 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 I
- 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, Peripheral Type
- Neurofibromatosis Type 1
- Type 1, Neurofibromatosis
- Neurofibromatosis Type I
- I, Neurofibromatosis Type
- Type I, Neurofibromatosis
Watson Syndrome- Watson Syndrome
- Syndrome, Watson
- Pulmonic Stenosis with Cafe-au-Lait Spots
- Pulmonic Stenosis with Cafe au Lait Spots
- Cafe-au-Lait Spots with Pulmonic Stenosis
- Cafe au Lait Spots with Pulmonic Stenosis
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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 UAMS Profiles 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 |
|---|
| 2019 | 3 | 0 | 3 | | 2018 | 1 | 0 | 1 | | 2016 | 1 | 0 | 1 | | 2014 | 1 | 0 | 1 | | 2010 | 2 | 0 | 2 | | 2009 | 1 | 0 | 1 | | 2006 | 1 | 0 | 1 | | 2004 | 0 | 1 | 1 | | 2003 | 1 | 0 | 1 | | 1998 | 1 | 0 | 1 | | 1997 | 1 | 0 | 1 | | 1991 | 1 | 0 | 1 | | 1989 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Neurofibromatosis 1" by people in Profiles over the past ten years.
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Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. Hum Mutat. 2020 01; 41(1):299-315.
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Rodriguez FJ, Graham MK, Brosnan-Cashman JA, Barber JR, Davis C, Vizcaino MA, Palsgrove DN, Giannini C, Pekmezci M, Dahiya S, Gokden M, Noë M, Wood LD, Pratilas CA, Morris CD, Belzberg A, Blakeley J, Heaphy CM. Telomere alterations in neurofibromatosis type 1-associated solid tumors. Acta Neuropathol Commun. 2019 08 28; 7(1):139.
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Ritter A, Cuddapah S, Degenhardt K, Kasperski S, Johnson MP, O'Connor MJ, Ahrens-Nicklas R. Fetal cardiomyopathy in neurofibromatosis type I: Novel phenotype and review of the literature. Am J Med Genet A. 2019 06; 179(6):1042-1046.
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Palsgrove DN, Brosnan-Cashman JA, Giannini C, Raghunathan A, Jentoft M, Bettegowda C, Gokden M, Lin D, Yuan M, Lin MT, Heaphy CM, Rodriguez FJ. Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association. Mod Pathol. 2018 12; 31(12):1787-1800.
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Goyal S, Park A, Zeglam A, Brown H, Pemberton JD. Choroidal Ganglioneuroma and Orbital Plexiform Neurofibroma Presenting as Buphthalmos in an Infant With Neurofibromatosis Type 1. Ophthalmic Plast Reconstr Surg. 2016 Jul-Aug; 32(4):e87-9.
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Widemann BC, Babovic-Vuksanovic D, Dombi E, Wolters PL, Goldman S, Martin S, Goodwin A, Goodspeed W, Kieran MW, Cohen B, Blaney SM, King A, Solomon J, Patronas N, Balis FM, Fox E, Steinberg SM, Packer RJ. Phase II trial of pirfenidone in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas. Pediatr Blood Cancer. 2014 Sep; 61(9):1598-602.
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