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gptkbp:instanceOf
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gptkb:neurocutaneous_syndrome
genetic disorder
autosomal dominant disease
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gptkbp:affects
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gptkb:skin
gptkb:nervous_system
eyes
bones
endocrine system
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gptkbp:alsoKnownAs
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gptkb:NF1
von Recklinghausen disease
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gptkbp:associatedWith
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gptkb:Schwannomatosis
Neurofibromatosis type II
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gptkbp:complication
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gptkb:pheochromocytoma
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:frequencyOfDeNovoMutations
|
about 50%
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gptkbp:geneFunction
|
tumor suppressor
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gptkbp:geneProduct
|
gptkb:neurofibromin
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Neurofibromatosis type I
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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
|
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gptkbp:locatedOnChromosome
|
gptkb:chromosome_17
|
|
gptkbp:MeSH_ID
|
D009445
|
|
gptkbp:mutationAssociatedWith
|
gptkb:NF1_gene
loss of function
|
|
gptkbp:OMIM
|
162200
|
|
gptkbp:onset
|
childhood
|
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gptkbp:organization
|
gptkb:Children's_Tumor_Foundation
gptkb:Neurofibromatosis_Network
|
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gptkbp:prevalence
|
1 in 3,000 individuals
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gptkbp:riskOfMalignancy
|
increased
|
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gptkbp:symptom
|
gptkb:Lisch_nodules
learning disabilities
café-au-lait spots
bone deformities
neurofibromas
axillary freckling
optic gliomas
|
|
gptkbp:treatment
|
genetic counseling
symptomatic management
surgical removal of tumors
|
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gptkbp:UMLS_CUI
|
C0027819
|
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gptkbp:bfsParent
|
gptkb:Recklinghausen's_disease
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gptkbp:bfsLayer
|
8
|