Related MeSH Hierarchy (7)
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Heredodegenerative Disorders, Nervous System » Neurofibromatoses » Neurofibromatosis 1
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Neoplastic Syndromes, Hereditary » Neurofibromatoses » Neurofibromatosis 1
Diseases [C] » Neoplasms [C04] » Neoplasms by Histologic Type » Neoplasms, Nerve Tissue » Nerve Sheath Neoplasms » Neurofibroma » Neurofibromatoses » Neurofibromatosis 1
Diseases [C] » Neoplasms [C04] » Neoplastic Syndromes, Hereditary » Neurofibromatoses » Neurofibromatosis 1
Diseases [C] » Nervous System Diseases [C10] » Neurocutaneous Syndromes » Neurofibromatoses » Neurofibromatosis 1
Diseases [C] » Nervous System Diseases [C10] » Neurodegenerative Diseases » Heredodegenerative Disorders, Nervous System » Neurofibromatoses » Neurofibromatosis 1
Diseases [C] » Nervous System Diseases [C10] » Neuromuscular Diseases » Peripheral Nervous System Diseases » Neurofibromatosis 1
Description
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). MeSH
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Approved Indicated Drugs (1)
Phase 4 Indicated Drugs (3)
Phase 3 Indicated Drugs (2)
Phase 2 Indicated Drugs (28)
Other Experimental Indicated Drugs (3)
Organization Involved with Phase 4 Indications (2)
Organization Involved with Phase 3 Indications (5)
Organization Involved with Phase 2 Indications (57)
Betta Pharmaceuticals Co.,Ltd.
Children's National Medical Center
Memorial Sloan-Kettering Cancer Center
National Institutes of Health (NIH)
Pediatric Brain Tumor Consortium
Organization Involved with Phase 1 Indications (6)
Organization Involved with Other Experimental Indications (1)
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