Neurofibromatosis 1
"Neurofibromatosis 1" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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).
Descriptor ID |
D009456
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MeSH Number(s) |
C04.557.580.600.580.590.650 C04.700.645.650 C10.562.600.500 C10.574.500.549.400 C10.668.829.675 C16.320.400.560.400 C16.320.700.645.650
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Concept/Terms |
Neurofibromatosis 1- Neurofibromatosis 1
- Neurofibromatosis Type 1
- Type 1, Neurofibromatosis
- Neurofibromatosis Type I
- I, Neurofibromatosis Type
- Type I, Neurofibromatosis
- Neurofibromatosis, Peripheral, NF 1
- Neurofibromatosis, Peripheral, NF1
- Neurofibromatosis, Type 1
- Type 1 Neurofibromatosis
- Neurofibromatosis, Type I
- Neurofibromatoses, Type I
- Type I Neurofibromatoses
- NF1 (Neurofibromatosis 1)
- Peripheral Neurofibromatosis
- Neurofibromatoses, Peripheral
- Neurofibromatosis, Peripheral
- Peripheral Neurofibromatoses
- Recklinghausen Disease of Nerve
- Recklinghausen's Disease of Nerve
- Recklinghausen Disease, Nerve
- Recklinghausens Disease of Nerve
- von Recklinghausen Disease
- von Recklinghausen's Disease
- von Recklinghausens Disease
- Neurofibromatosis I
Watson Syndrome- Watson Syndrome
- Syndrome, Watson
- Cafe-au-Lait Spots with Pulmonic Stenosis
- Cafe au Lait Spots with Pulmonic Stenosis
- Pulmonic Stenosis with Cafe-au-Lait Spots
- Pulmonic Stenosis with Cafe au Lait Spots
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Below are MeSH descriptors whose meaning is more general than "Neurofibromatosis 1".
Below are MeSH descriptors whose meaning is more specific than "Neurofibromatosis 1".
This graph shows the total number of publications written about "Neurofibromatosis 1" by people in this website by year, and whether "Neurofibromatosis 1" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
Year | Major Topic | Minor Topic | Total |
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1981 | 0 | 1 | 1 | 1984 | 0 | 1 | 1 | 1985 | 1 | 0 | 1 | 1986 | 1 | 0 | 1 | 1992 | 1 | 0 | 1 | 1994 | 1 | 0 | 1 | 1995 | 1 | 0 | 1 | 1997 | 1 | 0 | 1 | 1998 | 1 | 0 | 1 | 1999 | 1 | 0 | 1 | 2000 | 3 | 0 | 3 | 2006 | 2 | 0 | 2 | 2010 | 1 | 0 | 1 | 2011 | 1 | 0 | 1 | 2012 | 2 | 0 | 2 | 2013 | 1 | 0 | 1 | 2014 | 1 | 0 | 1 | 2016 | 1 | 0 | 1 | 2019 | 2 | 0 | 2 | 2020 | 1 | 0 | 1 | 2021 | 1 | 0 | 1 | 2022 | 1 | 0 | 1 |
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Below are the most recent publications written about "Neurofibromatosis 1" by people in Profiles.
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Weber P, Amin S, Qiu M. Decompression Retinopathy after Ahmed Glaucoma Valve in a Patient with Neurofibromatosis Type 1 and Moyamoya Syndrome. Ophthalmology. 2022 Jul; 129(7):802.
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Weiss BD, Wolters PL, Plotkin SR, Widemann BC, Tonsgard JH, Blakeley J, Allen JC, Schorry E, Korf B, Robison NJ, Goldman S, Vinks AA, Emoto C, Fukuda T, Robinson CT, Cutter G, Edwards L, Dombi E, Ratner N, Packer R, Fisher MJ. NF106: A Neurofibromatosis Clinical Trials Consortium Phase II Trial of the MEK Inhibitor Mirdametinib (PD-0325901) in Adolescents and Adults With NF1-Related Plexiform Neurofibromas. J Clin Oncol. 2021 03 01; 39(7):797-806.
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Polster SP, Dougherty MC, Zeineddine HA, Lyne SB, Smith HL, MacKenzie C, Pytel P, Yang CW, Tonsgard JH, Warnke PC, Frim DM. Dural Ectasia in Neurofibromatosis 1: Case Series, Management, and Review. Neurosurgery. 2020 05 01; 86(5):646-655.
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Payne JM, Haebich KM, MacKenzie R, Walsh KS, Hearps SJC, Coghill D, Barton B, Pride NA, Ullrich NJ, Tonsgard JH, Viskochil D, Schorry EK, Klesse L, Fisher MJ, Gutmann DH, Rosser T, Packer RJ, Korf B, Acosta MT, Bellgrove MA, North KN. Cognition, ADHD Symptoms, and Functional Impairment in Children and Adolescents With Neurofibromatosis Type 1. J Atten Disord. 2021 06; 25(8):1177-1186.
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Payne JM, Hearps SJC, Walsh KS, Paltin I, Barton B, Ullrich NJ, Haebich KM, Coghill D, Gioia GA, Cantor A, Cutter G, Tonsgard JH, Viskochil D, Rey-Casserly C, Schorry EK, Ackerson JD, Klesse L, Fisher MJ, Gutmann DH, Rosser T, Packer RJ, Korf B, Acosta MT, North KN. Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1. Ann Clin Transl Neurol. 2019 12; 6(12):2555-2565.
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Payne JM, Barton B, Ullrich NJ, Cantor A, Hearps SJ, Cutter G, Rosser T, Walsh KS, Gioia GA, Wolters PL, Tonsgard J, Schorry E, Viskochil D, Klesse L, Fisher M, Gutmann DH, Silva AJ, Hunter SJ, Rey-Casserly C, Cantor NL, Byars AW, Stavinoha PL, Ackerson JD, Armstrong CL, Isenberg J, O'Neil SH, Packer RJ, Korf B, Acosta MT, North KN. Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1. Neurology. 2016 Dec 13; 87(24):2575-2584.
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Weiss B, Widemann BC, Wolters P, Dombi E, Vinks A, Cantor A, Perentesis J, Schorry E, Ullrich N, Gutmann DH, Tonsgard J, Viskochil D, Korf B, Packer RJ, Fisher MJ. Sirolimus for progressive neurofibromatosis type 1-associated plexiform neurofibromas: a neurofibromatosis Clinical Trials Consortium phase II study. Neuro Oncol. 2015 Apr; 17(4):596-603.
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Klein-Tasman BP, Janke KM, Luo W, Casnar CL, Hunter SJ, Tonsgard J, Trapane P, van der Fluit F, Kais LA. Cognitive and psychosocial phenotype of young children with neurofibromatosis-1. J Int Neuropsychol Soc. 2014 Jan; 20(1):88-98.
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Patel NB, Stacy GS. Musculoskeletal manifestations of neurofibromatosis type 1. AJR Am J Roentgenol. 2012 Jul; 199(1):W99-106.
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Lastra RR, Bavuso N, Randall TC, Brooks JS, Barroeta JE. Neurofibroma of the cervix presenting as cervical stenosis in a patient with neurofibromatosis type 1: a case report. Int J Gynecol Pathol. 2012 Mar; 31(2):192-194.
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