Neurofibromatosis type I

Uncommon card · No. 95705

Neurofibromatosis type I (NF-1), or von Recklinghausen syndrome, is a complex multi-system neurocutaneous disorder caused by a subset of genetic mutations at the neurofibromin 1 (NF1) locus. Other conditions associated with mutation of the NF1 gene include Watson syndrome. NF1 is a gene on chromosome 17 that is responsible for production of a protein (neurofibromin) which is needed for normal function in many human cell types. NF-1 causes tumors along the nervous system that can grow anywhere on the body. NF-1 is one of the most common genetic disorders and is not limited to any person's race or sex. NF-1 is an autosomal dominant disorder, which means that mutation or deletion of one copy (or allele) of the NF-1 gene is sufficient for the development of NF-1, although presentation varies widely and is often different even between relatives affected by NF-1. Globally, NF-1 affects approximately 1 in 3,200 individuals. Common symptoms of NF-1 include brownish-red spots in the colored part...

Read on Wikipedia · Image Mikael Häggström, M.D. Author info - Reusing images - Conflicts of interest: None Mikael Häggström, M.D. et. al (source images by various authors; see above), CC BY 4.0