ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.600 GeneticVariation disease BEFREE ACTA2 mutations are recently described genetically defined abnormalities of blood vessels in various organs of the body with specific abnormalities in cerebral vessels in the form of straightening of all cerebral arteries ("twig-like" pattern), stenosis/occlusions, proximal dilatation, and absent "moyamoya" type of collaterals. 29591721 2018
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.600 GeneticVariation disease BEFREE However, recent basic science and clinical data have demonstrated that the cerebral arteriopathy caused by mutant ACTA2 exhibits genetic loci, histopathology, neurological sequelae, and radiographic findings unique from moyamoya disease. 30300893 2018
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.600 GeneticVariation disease BEFREE Mutations in ACTA2 are the most common genetic cause of thoracic aortic aneurysm, and are also the cause of other disorders, including Moyamoya disease, coronary artery disease and stroke as well as Multisystemic Smooth Muscle Dysfunction Syndrome. 29202781 2017
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.600 GeneticVariation disease BEFREE Concurrent cardio- and cerebrovascular lesions have been reported in PHACE syndrome, ACTA2 mutation syndrome, and less frequently in the spontaneous occlusion of the circle of Willis (so-called moyamoya disease). 28814167 2017
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.600 GeneticVariation disease BEFREE The authors conducted a genetic study of really interesting new gene (RING) finger protein 213 ( RNF213); actin alpha 2 ( ACTA2); BRCA1/BRCA2-containing complex subunit 3 ( BRCC3); and guanylate cyclase 1, soluble, alpha 3 ( GUCY1A3) as well as a clinical phenotype analysis in Chinese MMD patients to determine whether genetic differences are responsible for the different clinical features that appear in MMD in different ethnicities. 27128593 2017
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.600 Biomarker disease 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: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.600 GeneticVariation disease BEFREE Recently, mutations in human RNF213 and ACTA2 genes were identified to be responsible for MMD. 25956231 2015
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.600 GeneticVariation disease BEFREE Mutations in the smooth muscle-specific isoform of α-actin (ACTA2) cause vascular smooth muscle dysfunction leading to aortic aneurysm and moyamoya syndrome. 22752479 2013
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.600 GeneticVariation disease BEFREE Cerebrovascular disease associated with ACTA2 mutations has been likened to moyamoya disease, but appears to have distinctive features. 22831780 2012
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.600 SusceptibilityMutation disease ORPHANET Further combined analysis of ACTA2 and other, possibly causative, genes in larger cohorts of MMD and other vascular diseases may identify possible common disease-causing mechanisms. 20970362 2011
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.600 Biomarker disease BEFREE Further combined analysis of ACTA2 and other, possibly causative, genes in larger cohorts of MMD and other vascular diseases may identify possible common disease-causing mechanisms. 20970362 2011
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.600 GeneticVariation disease BEFREE Investigations included neuroimaging, cardiologic and ophthalmologic evaluation, hormonal testing, hemoglobin electrophoresis, chromosomal karyotyping, muscle biopsy for morphology, immunohistochemistry and enzyme assays, mtDNA mutation screening, and haplotype analysis of 2 loci previously linked to moyamoya, on chromosomes 10 (ACTA2) and 17. 20644152 2010
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.600 SusceptibilityMutation disease ORPHANET Linkage analysis and association studies of individuals in 20 families with ACTA2 mutations indicate that mutation carriers can have a diversity of vascular diseases, including premature onset of coronary artery disease (CAD) and premature ischemic strokes (including Moyamoya disease [MMD]), as well as previously defined TAAD. 19409525 2009
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.600 GeneticVariation disease BEFREE Linkage analysis and association studies of individuals in 20 families with ACTA2 mutations indicate that mutation carriers can have a diversity of vascular diseases, including premature onset of coronary artery disease (CAD) and premature ischemic strokes (including Moyamoya disease [MMD]), as well as previously defined TAAD. 19409525 2009
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.600 Biomarker disease GENOMICS_ENGLAND