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Identifiant pérenne de la notice : 040746771Copier cet identifiant (PPN)
URI de l'entité : http://www.idref.fr/040746771/idCopier cet URI
Notice de type FMeSH

Point d'accès autorisé

Neurofibromatose de type 1

Variantes de point d'accès

Recklinghausen Disease of Nerve
[Nom commun]
Recklinghausens Disease of Nerve
[Nom commun]
Recklinghausen's Disease of Nerve
[Nom commun]
von Recklinghausen Disease
[Nom commun]
von Recklinghausen's Disease
[Nom commun]
von Recklinghausens Disease
[Nom commun]
Neurofibromatosis, Peripheral, NF 1
[Nom commun]
Peripheral Neurofibromatosis
[Nom commun]
Neurofibromatoses, Peripheral
[Nom commun]
Neurofibromatosis, Peripheral
[Nom commun]
Peripheral Neurofibromatoses
[Nom commun]
Neurofibromatosis I
[Nom commun]
Neurofibromatosis Type I
[Nom commun]
Type I, Neurofibromatosis
[Nom commun]
Neurofibromatosis Type 1
[Nom commun]
Type 1, Neurofibromatosis
[Nom commun]
Neurofibromatosis, Type 1
[Nom commun]
Type 1 Neurofibromatosis
[Nom commun]
Neurofibromatosis, Type I
[Nom commun]
Neurofibromatoses, Type I
[Nom commun]
Type I Neurofibromatoses
[Nom commun]
NF1 (Neurofibromatosis 1)
[Nom commun]
Neurofibromatosis, Peripheral Type
[Nom commun]
Molluscum Fibrosum
[Nom commun]
Recklinghausen Disease, Nerve
[Nom commun]
Neurofibromatosis, Peripheral, NF1
[Nom commun]
Gliofibromatose
[Nom commun]
Maladie de Recklinghausen
[Nom commun]
Maladie de von Recklinghausen
[Nom commun]
NF-1 (NeuroFibromatose de type 1)
[Nom commun]
NF1 (NeuroFibromatose de type 1)
[Nom commun]
Neurofibromatose de Recklinghausen
[Nom commun]
Neurofibromatose de type I
[Nom commun]
Neurofibromatose de type périphérique
[Nom commun]
Neurofibromatose périphérique
[Nom commun]
Neurogliomatose
[Nom commun]
Polyfibromatose neurocutanée pigmentaire
[Nom commun]
Watson Syndrome
[Nom commun]
Syndrome, Watson
[Nom commun]
Pulmonic Stenosis with Cafe-au-Lait Spots
[Nom commun]
Pulmonic Stenosis with Cafe au Lait Spots
[Nom commun]
Cafe-au-Lait Spots with Pulmonic Stenosis
[Nom commun]
Cafe au Lait Spots with Pulmonic Stenosis
[Nom commun]
Syndrome de Watson
[Nom commun]
Sténose pulmonaire avec taches café-au-lait
[Nom commun]
Taches café-au-lait avec sténose pulmonaire
[Nom commun]
Gliofibromatose
[Nom commun]
Maladie de Recklinghausen
[Nom commun]
Maladie de von Recklinghausen
[Nom commun]
NF-1 (NeuroFibromatose de type 1)
[Nom commun]
NF1 (NeuroFibromatose de type 1)
[Nom commun]
Neurofibromatose de Recklinghausen
[Nom commun]
Neurofibromatose de type I
[Nom commun]
Neurofibromatose de type périphérique
[Nom commun]
Neurofibromatose périphérique
[Nom commun]
Neurogliomatose
[Nom commun]
Polyfibromatose neurocutanée pigmentaire
[Nom commun]

Informations

Note publique d''information : 
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)

Note publique d''information : 
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)

Note générale sur le champ d'application : 
do not confuse with NEUROFIBROMATOSIS 2; coord IM with precoord organ/neopl term (IM) if relevant

Point d'accès autorisé parallèle

Neurofibromatosis 1

Identifiants externes

Identifiant MeSH : mesD009456

Utilisation dans FMeSH

Qualificatifs autorisés : DI / PS / IM / MI / DG / PP / RH / EN / ET / MO / EP / BL / CF / CI / DH / DT / TH / PX / UR / VI / VE / HI / CL / EC / EM / GE / NU / RT / EH / PC / PA / ME / CO / SU1992(1966); for NEUROFIBROMATOSIS, PERIPHERAL, NF1 use NEUROFIBROMATOSIS 1989-1991

Informations sur la notice

Identifiant de la notice : 040746771
RCR créateur de la notice : 0001
Date de création : 23-09-1998
RCR dernier modificateur de la notice : 1999
Date de dernière modification : 20-03-2024 à 17 h 13

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