"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
|
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".
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 |
---|
1994 | 1 | 0 | 1 |
1996 | 1 | 0 | 1 |
1999 | 3 | 0 | 3 |
2000 | 3 | 0 | 3 |
2001 | 2 | 0 | 2 |
2002 | 1 | 0 | 1 |
2003 | 3 | 0 | 3 |
2004 | 2 | 1 | 3 |
2005 | 1 | 1 | 2 |
2006 | 1 | 0 | 1 |
2007 | 1 | 0 | 1 |
2008 | 1 | 0 | 1 |
2009 | 2 | 1 | 3 |
2010 | 3 | 1 | 4 |
2011 | 5 | 0 | 5 |
2012 | 2 | 1 | 3 |
2013 | 3 | 2 | 5 |
2014 | 7 | 0 | 7 |
2015 | 3 | 0 | 3 |
2016 | 4 | 0 | 4 |
2017 | 6 | 1 | 7 |
2018 | 5 | 0 | 5 |
2019 | 4 | 1 | 5 |
2020 | 2 | 0 | 2 |
2021 | 2 | 0 | 2 |
2022 | 5 | 0 | 5 |
2023 | 3 | 0 | 3 |
To return to the timeline,
click here.
Below are the most recent publications written about "Neurofibromatosis 1" by people in Profiles.
-
Bone mineral density, vitamin D and osseous metabolism indices in neurofibromatosis type 1: A systematic review and meta-analysis. Bone. 2024 03; 180:116992.
-
An unusual presentation of bilateral optic pathway glioma in Crouzon Syndrome. Pediatr Hematol Oncol. 2023; 40(8):800-806.
-
Trametinib in Patients With NF1-, GNAQ-, or GNA11-Mutant Tumors: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocols S1 and S2. JCO Precis Oncol. 2023 04; 7:e2200421.
-
Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1. Acta Neuropathol. 2022 10; 144(4):747-765.
-
Identifying Bone Matrix Impairments in a Mouse Model of Neurofibromatosis Type 1 (NF1) by Clinically Translatable Techniques. J Bone Miner Res. 2022 08; 37(8):1603-1621.
-
Neurofibromatosis from Head to Toe: What the Radiologist Needs to Know. Radiographics. 2022 Jul-Aug; 42(4):1123-1144.
-
Clinical impact of selumetinib on pediatric elephantiasis neuromatosa. Pediatr Dermatol. 2022 Sep; 39(5):764-766.
-
Managing Headache Disorders Associated with Tuberous Sclerosis and Neurofibromatosis. Curr Pain Headache Rep. 2022 Apr; 26(4):281-288.
-
Coincidental Expression of Classic Hodgkin Lymphoma and Neurofibromatosis Type I and Literature Review. J Pediatr Hematol Oncol. 2021 05 01; 43(4):e535-e538.
-
Comparison of Cancer Prevalence in Patients With Neurofibromatosis Type 1 at an Academic Cancer Center vs in the General Population From 1985 to 2020. JAMA Netw Open. 2021 03 01; 4(3):e210945.