Number of the records: 1
neurofibromatóza 1
Record number d009456 Date 06.06.2025 Type M - MESH Topical term neurofibromatóza 1 Other term English (Pseudonym) Peripheral Neurofibromatosis
English (Pseudonym) Recklinghausen Disease of Nerve
English (Pseudonym) von Recklinghausen Disease
Slovak (Pseudonym) von Recklinghausenova choroba
Slovak (Pseudonym) neurofibromatóza periférna
Slovak (Pseudonym) Recklinghausenova choroba nervov
See also (Skutočné meno) Noonanovej syndróm
(Skutočné meno) gény neurofibromatózy 1
(Skutočné meno) neurofibromín 1
(Skutočné meno) LEOPARD-syndróm
(Later heading) Noonanovej syndróm
(Later heading) gény neurofibromatózy 1
(Later heading) neurofibromín 1
(Later heading) LEOPARD-syndróm
UDC C04.557.580.600.580.590.650C04.700.631.650C10.562.600.500C10.574.500.549.400C10.668.829.675C16.320.400.560.400C16.320.700.633.650 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). 
subject heading
Number of the records: 1