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neurofibromatóza 1

  1. Subject h.neurofibromatóza 1
    Subject h.Neurofibromatosis 1
    Entry termsvon Recklinghausenova choroba
    neurofibromatóza periférna
    Recklinghausenova choroba nervov
    English X referencesPeripheral Neurofibromatosis
    Recklinghausen Disease of Nerve
    von Recklinghausen Disease
    Scope note in EnglishAn 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).
    See also reference (FX) in Slovak gény neurofibromatózy 1
    LEOPARD-syndróm
    neurofibromín 1
    Noonanovej syndróm
    See also reference (FX) in English Genes, Neurofibromatosis 1
    LEOPARD Syndrome
    Neurofibromin 1
    Noonan Syndrome
    Links (46) - ARTICLES
    (4) - MeSH descriptor
    (6) - CiBaMed
    (21) - BOOKS
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Number of the records: 1  

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