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Neurofibromatosis 1 MeSH Descriptor Data 2022


MeSH Heading
Neurofibromatosis 1
Tree Number(s)
C04.557.580.600.580.590.650
C04.700.631.650
C10.562.600.500
C10.574.500.549.400
C10.668.829.675
C16.320.400.560.400
C16.320.700.633.650
Unique ID
D009456
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D009456
Annotation
do not confuse with NEUROFIBROMATOSIS 2; coord IM with precoord organ/neopl term (IM) if relevant
Scope Note
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).
Entry Term(s)
Cafe-au-Lait Spots with Pulmonic Stenosis
Molluscum Fibrosum
NF1 (Neurofibromatosis 1)
Neurofibromatosis I
Neurofibromatosis Type 1
Neurofibromatosis Type I
Neurofibromatosis, Peripheral Type
Neurofibromatosis, Peripheral, NF 1
Neurofibromatosis, Peripheral, NF1
Neurofibromatosis, Type 1
Neurofibromatosis, Type I
Peripheral Neurofibromatosis
Pulmonic Stenosis with Cafe-au-Lait Spots
Recklinghausen Disease of Nerve
Recklinghausen Disease, Nerve
Recklinghausen's Disease of Nerve
Recklinghausens Disease of Nerve
Watson Syndrome
von Recklinghausen Disease
von Recklinghausen's Disease
See Also
Genes, Neurofibromatosis 1
LEOPARD Syndrome
Neurofibromin 1
Noonan Syndrome
Public MeSH Note
1992; see NEUROFIBROMATOSIS 1966-91; for NEUROFIBROMATOSIS, PERIPHERAL, NF1 see NEUROFIBROMATOSIS 1989-1991
History Note
1992(1966); for NEUROFIBROMATOSIS, PERIPHERAL, NF1 use NEUROFIBROMATOSIS 1989-1991
Date Established
1992/01/01
Date of Entry
1999/01/01
Revision Date
2018/06/29
Neurofibromatosis 1 Preferred
Watson Syndrome Related
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