ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
Disease: Arteriopathic disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.070 Biomarker group BEFREE Recognition of clinical and radiological phenotypic patterns has facilitated the discovery of multisystem disorders associated with arterial ischemic stroke including ACTA2 arteriopathy and adenosine deaminase 2 deficiency. 30079825 2019
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.070 Biomarker group BEFREE Our literature search revealed 15 articles (58 cases) of confirmed ACTA2 cerebral arteriopathy. 30300893 2018
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.070 GeneticVariation group BEFREE Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings. 27567161 2017
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.070 Biomarker group BEFREE While direct cerebrovascular bypass is technically feasible, patients with ACTA2 arteriopathy may be at increased risk for perioperative stroke compared with patients with moyamoya disease. 27176728 2016
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.070 GeneticVariation group BEFREE Cerebral arteriopathy associated with Arg179His ACTA2 mutation. 24353327 2014
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.070 GeneticVariation group BEFREE Cerebral arteriopathy associated with Arg179His ACTA2 mutation. 24293535 2013
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.070 GeneticVariation group BEFREE ACTA2 mutations cause a spectrum of extra-renal arteriopathy, leading to our second hypothesis that mutations are implicated in FMD. 21553326 2011