About Neurofibromatosis Type 1

About NF1

Genetic disorder caused by deficiency of neurofibromin protein, a key negative regulator of RAS

Genetic disorder caused by deficiency of neurofibromin protein, RAS regulator

Overview

Prevalence: 1:3000 worldwide (100K in US; 2M worldwide)
Cause: Loss of function mutations in NF1 gene; 3K+ different NF1 mutations, no dominant type of mutation, all are a loss-of-function
Hallmark features: Benign tumors in nerves (plexiform neurofibromas and cutaneous neurofibromas)
Multiple systems affected: PNS, CNS, skin and bone
2 FDA approved therapeutics: MEK inhibitors for plexiform neurofibromas

NF1 is one of most common rare disease – affecting 100K patients; more patients than cystic fibrosis, SMA, and Duchenne muscular dystrophy combined

NF1 is one of most common rare disease – affecting 100K patients; more patients than cystic fibrosis, SMA, and Duchenne muscular dystrophy combined