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Genetic Disorder Research
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A Genetic Disease
By Ben and Jeremy
Types of Neurofibromatosis
There are three types of Neurofibromatosis, each of them resulting in bad symptoms (Type 1, Type 2, and Schwannomatosis).
Type 1 neurofibromatosis also known as Von Recklinghausen or NF1 is the most common type of Neurofibromatosis. It is Transmitted on chromosome number 17, and is caused mostly by mutation. In very rare cases it is caused by deletion. This type causes multiple areas of hyper pigmentation (i.e. birthmarks).
This has the same symptoms as NF1, and is caused the same way except for the fact that it is carried on chromosome 22, not 1.
Schwannomatosis is the rarest of the three forms of NF and reacts a little differently. Multiple benign tumors are formed in the peripheral nerve fiber cells. This different in another way from the other types also, it does not cause neurological disabilities or malignant tumors. Causes chronic pain, which is possible to occur in any parts of the body, depending on the peripheral nerves are affected
Incidence and Prevalence
Neurofibromatosis is the most common genetic neurological disease caused by a single gene. 100,000 people in the U.S. are affected by it. 1 in 4,000 people are affected by type 1 and it is normally treated during early childhood or infancy. 1 in 50,000 people are affected by type 2 neurofibromatosis.
Causes and Risk Factors
Two genetic processes can result in Neurofibromatosis. In half the cases occur when a defective NF gene is given to a child resulting in autosomal
dominant transition. in very rare cases Neurofibromatosis is caused by the NF1 or NF2 gene being deleted. The other half is caused by random genetic mutation. This has no known cause no hereditary link and no family history. Neurofibromatosis has been linked to other disorders such as epilepsy and scoliosis.
1. How is Neurofibromatosis caused?
2. What are the chances os getting Neurofibromatosis? Is it Genetic?
3. What does it do to your body?
4. Is Neurofibromatosis treatable?
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