ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
Disease: Congenital anomaly of cerebrovascular system ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158638
Disease: Congenital anomaly of cerebrovascular system
Congenital anomaly of cerebrovascular system 		0.020 GeneticVariation group BEFREE Characteristic hallmarks of this condition, caused only by these specific ACTA2 mutations, are congenital mydriasis (mid-dilated, non-reactive pupils), a large persistent ductus arteriosus (PDA), aortic aneurysms evolving during childhood, and cerebrovascular anomalies. 28328125 2017
CUI: C0158638
Disease: Congenital anomaly of cerebrovascular system
Congenital anomaly of cerebrovascular system 		0.020 GeneticVariation group BEFREE This case illustrates the spectrum of systemic malformations that are attributable to mutations in ACTA2 and expands the spectrum of cerebrovascular anomalies that are now known to accompany congenital mydriasis. 24998021 2014