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.

MeSH information

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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
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
Concept/Terms	Neurofibromatosis 1 Neurofibromatosis 1 Recklinghausen Disease, Nerve Recklinghausens Disease of Nerve Recklinghausen's Disease of Nerve von Recklinghausen Disease von Recklinghausen's Disease von Recklinghausens Disease Neurofibromatosis, Peripheral, NF 1 Peripheral Neurofibromatosis Neurofibromatoses, Peripheral Neurofibromatosis, Peripheral Peripheral Neurofibromatoses Neurofibromatosis I Neurofibromatosis Type I Type I, Neurofibromatosis Neurofibromatosis Type 1 Type 1, Neurofibromatosis Neurofibromatosis, Type 1 Type 1 Neurofibromatosis Neurofibromatosis, Type I Neurofibromatoses, Type I Type I Neurofibromatoses NF1 (Neurofibromatosis 1) Neurofibromatosis, Peripheral Type Molluscum Fibrosum Neurofibromatosis, Peripheral, NF1 Recklinghausen Disease of Nerve 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

Below are MeSH descriptors whose meaning is more general than "Neurofibromatosis 1".

Diseases [C]
Neoplasms [C04]
Neoplasms by Histologic Type [C04.557]
Neoplasms, Nerve Tissue [C04.557.580]
Nerve Sheath Neoplasms [C04.557.580.600]
Neurofibroma [C04.557.580.600.580]
Neurofibromatoses [C04.557.580.600.580.590]
Neurofibromatosis 1 [C04.557.580.600.580.590.650]
Neoplastic Syndromes, Hereditary [C04.700]
Neurofibromatoses [C04.700.645]
Neurofibromatosis 1 [C04.700.645.650]
Nervous System Diseases [C10]
Neurocutaneous Syndromes [C10.562]
Neurofibromatoses [C10.562.600]
Neurofibromatosis 1 [C10.562.600.500]
Neurodegenerative Diseases [C10.574]
Heredodegenerative Disorders, Nervous System [C10.574.500]
Neurofibromatoses [C10.574.500.549]
Neurofibromatosis 1 [C10.574.500.549.400]
Neuromuscular Diseases [C10.668]
Peripheral Nervous System Diseases [C10.668.829]
Neurofibromatosis 1 [C10.668.829.675]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Heredodegenerative Disorders, Nervous System [C16.320.400]
Neurofibromatoses [C16.320.400.560]
Neurofibromatosis 1 [C16.320.400.560.400]
Neoplastic Syndromes, Hereditary [C16.320.700]
Neurofibromatoses [C16.320.700.645]
Neurofibromatosis 1 [C16.320.700.645.650]

Below are MeSH descriptors whose meaning is more specific than "Neurofibromatosis 1".

publications

Timeline | Most Recent

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.

Bar chart showing 13 publications over 12 distinct years, with a maximum of 2 publications in 2012

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1999	1	0	1
2003	1	0	1
2004	0	1	1
2009	1	0	1
2012	2	0	2
2013	1	0	1
2016	1	0	1
2018	1	0	1
2019	1	0	1
2020	1	0	1
2021	1	0	1
2022	1	0	1

Below are the most recent publications written about "Neurofibromatosis 1" by people in Profiles.

Wu C, Iyer S, Wolfe SA, Jacobson A. Functional restoration of mouse Nf1 nonsense alleles in differentiated cultured neurons. J Hum Genet. 2022 Nov; 67(11):661-668.

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Crawford H, North K, Wilson MJ, Berman Y, McKelvey-Martin V, Morrison PJ, Fleming J, Barton B. Development and preliminary evaluation of the Neurofibromatosis Type 1 Adult Quality of Life (NF1-AdQoL) questionnaire. Clin Exp Dermatol. 2022 Feb; 47(2):271-281.

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Bok S, Shin DY, Yallowitz AR, Eiseman M, Cung M, Xu R, Li N, Sun J, Williams AL, Scott JE, Su B, Shim JH, Greenblatt MB. MEKK2 mediates aberrant ERK activation in neurofibromatosis type I. Nat Commun. 2020 11 11; 11(1):5704.

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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, Cort?s 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, Hern?ndez-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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D'Angelo F, Ceccarelli M, Garofano L, Zhang J, Frattini V, Caruso FP, Lewis G, Alfaro KD, Bauchet L, Berzero G, Cachia D, Cangiano M, Capelle L, de Groot J, DiMeco F, Ducray F, Farah W, Finocchiaro G, Goutagny S, Kamiya-Matsuoka C, Lavarino C, Loiseau H, Lorgis V, Marras CE, McCutcheon I, Nam DH, Ronchi S, Saletti V, Seizeur R, Slopis J, Su?ol M, Vandenbos F, Varlet P, Vidaud D, Watts C, Tabar V, Reuss DE, Kim SK, Meyronet D, Mokhtari K, Salvador H, Bhat KP, Eoli M, Sanson M, Lasorella A, Iavarone A. The molecular landscape of glioma in patients with Neurofibromatosis 1. Nat Med. 2019 01; 25(1):176-187.

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St John J, Summe H, Csikesz C, Wiss K, Hay B, Belazarian L. Multiple Caf? au Lait Spots in a Group of Fair-Skinned Children without Signs or Symptoms of Neurofibromatosis Type 1. Pediatr Dermatol. 2016 Sep; 33(5):526-9.

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Morris ME, Jones RG, Walker SK, Yancey AE, Dwivedi AJ, Ross CB. Obstructive jaundice secondary to multiple hepatic artery aneurysms in a 14-year-old boy with neurofibromatosis type 1. Ann Vasc Surg. 2013 Jul; 27(5):673.e1-4.

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LaFemina J, Qin LX, Moraco NH, Antonescu CR, Fields RC, Crago AM, Brennan MF, Singer S. Oncologic outcomes of sporadic, neurofibromatosis-associated, and radiation-induced malignant peripheral nerve sheath tumors. Ann Surg Oncol. 2013 Jan; 20(1):66-72.

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Shin J, Padmanabhan A, de Groh ED, Lee JS, Haidar S, Dahlberg S, Guo F, He S, Wolman MA, Granato M, Lawson ND, Wolfe SA, Kim SH, Solnica-Krezel L, Kanki JP, Ligon KL, Epstein JA, Look AT. Zebrafish neurofibromatosis type 1 genes have redundant functions in tumorigenesis and embryonic development. Dis Model Mech. 2012 Nov; 5(6):881-94.

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Padmanabhan A, Lee JS, Ismat FA, Lu MM, Lawson ND, Kanki JP, Look AT, Epstein JA. Cardiac and vascular functions of the zebrafish orthologues of the type I neurofibromatosis gene NFI. Proc Natl Acad Sci U S A. 2009 Dec 29; 106(52):22305-10.

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