Preferred Label : neurofibromatosis 1;
MeSH definition : 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).;
MeSH synonym : neurofibromatoses, peripheral; neurofibromatosis, peripheral, nf 1; nf1 (neurofibromatosis 1); neurofibromatosis, type i; recklinghausen disease of nerve; recklinghausen disease, nerve; neurofibromatosis type 1; neurofibromatosis type i; von recklinghausen's disease; type i, neurofibromatosis; type 1, neurofibromatosis; neurofibromatosis, type 1; type 1 neurofibromatosis; neurofibromatoses, type i; type i neurofibromatoses; neurofibromatosis, peripheral, nf1; recklinghausens disease of nerve; recklinghausen's disease of nerve; von recklinghausen disease; von recklinghausens disease; peripheral neurofibromatosis; neurofibromatosis, peripheral; peripheral neurofibromatoses; neurofibromatosis i; neurofibromatosis, peripheral type; molluscum fibrosum;
CISMeF synonym : i, neurofibromatosis type;
Related MeSH term : watson syndrome; Syndrome, Watson; Pulmonic Stenosis with Cafe-au-Lait Spots; Pulmonic Stenosis with Cafe au Lait Spots; Cafe-au-Lait Spots with Pulmonic Stenosis; Cafe au Lait Spots with Pulmonic Stenosis;
MeSH annotation : do not confuse with NEUROFIBROMATOSIS 2; coord IM with precoord organ/neopl term (IM)
if relevant;
Wikipedia link : https://en.wikipedia.org/wiki/Neurofibromatosis type I;
Origin ID : D009456;
UMLS CUI : C0027831;
Allowable qualifiers
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
False automatic mappings
Manual BTNT mappings - CISMeF
Manual NTBT mappings (CISMeF)
MedlinePlus topic(s)
ORDO relation(s)
Record concept(s)
See also
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)
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).
https://www.has-sante.fr/jcms/p_3283954/fr/neurofibromatose-1
2021
false
false
false
France
neurofibromatosis 1
case management
neurofibromatosis 1
neurofibromatosis 1
practice guideline
---
http://www.orpha.net/data/patho/Emg/Int/fr/Neurofibromatose1_FR_fr_EMG_ORPHA636.pdf
2019
false
false
false
France
emergency service, hospital
emergency medical services
neurofibromatosis 1
spinal cord compression
stroke
convulsive seizures
pheochromocytoma
hemorrhage
neurofibroma, plexiform
hypertension
emergency treatment
guideline
neurofibromatosis 1
seizures
---
http://www.sudoc.fr/20321787X
2017
false
false
false
France
French
dissertations, academic
Pediatricians
pediatrics
dermatology
Advertisement
consultation
malingering
neurofibromatosis 1
neurofibromatoses
Pediatricians
pediatrics
dermatology
disclosure
consultants
malingering
neurofibromatosis 1
neurofibromatoses
office visits
---
https://dumas.ccsd.cnrs.fr/dumas-01333225
2016
false
true
false
France
French
dissertations, academic
child
neurofibromatosis 1
---
http://www.has-sante.fr/portail/jcms/c_2734080/fr/neurofibromatose-de-type-1
2016
false
false
false
France
French
practice guideline
neurofibromatosis 1
neurofibromatosis 1
neurofibromatosis 1
neurofibromatosis 1
watchful waiting
general practice
severity of illness index
pregnancy
general practitioners
---
http://kce.fgov.be/fr/publication/report/tests-oncog%C3%A9n%C3%A9tiques-diagnostic-et-suivi-des-syndromes-de-birt-hogg-dub%C3%A9-fammm-et#.VR5WzOEXuAo
https://kce.fgov.be/sites/default/files/2021-11/KCE_243Bs_test_oncogenetiques_neurofibromatose_resume.pdf
2015
false
false
false
Belgium
French
genetic predisposition to disease
practice guideline
french abstract
neurofibromatosis 1
neurofibromatosis 2
Birt-Hogg-Dube syndrome
dysplastic nevus syndrome
genetic testing
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=636
2014
true
France
French
neurofibromatosis 1
scientific and technical information
---
http://nf.sante.univ-nantes.fr/
France
French
neurofibromatosis 1
association of patients
---
https://www.snfge.org/sites/www.snfge.org/files/medias/documents/3%20GENMAD%20neurofribomatose%20de%20type%201%20janvier%202012-1.pdf
2012
false
false
France
French
neurofibromatosis 1
scientific and technical information
---
http://www.kokcinelo.fr/
France
French
association of patients
neurofibromatosis 1
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=137605
2011
France
scientific and technical information
neurofibromatoses
Legius syndrome
neurofibromatoses
syndrome
neurofibromatosis, nos
neurofibromatosis 1
legius syndrome
---
http://www.aboutkidshealth.ca/Fr/HealthAZ/ConditionsandDiseases/GeneticDisorders/Pages/Genetics-of-Neurofibromatosis-Type-1-NF1.aspx
2010
false
true
false
Canada
neurofibromatosis 1
popular works
child
neurofibromatosis 1
---
http://www.aboutkidshealth.ca/Fr/HealthAZ/ConditionsandDiseases/GeneticDisorders/Pages/Neurofibromatosis-Type-1-NF1-Genetic-Testing.aspx
2010
false
true
false
Canada
neurofibromatosis 1
genetic testing
popular works
neurofibromatosis 1
child
---
http://www.aboutkidshealth.ca/Fr/HealthAZ/ConditionsandDiseases/GeneticDisorders/Pages/Medical-Care-for-Your-Child-with-Neurofibromatosis-Type-1-NF1.aspx
2010
false
true
false
Canada
neurofibromatosis 1
neurofibromatosis 1
neurofibromatosis 1
adolescent
child, preschool
child
child development
popular works
neurofibromatosis 1
child care
---
http://www.aboutkidshealth.ca/Fr/HealthAZ/ConditionsandDiseases/GeneticDisorders/Pages/Neurofibromatosis-Type-1-NF1-Genetic-Counselling.aspx
2010
false
true
false
Canada
neurofibromatosis 1
neurofibromatosis 1
neurofibromatosis 1
popular works
child
neurofibromatosis 1
office visits
---
https://www.jle.com/fr/revues/medecine/nro/e-docs/00/04/6A/6B/article.phtml
https://www.jle.com/fr/revues/medecine/nro/e-docs/00/04/6A/6B/telecharger.phtml?code_langue=fr&format=application/pdf&titre=Version%20PDF
2010
France
French
journal article
neurofibromatosis 1
neurofibromatosis 1
---
http://www.tousalecole.fr/content/neurofibromatose-1-ou-maladie-de-von-recklinghausen
2010
true
France
French
schools
child
neurofibromatosis 1
Mainstreaming, Education
popular works
---
http://www.aboutkidshealth.ca/Fr/HealthAZ/ConditionsandDiseases/GeneticDisorders/Pages/Neurofibromatosis-Type-1-NF1-How-is-it-Diagnosed.aspx
2010
false
true
false
Canada
neurofibromatosis 1
genetic testing
popular works
child
neurofibromatosis 1
---
http://www.aboutkidshealth.ca/Fr/HealthAZ/ConditionsandDiseases/GeneticDisorders/Pages/Neurofibromatosis-Type-1-NF1-Treating-Health-Complications.aspx
2010
false
true
false
Canada
neurofibromatosis 1
child
popular works
neurofibromatosis 1
---
http://www.aboutkidshealth.ca/Fr/HealthAZ/ConditionsandDiseases/GeneticDisorders/Pages/Neurofibromatosis-Type-1-NF1-Resources.aspx
2010
false
true
false
Canada
canada
health promotion
popular works
child
neurofibromatosis 1
---
http://www.aboutkidshealth.ca/Fr/HealthAZ/ConditionsandDiseases/GeneticDisorders/Pages/Neurofibromatosis-Type-1-NF1.aspx
2010
false
true
false
Canada
neurofibromatosis 1
popular works
child
neurofibromatosis 1
---
http://www.orpha.net/data/patho/Pub/fr/Neurofibromatose1-FRfrPub185v01.pdf
2006
France
French
neurofibromatosis 1
neurofibromatosis 1
signs and symptoms
neurofibromatosis 1
prenatal diagnosis
patient education handout
hotlines
---
http://atlasgeneticsoncology.org/Educ/MicrodeletionID30059FS.html
2006
France
French
English
chromosome deletion
molecular biology
digeorge syndrome
prader-willi syndrome
angelman syndrome
neurofibromatosis 1
genes, neurofibromatosis 1
williams syndrome
phenotype
chromosomes, human, pair 17
chromosomes, human, pair 8
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=638
2004
France
French
neurofibromatoses
neurofibromatosis 1
noonan syndrome
Neurofibromatosis-Noonan syndrome
scientific and technical information
---
http://www.snof.org/maladies/recklinghausen.html
2003
France
French
neurofibromatosis 1
neurofibromatosis 1
neurofibromatosis 1
signs and symptoms
popular works
image
---
http://neurofibromatoses.aphp.fr/docs/Recommandationsdesuiv.pdf
http://neurofibromatoses.aphp.fr/docs/pdf_38249.pdf
2002
France
French
neurofibromatosis 1
neurofibromatosis 1
neurofibromatosis 1
consensus
---