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Nervous System Diseases > Neurocutaneous Syndromes > Neurofibromatoses > Neurofibromatosis 1
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Ectodermal Dysplasia > Neurocutaneous Syndromes > Neurofibromatoses > Neurofibromatosis 1
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Ectodermal Dysplasia > Neurocutaneous Syndromes > Neurofibromatoses > Neurofibromatosis 1
... > Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Ectodermal Dysplasia > Neurocutaneous Syndromes > Neurofibromatoses > Neurofibromatosis 1
... > Skin and Connective Tissue Diseases > Skin Diseases > Skin Abnormalities > Ectodermal Dysplasia > Neurocutaneous Syndromes > Neurofibromatoses > Neurofibromatosis 1
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Skin Abnormalities > Ectodermal Dysplasia > Neurocutaneous Syndromes > Neurofibromatoses > Neurofibromatosis 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Neoplastic Syndromes, Hereditary > Neurofibromatoses > Neurofibromatosis 1
Neoplasms > Neoplastic Syndromes, Hereditary > Neurofibromatoses > Neurofibromatosis 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Neurofibromatoses > Neurofibromatosis 1
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Neurofibromatoses > Neurofibromatosis 1
... > Nervous System Diseases > Nervous System Neoplasms > Peripheral Nervous System Neoplasms > Nerve Sheath Neoplasms > Neurofibroma > Neurofibromatoses > Neurofibromatosis 1
... > Neoplasms > Neoplasms by Site > Nervous System Neoplasms > Peripheral Nervous System Neoplasms > Nerve Sheath Neoplasms > Neurofibroma > Neurofibromatoses > Neurofibromatosis 1
... > Nervous System Diseases > Neuromuscular Diseases > Peripheral Nervous System Diseases > Peripheral Nervous System Neoplasms > Nerve Sheath Neoplasms > Neurofibroma > Neurofibromatoses > Neurofibromatosis 1
... > Neoplasms > Neoplasms by Histologic Type > Neoplasms, Nerve Tissue > Nerve Sheath Neoplasms > Neurofibroma > Neurofibromatoses > Neurofibromatosis 1

Terme préférentiel

Neurofibromatosis 1  

Type

  • mesh:Descriptor

Définition

  • 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). A syndrome characterized by the presence of PULMONARY STENOSIS; CAFE-AU-LAIT SPOTS; MENTAL RETARDATION; and short stature caused by mutations in the NF1 gene (GENES, NEUROFIBROMATOSIS 1).

Concept générique

Concepts associés

Synonyme(s)

  • Molluscum Fibrosum
  • Neurofibromatosis I
  • Neurofibromatosis, Peripheral, NF 1
  • Neurofibromatosis, Peripheral, NF1
  • Neurofibromatosis, Peripheral Type
  • Neurofibromatosis Type 1
  • Neurofibromatosis, Type 1
  • Neurofibromatosis Type I
  • Neurofibromatosis, Type I
  • NF1 (Neurofibromatosis 1)
  • Peripheral Neurofibromatosis
  • Recklinghausen Disease, Nerve
  • Recklinghausen Disease of Nerve
  • Recklinghausen's Disease of Nerve
  • Recklinghausens Disease of Nerve
  • von Recklinghausen Disease
  • von Recklinghausen's Disease

Qualificatif(s) autorisé(s)

Traductions

  • Neurofibromatose de type 1

    français

  • Gliofibromatose
  • Maladie de Recklinghausen
  • Maladie de von Recklinghausen
  • Neurofibromatose de Recklinghausen
  • Neurofibromatose de type I
  • Neurofibromatose de type périphérique
  • Neurofibromatose périphérique
  • Neurogliomatose
  • NF-1 (NeuroFibromatose de type 1)
  • NF1 (NeuroFibromatose de type 1)
  • Polyfibromatose neurocutanée pigmentaire

URI

http://data.loterre.fr/ark:/67375/JVR-PZ3DDLBR-L

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 29/06/2018