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PERIPHERAL NEUROFIBROMATOSIS [1 record]
Record 1 - internal organization data 2012-07-11
Record 1, English
Record 1, Subject field(s)
- Human Diseases - Various
- Nervous System
- Genetics
Record 1, Main entry term, English
- neurofibromatosis 1
1, record 1, English, neurofibromatosis%201
correct
Record 1, Abbreviations, English
- NF1 1, record 1, English, NF1
correct
Record 1, Synonyms, English
- peripheral neurofibromatosis 1, record 1, English, peripheral%20neurofibromatosis
correct
- von Recklinghausen disease 1, record 1, English, von%20Recklinghausen%20disease
correct
Record 1, Textual support, English
Record number: 1, Textual support number: 1 DEF
A disorder of autosomal dominant inheritance, marked by developmental changes in the nervous system, muscles, bones, and skin with café au lait spots, intertriginous freckling, Lisch nodules, and multiple pedunculated neurofibromas over much of the body. 1, record 1, English, - neurofibromatosis%201
Record number: 1, Textual support number: 1 OBS
Its cause is absence of the tumor suppressor neurofibromin, which is coded by a gene on chromosome 17q. 1, record 1, English, - neurofibromatosis%201
Record number: 1, Textual support number: 2 OBS
Neurofibromatosis 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., neurofibromatosis 2, neurofibromatosis 3, etc.) have been described. 2, record 1, English, - neurofibromatosis%201
Record 1, French
Record 1, Domaine(s)
- Maladies humaines diverses
- Système nerveux
- Génétique
Record 1, Main entry term, French
- neurofibromatose de type I
1, record 1, French, neurofibromatose%20de%20type%20I
correct, feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
- maladie de von Recklinghausen 1, record 1, French, maladie%20de%20von%20Recklinghausen
correct, feminine noun
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
maladie de von Recklinghausen. Maladie héréditaire autosomique dominante, à pénétrance complète et expressivité variable. Elle est caractérisée par l'association de taches cutanées pigmentaires (dites «taches café au lait»), de tumeurs cutanées et sous-cutanées fibreuses et de neurofibromes siégeant sur le trajet de nerfs périphériques, crâniens (notamment le nerf cochléaire) ou spinaux, et qui peuvent provoquer des troubles neurologiques. Cette affection fait partie des phacomatoses. 1, record 1, French, - neurofibromatose%20de%20type%20I
Record number: 1, Textual support number: 1 OBS
Le terme neurofibromatose a été introduit en 1882 par von Recklinghausen. Sous ce nom, sont regroupées plusieurs affections dont les principales sont : - La neurofibromatose de type 1 (NF1) ou maladie de von Recklinghausen - La neurofibromatose de type 2 (NF2). 2, record 1, French, - neurofibromatose%20de%20type%20I
Record 1, Spanish
Record 1, Campo(s) temático(s)
- Enfermedades humanas varias
- Sistema nervioso
- Genética
Record 1, Main entry term, Spanish
- neurofibromatosis
1, record 1, Spanish, neurofibromatosis
correct, feminine noun
Record 1, Abbreviations, Spanish
Record 1, Synonyms, Spanish
Record 1, Textual support, Spanish
Record number: 1, Textual support number: 1 DEF
Enfermedad congénita que se caracteriza por la formación de neuromas, deformaciones físicas y una predisposición a desarrollar tumores cerebrales y diversos tipos de cáncer. 1, record 1, Spanish, - neurofibromatosis
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