Neurofibromatosis I

Reference work entry

Neurofibromatosis I (NF1) was described in 1882 by von Recklinghausen (von Recklinghausen 1882) who gave the disease its first full description, including recognition that the tumors arose from the fibrous tissue surrounding small nerves, leading to his designation of these tumors as “neurofibromas.” Thus, it is also called von Recklinghausen disease. It is one of the most common dominantly inherited genetic disorders affecting about 1 in 3,000 newborns and 1,000,000 people worldwide.

Synonyms and Related Disorders

Peripheral type neurofibromatosis; von Recklinghausen disease

Genetics/Basic Defects

  1. 1.
    1. a.

      Autosomal dominant

    2. b.
      High spontaneous mutation rate
      1. i.

        One of the highest in humans (1 × 10−4 per gamete per generation)

      2. ii.

        50% of the cases are due to new mutations.

      3. iii.

        Most patients are expected to have different mutations due to the high mutation rate at the NF1 locus.

    3. c.

      Full penetrance: essentially 100% in adults after careful examination by a slit-lamp...


Renal Artery Stenosis Malignant Peripheral Nerve Sheath Tumor Noonan Syndrome Spinal Cord Tumor Somatic Mosaicism 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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