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Neurofibromatosis 1 (Neurofibromatosis Type I) Summary

Description: An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).

Also Known As: Neurofibromatosis Type I; Watson Syndrome; von Recklinghausen Disease; von Recklinghausen's Disease; Recklinghausen Disease, Nerve Show All >>

Networked: 1078 relevant articles (9 outcomes, 61 trials/studies) for this Disease

Key Drugs and Agents for Neurofibromatosis 1

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Neurofibromin 1 (Neurofibromin) : 1 outcome 3 studies in 175 results : IBA
  2. Fluorodeoxyglucose F18 (Fludeoxyglucose F 18) : 1 outcome 3 studies in 9 results : FDA 2
  3. Cholecalciferol (Vitamin D3) : 1 outcome 2 studies in 5 results : FDA 5
  4. Retinaldehyde (Retinal) : 1 outcome 1 study in 29 results : IBA
  5. Lovastatin (Mevacor) : 1 outcome 1 study in 6 results : FDA 14 Generic
  6. Carbon Dioxide : 1 outcome 1 study in 1 result : IBA
  7. Bone Morphogenetic Proteins (Bone Morphogenetic Protein) : 1 outcome in 1 result : IBA
  8. Vitamins : 1 outcome in 1 result : IBA
  9. Succinate Dehydrogenase (Fumarate Reductase) : 4 studies in 34 results : IBA
  10. Genetic Markers (Genetic Marker) : 4 studies in 10 results : IBA
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Diseases Related to Neurofibromatosis 1

  1. Neurofibroma
  2. Hearing Loss (Hearing Impairment)
  3. Pseudarthrosis (Pseudoarthrosis)
  4. Ganglion Cysts (Ganglion)
  5. Plexiform Neurofibroma
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Key Therapies for Neurofibromatosis 1

Efficacy Chart >>
  1. Gas Lasers : 1 outcome 1 study in 3 results
  2. Cochlear Implantation : 1 outcome 1 study in 2 results
  3. Radiotherapy : 2 studies in 19 results
  4. Drug Therapy (Chemotherapy) : 1 study in 14 results
  5. Transplants (Transplant) : 8 results
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