesus monkey)
Categories: Cardiovascular system phene
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."
Cite this entry
|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.|
- Created by Frank Nicholas on 08 Aug 2020
- Changed by Frank Nicholas on 08 Aug 2020