Diseases

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).

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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).

MeSH Record

Classification

Broader headings

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MeSH Record

See Also

MeSH Record

Synonyms

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

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

Indexing Annotation

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

MeSH Record

History Note

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

MeSH Hierarchy

Tree Numbers

  1. C04w.557.580.600w.580w.590w.650w
  2. C04w.700w.631w.650w
  3. C10w.562w.600w.500w
  4. C10w.574w.500.549w.400w
  5. C10w.668w.829w.675w
  6. C16w.320w.400.560w.400w
  7. C16w.320w.700w.633w.650w

AMA Style

References

  1. National Library of Medicine. Neurofibromatosis 1. Medical Subject Headings (MeSH). 2026. Unique ID D009456. http://id.nlm.nih.gov/mesh/2026/D009456
  2. Neurofibromatosis 1. In: Wikipedia. https://en.wikipedia.org/wiki/Neurofibromatosis_type_I
  3. Neurofibromatosis 1. In: Wikidata. https://www.wikidata.org/wiki/Q7616509