Causes, Signs and Symptoms

Causes of Von Recklinghausen’s Disease / Neurofibromatosis Type 1

Von Recklinghausen's disease, also called Neurofibromatosis (NF), is an inheritable genetic disorder caused by single gene mutation of NF1 or NF2 gene.

There are three forms of Von Recklinghausen’s Disease: Neurofibromatosis type-1 or NF1, neurofibromatosis type-2 (NF2) and Schwannomatosis, classified as a variant of NF2.

The type-1 neurofibromatosis is caused by the mutation of NF1 gene in Human Chromosome-17, while neurofibromatosis type-2 and Schwannomatosis is caused by the mutation of NF2 gene located at Chromosome-22.

Neurofibromatosis (NF) is an autosomal dominant genetic disease, wherein the condition is inherited from only one parent. The disease is manifested by the growth non-cancerous multiple soft nerve-tumors called neurofibromas.