Alternative Names & Classifications:
Neurofibromatosis (CLINICAL), Neurofibromatosis Type 1 (CLINICAL)
Description
This condition is caused by mutations in the NF1 gene, which produces neurofibromin, a protein that helps regulate cell growth. Without functional neurofibromin, cells grow without control, leading to benign tumors on nerves anywhere in the body. Symptoms are typically mild to moderate and appear in childhood, though complications can sometimes occur.