MeSH Browser

MeSH Heading: Neurofibromatosis 1
Tree Number(s): C04.557.580.600.580.590.650; C04.700.631.650; C10.562.600.500; C10.574.500.549.400; C10.668.829.675; C16.320.400.560.400; C16.320.700.633.650
Unique ID: D009456
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D009456
Annotation: 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).
Entry Term(s): Cafe-au-Lait Spots with Pulmonic Stenosis; 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; Pulmonic Stenosis with Cafe-au-Lait Spots; Recklinghausen Disease of Nerve; Recklinghausen Disease, Nerve; Recklinghausen's Disease of Nerve; Recklinghausens Disease of Nerve; Watson Syndrome; von Recklinghausen Disease; von Recklinghausen's Disease
See Also: Genes, Neurofibromatosis 1; LEOPARD Syndrome; Neurofibromin 1; Noonan Syndrome
Public MeSH Note: 1992; see NEUROFIBROMATOSIS 1966-91; for NEUROFIBROMATOSIS, PERIPHERAL, NF1 see NEUROFIBROMATOSIS 1989-1991
History Note: 1992(1966); for NEUROFIBROMATOSIS, PERIPHERAL, NF1 use NEUROFIBROMATOSIS 1989-1991
Date Established: 1992/01/01
Date of Entry: 1999/01/01
Revision Date: 2018/06/29

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Neoplasms [C04]
- Neoplasms by Histologic Type [C04.557]
  - Neoplasms, Nerve Tissue [C04.557.580]
    - Nerve Sheath Neoplasms [C04.557.580.600]
      - Neurofibroma [C04.557.580.600.580]
        
        Neurofibromatoses [C04.557.580.600.580.590]
        
        Neurofibromatosis 1 [C04.557.580.600.580.590.650]
        
        Neurofibromatosis 2 [C04.557.580.600.580.590.655]

Neoplasms [C04]
- Neoplastic Syndromes, Hereditary [C04.700]
  - Neurofibromatoses [C04.700.631]
    - Neurofibromatosis 1 [C04.700.631.650]
    - Neurofibromatosis 2 [C04.700.631.655]

Nervous System Diseases [C10]
- Neurocutaneous Syndromes [C10.562]
  - Neurofibromatoses [C10.562.600]
    - Neurofibromatosis 1 [C10.562.600.500]
    - Neurofibromatosis 2 [C10.562.600.750]

Nervous System Diseases [C10]
- Neurodegenerative Diseases [C10.574]
  - Heredodegenerative Disorders, Nervous System [C10.574.500]
    - Neurofibromatoses [C10.574.500.549]
      - Neurofibromatosis 1 [C10.574.500.549.400]
      - Neurofibromatosis 2 [C10.574.500.549.700]

Nervous System Diseases [C10]
- Neuromuscular Diseases [C10.668]
  - Peripheral Nervous System Diseases [C10.668.829]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Heredodegenerative Disorders, Nervous System [C16.320.400]
    - Neurofibromatoses [C16.320.400.560]
      - Neurofibromatosis 1 [C16.320.400.560.400]
      - Neurofibromatosis 2 [C16.320.400.560.700]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Neoplastic Syndromes, Hereditary [C16.320.700]
    - Neurofibromatoses [C16.320.700.633]
      - Neurofibromatosis 1 [C16.320.700.633.650]
      - Neurofibromatosis 2 [C16.320.700.633.655]

Neurofibromatosis 1 Preferred

Concept UI: M0014710
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).
Terms: Neurofibromatosis 1 Preferred Term
Term UI T028179
Date01/01/1999
LexicalTag NON
ThesaurusID; Recklinghausen Disease, Nerve
Term UI T842127
Date04/18/2013
LexicalTag NON
ThesaurusID NLM (2014); Neurofibromatosis, Peripheral, NF1
Term UI T028173
Date06/08/1988
LexicalTag NON
ThesaurusID UNK (19XX); Recklinghausen Disease of Nerve
Term UI T028174
Date06/15/1984
LexicalTag EPO
ThesaurusID UNK (19XX); Recklinghausens Disease of Nerve
Term UI T028175
Date09/04/1990
LexicalTag EPO
ThesaurusID NLM (1992); Recklinghausen's Disease of Nerve
Term UI T028176
Date03/30/1974
LexicalTag EPO
ThesaurusID UNK (19XX); von Recklinghausen Disease
Term UI T028177
Date06/08/1988
LexicalTag EPO
ThesaurusID; von Recklinghausen's Disease
Term UI T028178
Date09/04/1990
LexicalTag EPO
ThesaurusID NLM (1992); Neurofibromatosis, Peripheral, NF 1
Term UI T028180
Date06/08/1988
LexicalTag NON
ThesaurusID UNK (19XX); Peripheral Neurofibromatosis
Term UI T371057
Date11/03/1999
LexicalTag NON
ThesaurusID; Neurofibromatosis I
Term UI T371058
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Neurofibromatosis Type I
Term UI T371059
Date11/03/1999
LexicalTag NON
ThesaurusID; Neurofibromatosis Type 1
Term UI T371060
Date11/03/1999
LexicalTag NON
ThesaurusID; Neurofibromatosis, Type 1
Term UI T371061
Date11/03/1999
LexicalTag NON
ThesaurusID; Neurofibromatosis, Type I
Term UI T371062
Date11/03/1999
LexicalTag NON
ThesaurusID; NF1 (Neurofibromatosis 1)
Term UI T371063
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Molluscum Fibrosum
Term UI T841796
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Neurofibromatosis, Peripheral Type
Term UI T811774
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013)

Watson Syndrome Related

Neurofibromatosis 1 MeSH Descriptor Data 2025