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).

Also Known As:

Neurofibromatosis Type I; Watson Syndrome; von Recklinghausen Disease; Recklinghausen Disease, Nerve; von Recklinghausen's Disease; Peripheral Neurofibromatosis; Cafe-au-Lait Spots with Pulmonic Stenosis; Molluscum Fibrosum; NF1 (Neurofibromatosis 1); Neurofibromatosis I; Neurofibromatosis Type 1; Neurofibromatosis, Peripheral Type; Neurofibromatosis, Peripheral, NF 1; Neurofibromatosis, Peripheral, NF1; Neurofibromatosis, Type 1; Neurofibromatosis, Type I; Pulmonic Stenosis with Cafe-au-Lait Spots; Recklinghausen's Disease of Nerve; Recklinghausens Disease of Nerve; Cafe au Lait Spots with Pulmonic Stenosis; Neurofibromatoses, Peripheral; Neurofibromatoses, Type I; Neurofibromatosis, Peripheral; Peripheral Neurofibromatoses; Pulmonic Stenosis with Cafe au Lait Spots; Syndrome, Watson; Type 1 Neurofibromatosis; Type 1, Neurofibromatosis; Type I Neurofibromatoses; Type I, Neurofibromatosis; von Recklinghausens Disease; Recklinghausen Disease of Nerve

Neoplasms: 1324753
- Hereditary Neoplastic Syndromes: 112
  - Neurofibromatoses: 821
    - Neurofibromatosis 1: 1565
- Neoplasms by Histologic Type: 2
  - Nerve Tissue Neoplasms: 1
    - Nerve Sheath Neoplasms: 273
      - Neurofibroma: 844
        Neurofibromatoses: 821
        Neurofibromatosis 1: 1565
Nervous System Diseases: 14178
- Neurodegenerative Diseases: 42472
  - Nervous System Heredodegenerative Disorders: 63
    - Neurofibromatoses: 821
      - Neurofibromatosis 1: 1565
- Neuromuscular Diseases: 2005
  - Peripheral Nervous System Diseases: 11383
    - Neurofibromatosis 1: 1565
- Neurocutaneous Syndromes: 262
  - Neurofibromatoses: 821
    - Neurofibromatosis 1: 1565
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Hereditary Neoplastic Syndromes: 112
    - Neurofibromatoses: 821
      - Neurofibromatosis 1: 1565
  - Nervous System Heredodegenerative Disorders: 63
    - Neurofibromatoses: 821
      - Neurofibromatosis 1: 1565

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