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gptkbp:instanceOf
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genetic disorder
autosomal dominant disease
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gptkbp:affects
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gptkb:skin
gptkb:nervous_system
eyes
bones
blood vessels
|
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gptkbp:alsoKnownAs
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gptkb:NF1
|
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gptkbp:complication
|
hypertension
scoliosis
malignant peripheral nerve sheath tumor
|
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gptkbp:diagnosedBy
|
genetic testing
clinical criteria
|
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gptkbp:firstDescribed
|
gptkb:Friedrich_Daniel_von_Recklinghausen
|
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gptkbp:frequencyOfDeNovoMutation
|
about 50%
|
|
gptkbp:geneFunction
|
tumor suppressor
|
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gptkbp:geneProduct
|
gptkb:neurofibromin
|
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gptkbp:hasEpidemiology
|
affects all ethnic groups
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
neurofibromatosis type 1
|
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gptkbp:ICD-10_code
|
Q85.0
|
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gptkbp:inheritance
|
autosomal dominant
|
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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
|
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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:chromosome_17
gptkb:pancreatic_neuroendocrine_tumors
|
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gptkbp:bfsLayer
|
6
|