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DeCS
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Descriptor English:
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Neurofibromatosis 1
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Descriptor Spanish:
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Neurofibromatosis 1
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Descriptor Portuguese:
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Neurofibromatose 1
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Synonyms English:
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Peripheral Neurofibromatosis
Recklinghausen Disease of Nerve
von Recklinghausen Disease
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Tree Number:
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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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Definition English:
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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). |
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Indexing Annotation English:
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do not confuse with NEUROFIBROMATOSIS 2; coord IM with precoord organ/neopl term (IM) if relevant
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See Related English:
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Genes, Neurofibromatosis 1
LEOPARD Syndrome
Neurofibromin 1
Noonan Syndrome
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History Note English:
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1992(1966); for NEUROFIBROMATOSIS, PERIPHERAL, NF1 use NEUROFIBROMATOSIS 1989-1991
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Allowable Qualifiers English:
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Record Number:
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30295
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Unique Identifier:
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D009456
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Occurrence in VHL:
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Similar:
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DeCS SciELO LILACS LIS
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