Neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, is an autosomal dominant disease caused by mutations of NF1 gene on chromosome 17. The NF1 gene encodes a RAS GTPase-activating protein called neurofibromin. It is one of the most frequent human genetic diseases, with a prevalence of one case in 3000 births and there is no sex or racial predilection. NF1 is characterized by multiple cafe-au-lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more serious manifestations include plexiform neurofibromas, optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2D Phakomatoses or hamartoneoplastic syndromes
H01437 Neurofibromatosis type 1
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06526 MAPK signaling
H01437 Neurofibromatosis type 1
