Neurofibromatosis type 1

Neurofibromatosis 1 (NF1), Von Recklinghausen Disease

Overview

Type of disease: Rare conditions

Neurofibromatosis type 1 (NF1) is an inherited condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people. Mutations in the NF1 gene cause neurofibromatosis type 1. This condition is considered to have an autosomal dominant pattern of inheritance. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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