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Neurofibromatosis 1 (Neurofibromatosis Type I)

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; Recklinghausen Disease, Nerve; von Recklinghausen's Disease; Peripheral Neurofibromatosis; Cafe-au-Lait Spots with Pulmonic Stenosis; Molluscum Fibrosum; NF1 (Neurofibromatosis 1); Neurofibromatosis I; Neurofibromatosis Type 1; Neurofibromatosis, Peripheral Type; Neurofibromatosis, Peripheral, NF 1; Neurofibromatosis, Peripheral, NF1; Neurofibromatosis, Type 1; Neurofibromatosis, Type I; Pulmonic Stenosis with Cafe-au-Lait Spots; Recklinghausen's Disease of Nerve; Recklinghausens Disease of Nerve; Cafe au Lait Spots with Pulmonic Stenosis; Neurofibromatoses, Peripheral; Neurofibromatoses, Type I; Neurofibromatosis, Peripheral; Peripheral Neurofibromatoses; Pulmonic Stenosis with Cafe au Lait Spots; Syndrome, Watson; Type 1 Neurofibromatosis; Type 1, Neurofibromatosis; Type I Neurofibromatoses; Type I, Neurofibromatosis; von Recklinghausens Disease; Recklinghausen Disease of Nerve
Networked: 1565 relevant articles (28 outcomes, 123 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Plexiform Neurofibroma
2. Neurofibroma
3. Scoliosis
4. Neoplasms (Cancer)
5. Neurofibrosarcoma (MPNST)

Experts

1. Gutmann, David H: 32 articles (01/2022 - 08/2002)
2. Widemann, Brigitte C: 22 articles (11/2022 - 01/2006)
3. Ratner, Nancy: 19 articles (01/2021 - 01/2004)
4. Dombi, Eva: 18 articles (11/2022 - 05/2007)
5. Packer, Roger J: 15 articles (10/2021 - 08/2002)
6. Mautner, Victor F: 14 articles (10/2022 - 05/2004)
7. Fisher, Michael J: 13 articles (11/2022 - 07/2009)
8. Blakeley, Jaishri O: 12 articles (11/2022 - 03/2015)
9. Friedrich, Reinhard E: 12 articles (05/2022 - 05/2004)
10. Wolkenstein, Pierre: 11 articles (11/2021 - 12/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Neurofibromatosis 1:
1. AZD 6244IBA
2. Neurofibromin 1 (Neurofibromin)IBA
3. Mitogen-Activated Protein Kinase Kinases (MEKs)IBA
4. Lovastatin (Mevacor)FDA LinkGeneric
5. Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA
6. Retinaldehyde (Retinal)IBA
7. Proteins (Proteins, Gene)FDA Link
8. Fluorodeoxyglucose F18 (Fludeoxyglucose F 18)FDA Link
9. Intercellular Signaling Peptides and Proteins (Growth Factors)IBA
11/01/1993 - "Last, the insights gained from studying the molecular biology of the neurofibromatosis type 1 gene have direct impact on other biologic processes, such as neoplasia, cellular differentiation, and growth factor-mediated signal transduction as well as potential application to improved treatments for neurofibromatosis type 1 and cancer."
09/01/2004 - "Circulating growth factor levels are associated with tumorigenesis in neurofibromatosis type 1."
01/01/1988 - "Expression of selected growth factors and oncogenes in neurofibrosarcomas complicating von Recklinghausen disease."
01/01/2021 - "Malignant peripheral nerve sheath tumors (MPNST) are aggressive soft-tissue sarcomas that cause significant mortality in adults with neurofibromatosis type 1. We compared gene expression of growth factors in normal human nerves to MPNST and normal human Schwann cells to MPNST cell lines. "
03/01/2016 - "Although still in its infancy, this approach is being applied to malignant peripheral nerve sheath tumors (MPNSTs), rare Schwann cell-derived malignancies that occur sporadically, after radiotherapy, and in neurofibromatosis type 1. Studies of human neurofibromatosis type 1-associated tumors suggest that NF1 tumor suppressor loss in Schwann cells triggers cell-autonomous and intercellular changes, resulting in development of benign neurofibromas; subsequent neurofibroma-MPNST progression is caused by aberrant growth factor signaling and mutations affecting the p16(INK4A)-cyclin D1-CDK4-Rb and p19(ARF)-Mdm2-p53 cell cycle pathways. "
10. Oxidoreductases (Dehydrogenase)IBA

Therapies and Procedures

1. Therapeutics
2. Gas Lasers
3. Cochlear Implantation
4. Traction
5. Operative Surgical Procedures