Abstract Background and Aims: Porto-sinusoidal vascular disorder (PSVD) is a group of liver
vascular diseases featuring lesions encompassing the portal venules and sinusoids
unaccompanied by cirrhosis, irrespective of the presence/absence of portal hypertension. It
can occur secondary to coagulation disorders or insult by toxic agents. However, the cause
of

Porto-sinusoidal vascular disorder is a rare liver disease. The pathophysiological
mechanisms underlying the development of porto-sinusoidal vascular disorder are
unknown. Isolated cases of porto-sinusoidal vascular disorder associated with gene
mutations have been reported, but no overview is available. Therefore, we performed an
extensive literature search to provide a comprehensive overview of gene mutations
associated with porto-sinusoidal vascular disorder. We identified 34 genes and one …