Nonetheless, other specific genes may be investigated in case of suspicion of a systemic disorder such as glycogen storage disease (PRKAG2), Danon disease (LAMP2), Fabry disease (GLA), transthyretin amyloid cardiomyopathy (TTR), and Pompe disease (GAA), for which an early diagnosis could modify therapeutic options. This evidence concerns the gene LAMP2 and diffuse lymphatic malformation.