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 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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1999 | 1 | 0 | 1 | 2003 | 1 | 0 | 1 | 2004 | 0 | 1 | 1 | 2009 | 2 | 0 | 2 | 2012 | 2 | 0 | 2 | 2013 | 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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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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Giugliano GR, Sethi PS. Spontaneous left anterior descending coronary artery dissection in a patient with neurofibromatosis. J Invasive Cardiol. 2009 Jun; 21(6):e103-5.
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Erbay SH, Oljeski SA, Bhadelia R. Rapid development of optic glioma in a patient with hybrid phakomatosis: neurofibromatosis type 1 and tuberous sclerosis. AJNR Am J Neuroradiol. 2004 Jan; 25(1):36-8.
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Poissant SF, Megerian CA, Hume D. Cochlear implantation in a patient with neurofibromatosis type 1 and profound hearing loss: evidence to support a cochlear site of lesion. Otol Neurotol. 2003 Sep; 24(5):751-6.
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Zhou R, Popkin JH, Levey J. Jejunal schwannoma in neurofibromatosis: an unusual cause of massive gastrointestinal bleeding. Am J Gastroenterol. 1999 Jan; 94(1):275-6.
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