Next Generation Sequencing Competence Network

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).

Descriptor ID	D009456
MeSH Number(s)	C04.557.580.600.580.590.650 C04.700.645.650 C10.562.600.500 C10.574.500.549.400 C10.668.829.675 C16.320.400.560.400 C16.320.700.645.650
Concept/Terms	Neurofibromatosis 1 Neurofibromatosis 1 Recklinghausen Disease, Nerve Recklinghausens Disease of Nerve Recklinghausen's Disease of 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 Type I, Neurofibromatosis Neurofibromatosis Type 1 Type 1, Neurofibromatosis Neurofibromatosis, Type 1 Type 1 Neurofibromatosis Neurofibromatosis, Type I Neurofibromatoses, Type I Type I Neurofibromatoses NF1 (Neurofibromatosis 1) Neurofibromatosis, Peripheral Type Molluscum Fibrosum Neurofibromatosis, Peripheral, NF1 Recklinghausen Disease of Nerve Watson Syndrome Watson Syndrome Syndrome, Watson Pulmonic Stenosis with Cafe-au-Lait Spots Pulmonic Stenosis with Cafe au Lait Spots Cafe-au-Lait Spots with Pulmonic Stenosis Cafe au Lait Spots with Pulmonic Stenosis

Below are MeSH descriptors whose meaning is more general than "Neurofibromatosis 1".

Below are MeSH descriptors whose meaning is related to "Neurofibromatosis 1".

Below are MeSH descriptors whose meaning is more specific than "Neurofibromatosis 1".