ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
Disease: Fetal megacystis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931117
Disease: Fetal megacystis
Fetal megacystis 		0.010 GeneticVariation disease BEFREE Furthermore, as ACTA2 R179H has been reported in patients with severe vasculomyopathy and premature death, we recommend that molecular testing for this mutation be considered in fetuses presenting with fetal megacystis with a normal karyotype, particularly if the bladder diameter is 15 mm or more, to allow expectant parents to make an informed decision. 22302747 2012