Descriptors Found: 1
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Descriptor English:   Neurofibromatosis 1 
Descriptor Spanish:   Neurofibromatosis 1 
Descriptor Portuguese:   Neurofibromatose 1 
Synonyms English:   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:   C04.557.580.600.580.590.650
Definition English:   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). 
Indexing Annotation English:   do not confuse with NEUROFIBROMATOSIS 2; coord IM with precoord organ/neopl term (IM) if relevant
See Related English:   Genes, Neurofibromatosis 1
LEOPARD Syndrome
Neurofibromin 1
Noonan Syndrome
History Note English:   1992(1966); for NEUROFIBROMATOSIS, PERIPHERAL, NF1 use NEUROFIBROMATOSIS 1989-1991 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   30295 
Unique Identifier:   D009456 

Occurrence in VHL: