Triple A syndrome (OMIM #231550), a rare autosomal recessive disorder, is caused by homozygous or compound heterozygous mutations in the AAAS (achalasia-adrenal insufficiency-alacrima syndrome) gene encoding the nucleoporin ALADIN (alacrima-achalasia-adrenal insufficiency neurologic disorder) (Handschug et al., 2001; Tullio-Pelet et al., 2000). This evidence concerns the gene AAAS and Achalasia.