"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
- 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
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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.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2001 | 0 | 1 | 1 |
| 2007 | 1 | 0 | 1 |
| 2014 | 0 | 1 | 1 |
| 2015 | 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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Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience. Neurosurg Focus. 2022 05; 52(5):E2.
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Psychiatric disorders in individuals with neurofibromatosis 1 in Denmark: A nationwide register-based cohort study. Am J Med Genet A. 2021 12; 185(12):3706-3716.
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Pregnancy outcomes in women with neurofibromatosis 1: a Danish population-based cohort study. J Med Genet. 2022 03; 59(3):237-242.
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Clinical characteristics and quality of life, depression, and anxiety in adults with neurofibromatosis type 1: A nationwide study. Am J Med Genet A. 2020 07; 182(7):1704-1715.
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Multisystem burden of neurofibromatosis 1 in Denmark: registry- and population-based rates of hospitalizations over the life span. Genet Med. 2020 06; 22(6):1069-1078.
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Neurofibromatosis 1-associated panhypopituitarism presenting as hypoglycaemic seizures and stroke-like symptoms. BMJ Case Rep. 2015 Nov 03; 2015.
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Use of the harmonic blade scalpel as a novel technique for thoracoscopic resection of pediatric paraspinal masses in children. J Laparoendosc Adv Surg Tech A. 2014 Apr; 24(4):274-9.
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Malignant peripheral nerve sheath tumor with glandular differentiation in a patient with neurofibromatosis type 1. Am J Dermatopathol. 2013 Dec; 35(8):859-63.
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Multiple pilocytic astrocytomas of the cerebellum in a 17-year-old patient with neurofibromatosis type I. Childs Nerv Syst. 2007 Oct; 23(10):1191-4.
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A case of neurofibromatosis-Noonan syndrome with a central giant cell granuloma. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004 Sep; 98(3):316-20.