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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 > Neurocutaneous Syndromes > Neurofibromatoses > Neurofibromatosis 1
... > Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > 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
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > 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
... > Nervous System Diseases > Neuromuscular Diseases > Peripheral Nervous System Diseases > Peripheral Nervous System Neoplasms > Nerve Sheath Neoplasms > Neurofibroma > 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
... > Neoplasms > Neoplasms by Histologic Type > Neoplasms, Nerve Tissue > Nerve Sheath Neoplasms > Neurofibroma > Neurofibromatoses > Neurofibromatosis 1

Preferred term

Neurofibromatosis 1  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Molluscum Fibrosum
  • Neurofibromatoses, Peripheral
  • Neurofibromatoses, Type I
  • Neurofibromatosis I
  • Neurofibromatosis, Peripheral
  • 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 Neurofibromatoses
  • Peripheral Neurofibromatosis
  • Recklinghausen Disease, Nerve
  • Recklinghausen Disease of Nerve
  • Recklinghausen's Disease of Nerve
  • Recklinghausens Disease of Nerve
  • Type 1 Neurofibromatosis
  • Type 1, Neurofibromatosis
  • Type I Neurofibromatoses
  • Type I, Neurofibromatosis
  • von Recklinghausen Disease
  • von Recklinghausen's Disease
  • von Recklinghausens Disease

Note

  • do not confuse with NEUROFIBROMATOSIS 2; coord IM with precoord organ/neopl term (IM) if relevant

Scope note

  • 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).

History note

  • 1992(1966); for NEUROFIBROMATOSIS, PERIPHERAL, NF1 use NEUROFIBROMATOSIS 1989-1991

In other languages

  • neurofibromatoosi 1

    Finnish

  • morbus Recklinghausen
  • morbus von Recklinghausen
  • neurofibromatoosi tyyppi 1
  • neurofibromatosis 1
  • NF1
  • Recklinghausen
  • Recklinghausenin neurofibromatoosi
  • Recklinhausenin tauti
  • tyypin 1 neurofibromatoosi
  • von Recklinghausen
  • von Recklinghausenin neurofibromatoosi
  • von Recklinghausenin tauti
  • Neurofibromatos 1

    Swedish

  • Molluscum fibrosum
  • Recklinghausens sjukdom
  • von Recklinghausens sjukdom
  • Watson syndrom

URI

http://www.yso.fi/onto/mesh/D009456

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