Skip navigation

Disease Neurofibromatosis 1

Name Neurofibromatosis 1
Synonyms Cafe au Lait Spots with Pulmonic Stenosis | Cafe-au-Lait Spots with Pulmonic Stenosis | Molluscum Fibrosum | Neurofibromatoses, Peripheral | Neurofibromatoses, Type I | Neurofibromatosis I | Neurofibromatosis, Peripheral | Neurofibromatosis, Peripheral, NF1 | Neurofibromatosis, Peripheral, NF 1 | Neurofibromatosis, Peripheral Type | Neurofibromatosis Type 1 | Neurofibromatosis, Type 1 | Neurofibromatosis Type I | Neurofibromatosis, Type I | NF1 | NF1 (Neurofibromatosis 1) | Peripheral Neurofibromatoses | Peripheral Neurofibromatosis | Pulmonic Stenosis with Cafe au Lait Spots | Pulmonic Stenosis with Cafe-au-Lait Spots | Recklinghausen Disease, Nerve | Recklinghausen Disease of Nerve | Recklinghausen's Disease of Nerve | Recklinghausens Disease of Nerve | Syndrome, Watson | Type 1 Neurofibromatosis | Type 1, Neurofibromatosis | Type I Neurofibromatoses | Type I, Neurofibromatosis | von Recklinghausen Disease | von Recklinghausen's Disease | von Recklinghausens Disease | Watson Syndrome
Definition 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).
Categories Cancer | Genetic disease (inborn) | Nervous system disease
MeSH® ID D009456
OMIM® ID 162200
External Links

Top ↑ Ancestors

1. DiseasesNeoplasms Has associated chemicals Has associated genes Has associated exposure references Neoplasms by Histologic Type Has associated chemicals Has associated genes Has associated exposure references Neoplasms, Nerve Tissue Has associated chemicals Has associated genes Has associated exposure references Nerve Sheath Neoplasms Has associated chemicals Has associated genes Has associated exposure references Neurofibroma Has associated chemicals Has associated genes Neurofibromatoses Has associated chemicals Has associated genes Neurofibromatosis 1 Has associated chemicals Has associated genes
2. DiseasesNeoplasms Has associated chemicals Has associated genes Has associated exposure references Neoplastic Syndromes, Hereditary Has associated chemicals Has associated genes Has associated exposure references Neurofibromatoses Has associated chemicals Has associated genes Neurofibromatosis 1 Has associated chemicals Has associated genes
3. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurocutaneous Syndromes Has associated chemicals Has associated genes Neurofibromatoses Has associated chemicals Has associated genes Neurofibromatosis 1 Has associated chemicals Has associated genes
4. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurodegenerative Diseases Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Neurofibromatoses Has associated chemicals Has associated genes Neurofibromatosis 1 Has associated chemicals Has associated genes
5. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neuromuscular Diseases Has associated chemicals Has associated genes Has associated exposure references Peripheral Nervous System Diseases Has associated chemicals Has associated genes Neurofibromatosis 1 Has associated chemicals Has associated genes
6. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Neurofibromatoses Has associated chemicals Has associated genes Neurofibromatosis 1 Has associated chemicals Has associated genes
7. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Neoplastic Syndromes, Hereditary Has associated chemicals Has associated genes Has associated exposure references Neurofibromatoses Has associated chemicals Has associated genes Neurofibromatosis 1 Has associated chemicals Has associated genes

Top ↑ Descendants

Neurofibromatosis 1 Has associated chemicals Has associated genes
  WATSON SYNDROME Has associated chemicals Has associated genes