Neurofibromatosis type 1 (NF1; OMIM 162200), also known as von Recklinghausen disease, is a progressive autosomal dominant disorder in humans, mainly characterized by café-au-lait macules (CALMs), neurofibromas, skinfold freckling, and Lisch nodules. This evidence concerns the gene NF1 and neurofibromatosis type 1.