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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.

Von recklinghausens disease dna

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.

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