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 (trait)
,
115197 (trait)
,
600958 (gene)
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
- Created by Frank Nicholas on 08 Aug 2020
- Changed by Frank Nicholas on 08 Aug 2020