"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).
- 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
- 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".
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