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."
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
- Changed by Frank Nicholas on 08 Aug 2020
- Created by Frank Nicholas on 08 Aug 2020