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gptkbp:instanceOf
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gptkb:neurocutaneous_syndrome
genetic disorder
autosomal dominant disease
|
|
gptkbp:affects
|
gptkb:skin
gptkb:nervous_system
eyes
bones
blood vessels
|
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gptkbp:alsoKnownAs
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gptkb:NF1
von Recklinghausen disease
|
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gptkbp:associatedWith
|
gptkb:neurofibromatosis_type_II
gptkb:attention_deficit_hyperactivity_disorder
gptkb:schwannomatosis
gptkb:autism_spectrum_disorder
epilepsy
short stature
macrocephaly
increased risk of cancer
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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
|
|
gptkbp:frequencyOfNewMutations
|
high
|
|
gptkbp:geneProduct
|
gptkb:neurofibromin
|
|
gptkbp:hasOrphanetID
|
636
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
neurofibromatosis type I
|
|
gptkbp:ICD-10_code
|
Q85.0
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:locatedOnChromosome
|
gptkb:17q11.2
|
|
gptkbp:mutationAssociatedWith
|
gptkb:NF1_gene
loss of function
|
|
gptkbp:neurofibrominFunction
|
tumor suppressor
|
|
gptkbp:OMIM
|
162200
|
|
gptkbp:onset
|
childhood
|
|
gptkbp:prevalence
|
1 in 3000 individuals
|
|
gptkbp:riskOfInheritanceFromAffectedParent
|
50%
|
|
gptkbp:symptom
|
gptkb:Lisch_nodules
learning disabilities
café-au-lait spots
neurofibromas
optic glioma
axillary freckling
bone dysplasia
inguinal freckling
|
|
gptkbp:treatment
|
symptomatic management
monitoring for complications
surgical removal of neurofibromas
|
|
gptkbp:bfsParent
|
gptkb:neurofibromatosis_type_II
|
|
gptkbp:bfsLayer
|
7
|