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GENATLAS PHENOTYPE
last update : 04-11-2015
Symbol MSMD1
Location 10q23.31
Name multisystemic smooth muscle dysfunction syndrome 1
Corresponding gene ACTA2
Main clinical features
  • congenital mydriasis or fixed dilated pupils, as well as patent ductus arteriosus requiring repair in infancy, and subsequently fusiform ascending aortic aneurysms, with cerebral vascular abnormalities including fusiform dilatation of the intimal carotid artery from the cavernous to the clinoidal segments
  • also pulmonary arterial hypertensive changes with smooth muscle cell hyperplasia and neointimal fibrocellular proliferative lesions
  • Genetic determination autosomal dominant
    Function/system disorder eye
    neuromuscular
    cardiovascular
    Type disease
    Remark(s)