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| Descriptor English: | Neurofibromatosis 1 | ||||||
| Descriptor Spanish: |
Neurofibromatosis 1
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| Descriptor Portuguese: | Neurofibromatose 1 | ||||||
| Descriptor French: | Neurofibromatose de type 1 | ||||||
| Entry term(s): |
Cafe au Lait Spots with Pulmonic Stenosis Cafe-au-Lait Spots with Pulmonic Stenosis Molluscum Fibrosum NF1 (Neurofibromatosis 1) Neurofibromatoses, Peripheral Neurofibromatoses, Type I Neurofibromatosis I Neurofibromatosis Type 1 Neurofibromatosis Type I Neurofibromatosis, Peripheral Neurofibromatosis, Peripheral Type Neurofibromatosis, Peripheral, NF 1 Neurofibromatosis, Peripheral, NF1 Neurofibromatosis, Type 1 Neurofibromatosis, Type I Peripheral Neurofibromatoses Peripheral Neurofibromatosis Pulmonic Stenosis with Cafe au Lait Spots Pulmonic Stenosis with Cafe-au-Lait Spots Recklinghausen Disease of Nerve Recklinghausen Disease, Nerve Recklinghausen's Disease of Nerve Recklinghausens Disease of Nerve Syndrome, Watson Type 1 Neurofibromatosis Type 1, Neurofibromatosis Type I Neurofibromatoses Type I, Neurofibromatosis Watson Syndrome von Recklinghausen Disease von Recklinghausen's Disease von Recklinghausens Disease |
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| 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 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D009456 | ||||||
| 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). |
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| Annotation: | do not confuse with NEUROFIBROMATOSIS 2; coord IM with precoord organ/neopl term (IM) if relevant |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Public MeSH Note: | 1992; see NEUROFIBROMATOSIS 1966-91; for NEUROFIBROMATOSIS, PERIPHERAL, NF1 see NEUROFIBROMATOSIS 1989-1991 |
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| History Note: | 1992(1966); for NEUROFIBROMATOSIS, PERIPHERAL, NF1 use NEUROFIBROMATOSIS 1989-1991 |
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| Related: |
Genes, Neurofibromatosis 1
MeSH LEOPARD Syndrome MeSH Neurofibromin 1 MeSH Noonan Syndrome MeSH | ||||||
| DeCS ID: | 30295 | ||||||
| Unique ID: | D009456 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1992/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2018/06/29 |
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DISEASES
Neoplasms [C04]Neoplasms -
DISEASES
Neoplasms [C04]Neoplasms
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Neurofibromatosis 1
- Preferred
Watson Syndrome
- Related but not broader or narrower
| 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). |
| Preferred term | Neurofibromatosis 1 |
| Entry term(s) |
Molluscum Fibrosum NF1 (Neurofibromatosis 1) Neurofibromatoses, Peripheral Neurofibromatoses, Type I Neurofibromatosis I Neurofibromatosis Type 1 Neurofibromatosis Type I Neurofibromatosis, Peripheral Neurofibromatosis, Peripheral Type Neurofibromatosis, Peripheral, NF 1 Neurofibromatosis, Peripheral, NF1 Neurofibromatosis, Type 1 Neurofibromatosis, Type I Peripheral Neurofibromatoses Peripheral Neurofibromatosis Recklinghausen Disease of Nerve Recklinghausen Disease, 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 |
| Concept UI |
M0374985 |
| Scope note | 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). |
| Preferred term | Watson Syndrome |
| Entry term(s) |
Cafe au Lait Spots with Pulmonic Stenosis Cafe-au-Lait Spots with Pulmonic Stenosis Pulmonic Stenosis with Cafe au Lait Spots Pulmonic Stenosis with Cafe-au-Lait Spots Syndrome, Watson |
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