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Neurofibromatosis 1
Hierarchy: | ∟ ∟ ∟ ∟ ∟ ∟ ∟ Neurofibromatosis 1 17 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ Neurofibromatosis 1 17 coordinate concepts∟ ∟ ∟ ∟ ∟ Neurofibromatosis 1 17 coordinate concepts∟ ∟ ∟ ∟ ∟ Neurofibromatosis 1 17 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ Neurofibromatosis 1 17 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ Neurofibromatosis 1 17 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Neurofibromatosis 1 17 coordinate concepts∟ ∟ ∟ ∟ Neurofibromatosis 1 17 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ Neurofibromatosis 1 17 coordinate concepts∟ ∟ ∟ ∟ Neurofibromatosis 1 17 coordinate concepts∟ ∟ ∟ ∟ ∟ Neurofibromatosis 1 17 coordinate concepts∟ ∟ ∟ ∟ Neurofibromatosis 1 17 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Neurofibromatosis 1 17 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ Neurofibromatosis 1 17 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ Neurofibromatosis 1 17 coordinate conceptsX |
Broader terms: | ∟ ∟ ∟ ∟ ∟ ∟ ∟ Neurofibromatosis 1 ∟ ∟ ∟ ∟ ∟ ∟ ∟ Neurofibromatosis 1 ∟ ∟ ∟ ∟ ∟ Neurofibromatosis 1 ∟ ∟ ∟ ∟ ∟ Neurofibromatosis 1 ∟ ∟ ∟ ∟ ∟ ∟ ∟ Neurofibromatosis 1 ∟ ∟ ∟ ∟ ∟ ∟ ∟ Neurofibromatosis 1 ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Neurofibromatosis 1 ∟ ∟ ∟ ∟ Neurofibromatosis 1 ∟ ∟ ∟ ∟ ∟ ∟ ∟ Neurofibromatosis 1 ∟ ∟ ∟ ∟ Neurofibromatosis 1 ∟ ∟ ∟ ∟ ∟ Neurofibromatosis 1 ∟ ∟ ∟ ∟ Neurofibromatosis 1 ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Neurofibromatosis 1 ∟ ∟ ∟ ∟ ∟ ∟ ∟ Neurofibromatosis 1 ∟ ∟ ∟ ∟ ∟ ∟ ∟ Neurofibromatosis 1 |
Annotation: | do not confuse with NEUROFIBROMATOSIS 2; coord IM with precoord organ/neopl term (IM) if relevant
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historyNote*: | 1992(1966); for NEUROFIBROMATOSIS, PERIPHERAL, NF1 use NEUROFIBROMATOSIS 1989-1991
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publicMeSHNote*: | 1992; see NEUROFIBROMATOSIS 1966-91; for NEUROFIBROMATOSIS, PERIPHERAL, NF1 see NEUROFIBROMATOSIS 1989-1991
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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).
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activeMeSHYear*: | |
dateCreated*: | 1999-01-01X |
dateRevised*: | 2005-07-27X |
recordAuthorizer*: | agsX |
recordMaintainer*: | agsX |
recordOriginator*: | NLMX |
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Labels and equivalent concepts: | Neurofibromatoosi 1 (fi) XVon Recklinghausenin neurofibromatoosi (fi, replaced) Von Recklinghausenin tauti (fi, replaced) Tyypin 1 neurofibromatoosi (fi, replaced) NF1 (fi, replaced) Neurofibromatos 1 (sv) von Recklinghausens sjukdom (sv, replaced) Recklinghausens sjukdom (sv, replaced) LEOPARD-syndrom (sv, replaced) von Recklinghausen's Disease (en, replaced) von Recklinghausen Disease (en, replaced) Recklinghausens Disease of Nerve (en, replaced) Neurofibromatosis, Peripheral, NF1 (en, replaced) Neurofibromatosis, Peripheral, NF 1 (en, replaced) Neurofibromatosis Type I (en, replaced) Neurofibromatosis Type 1 (en, replaced) Neurofibromatosis, Type 1 (en, replaced) Neurofibromatosis, Type I (en, replaced) Recklinghausen's Disease of Nerve (en, replaced) Recklinghausen Disease of Nerve (en, replaced) Peripheral Neurofibromatosis (en, replaced) NF1 (Neurofibromatosis 1) (en, replaced) Neurofibromatosis I (en, replaced) Morbus Recklinghausen (la-FI, replaced) Morbus von Recklinghausen (la-FI, replaced) Neurofibromatosis 1 (la-FI, replaced) |
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