|
gptkbp:instanceOf
|
gptkb:genetic_disorder
gptkb:autosomal_dominant_disease
|
|
gptkbp:affects
|
gptkb:skin
gptkb:nervous_system
eyes
bones
blood vessels
|
|
gptkbp:alsoKnownAs
|
gptkb:NF1
|
|
gptkbp:complication
|
hypertension
scoliosis
malignant peripheral nerve sheath tumor
|
|
gptkbp:diagnosedBy
|
genetic testing
clinical criteria
|
|
gptkbp:firstDescribed
|
gptkb:Friedrich_Daniel_von_Recklinghausen
|
|
gptkbp:frequencyOfDeNovoMutation
|
about 50%
|
|
gptkbp:geneFunction
|
gptkb:tumor_suppressor
|
|
gptkbp:geneProduct
|
gptkb:neurofibromin
|
|
gptkbp:hasEpidemiology
|
affects all ethnic groups
|
|
gptkbp:ICD-10_code
|
Q85.0
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:inheritanceRiskToOffspring
|
50% if one parent affected
|
|
gptkbp:lifeExpectancy
|
slightly reduced
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_17
|
|
gptkbp:mutationAssociatedWith
|
gptkb:NF1_gene
loss of function
|
|
gptkbp:OMIM
|
162200
|
|
gptkbp:onset
|
childhood
|
|
gptkbp:organization
|
gptkb:Children's_Tumor_Foundation
gptkb:Neurofibromatosis_Network
|
|
gptkbp:parent
|
neurofibromatosis
|
|
gptkbp:prevalence
|
1 in 3,000
|
|
gptkbp:relatedTo
|
gptkb:schwannomatosis
gptkb:neurofibromatosis_type_2
|
|
gptkbp:riskOfMalignancy
|
increased
|
|
gptkbp:symptom
|
gptkb:Lisch_nodules
learning disabilities
café-au-lait spots
bone deformities
neurofibromas
optic glioma
axillary freckling
|
|
gptkbp:treatment
|
symptomatic management
surgical removal of tumors
monitoring for complications
|
|
gptkbp:bfsParent
|
gptkb:17q11.2
gptkb:NF1
gptkb:selumetinib
gptkb:NF1_protein
gptkb:chromosome_17
gptkb:pheochromocytoma
gptkb:PD0325901
gptkb:juvenile_xanthogranuloma
gptkb:T-cell_acute_lymphoblastic_leukemia
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
neurofibromatosis type 1
|