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Descriptor in English: Neurofibromatosis 1
Descriptor in Spanish: Neurofibromatosis 1
Descriptor in Portuguese: Neurofibromatose 1
Descriptor in 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
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
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).
Annotation: do not confuse with NEUROFIBROMATOSIS 2; coord IM with precoord organ/neopl term (IM) if relevant
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
History Note: 1992(1966); for NEUROFIBROMATOSIS, PERIPHERAL, NF1 use NEUROFIBROMATOSIS 1989-1991
See also the descriptors: Genes, Neurofibromatosis 1 MeSH
LEOPARD Syndrome MeSH
Neurofibromin 1 MeSH
Noonan Syndrome MeSH
DeCS UI: 30295
Descriptor UI: D009456
Date Established: 1992/01/01
Date of Entry: 1999/01/01
Revision Date: 2018/06/29
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).
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
Watson Syndrome - Related but not broader or narrower
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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