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; von Recklinghausen's Disease; Recklinghausen Disease, Nerve; Peripheral Neurofibromatosis; Cafe-au-Lait Spots with Pulmonic Stenosis; NF1 (Neurofibromatosis 1); Neurofibromatosis I; Neurofibromatosis Type 1; 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; I, Neurofibromatosis Type; 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: 1078 relevant articles (9 outcomes, 61 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

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


1. Gutmann, David H: 17 articles (08/2015 - 08/2002)
2. Plotkin, Scott R: 12 articles (03/2015 - 01/2009)
3. Mautner, Victor F: 12 articles (01/2015 - 11/2005)
4. Ratner, Nancy: 10 articles (10/2015 - 01/2004)
5. Parada, Luis F: 10 articles (01/2015 - 02/2007)
6. Widemann, Brigitte C: 9 articles (06/2015 - 01/2006)
7. Peltonen, Juha: 9 articles (01/2015 - 03/2002)
8. Wolkenstein, Pierre: 8 articles (01/2015 - 12/2003)
9. Dombi, Eva: 7 articles (10/2015 - 05/2007)
10. Pacak, Karel: 7 articles (04/2015 - 06/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Neurofibromatosis 1:
1. Neurofibromin 1 (Neurofibromin)IBA
2. Fluorodeoxyglucose F18 (Fludeoxyglucose F 18)FDA Link
3. Cholecalciferol (Vitamin D3)FDA Link
4. Retinaldehyde (Retinal)IBA
5. Lovastatin (Mevacor)FDA LinkGeneric
6. Carbon DioxideIBA
7. Bone Morphogenetic Proteins (Bone Morphogenetic Protein)IBA
8. VitaminsIBA
9. Succinate Dehydrogenase (Fumarate Reductase)IBA
01/01/2014 - "Recent studies of these so-called wild-type GISTs have uncovered a number of other oncogenic drivers, including mutations in neurofibromatosis type I, RAS genes, BRAF, and subunits of the succinate dehydrogenase complex. "
01/01/2015 - "The description of new genes linked to familial forms of PCC/PGLs, such as succinate dehydrogenase (SDH) complex subunits, KIF1Bβ, EGLN1, TMEM127, and MAX, added to the well-known PCC familial syndrome (MEN2, VHL, and neurofibromatosis type 1) presents new challenges for diagnosis. "
01/01/2014 - "The molecular biology of these GIST, originally defined as KIT/PDGFRA wild-type (WT), is complex due to the existence of different subgroups with distinct molecular hallmarks, including defects in the succinate dehydrogenase (SDH) complex and mutations of neurofibromatosis type 1 (NF1), BRAF, or KRAS genes (RAS-pathway or RAS-P).In this extremely heterogeneous landscape, the clinical profile and molecular abnormalities of the small subgroup of WT GIST suitably referred to as quadruple wild-type GIST (quadrupleWT or KITWT/PDGFRAWT/SDHWT/RAS-PWT) remains undefined. "
09/01/2012 - "We assessed succinate dehydrogenase complex subunit B (SDHB) and IGF1R expression by immunohistochemistry in eight known succinate dehydrogenase-deficient GISTs, three GISTs arising in the setting of neurofibromatosis type 1 syndrome and 40 unselected GISTs. "
02/01/2014 - "Three syndromic conditions-Von Hippel-Lindau (vhl), multiple endocrine neoplasia type 2 (men2), and neurofibromatosis type 1 (nf1)-and three genes-subunits of the succinate dehydrogenase (SDH) complex: SDHB, SDHC, and SDHD-are established causes of hereditary pheo-pgl. "
10. Genetic Markers (Genetic Marker)IBA

Therapies and Procedures

1. Gas Lasers
2. Cochlear Implantation
3. Radiotherapy
4. Drug Therapy (Chemotherapy)
5. Transplants (Transplant)