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Illness finder is a diagnostic medicine tool for educational purpose that looks up your patients' health conditions or symptoms and diagnosis and find diseases or illnesses based on chosen gender, age, risk factors, illness, signs, symptoms and prevalence. Illnessfinder is inspired by Evidence based medicine (EMB) and healthcare that aims to apply the best (most reliable) knowledge that is available at decision time. Illnessfinder aims to free up time for the therapeutic dialogue and ensure quality at the evidence based practice, uniting proven medical findings and clinical evidence with systematised data technology.
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| Neurofibromatosis 1 | Legal notice |
Other terms
NF1 (Neurofibromatosis 1),Recklinghausens Disease of Nerve,Recklinghausen's Disease of Nerve,Recklinghausen Disease, Nerve,von Recklinghausen Disease,von Recklinghausen's Disease,von Recklinghausens Disease,Neurofibromatosis, Peripheral, NF 1,Peripheral Neurofibromatosis,Neurofibromatoses, Peripheral,Neurofibromatosis, Peripheral,Peripheral Neurofibromatoses,Neurofibromatosis I,Neurofibromatosis Type I,I, Neurofibromatosis Type,Type I, Neurofibromatosis,Neurofibromatosis Type 1,Type 1, Neurofibromatosis,Neurofibromatosis, Type 1,Type 1 Neurofibromatosis,Neurofibromatosis, Type I,Neurofibromatoses, Type I,Type I Neurofibromatoses,Neurofibromatosis, Peripheral, NF1,Recklinghausen Disease of Nerve,Watson Syndrome,Syndrome, Watson
Description
Neurofibromatosis 1: 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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Legal notice
The U.S. National Library of Medicine is the creator, maintainer, and provider of the data above.
The version of the data is 2010 MeSH. Last reviewed April 26, 2010. No modification has been made in the content of the file.
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