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gptkbp:instanceOf
|
genetic disorder
autosomal dominant disease
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gptkbp:alsoKnownAs
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gptkb:NF1
|
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gptkbp:associatedWith
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gptkb:attention_deficit_hyperactivity_disorder
gptkb:pheochromocytoma
gptkb:autism_spectrum_disorder
epilepsy
short stature
macrocephaly
increased risk of cancer
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|
gptkbp:complication
|
hypertension
scoliosis
malignant peripheral nerve sheath tumors
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gptkbp:diagnosedBy
|
genetic testing
clinical criteria
|
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gptkbp:differentialDiagnosis
|
gptkb:Neurofibromatosis_type_2
gptkb:Legius_syndrome
gptkb:schwannomatosis
|
|
gptkbp:firstDescribed
|
gptkb:Friedrich_Daniel_von_Recklinghausen
|
|
gptkbp:frequencyOfDeNovoMutations
|
about 50%
|
|
gptkbp:hasEpidemiology
|
affects all ethnic groups equally
|
|
gptkbp:hasOrphanetID
|
636
|
|
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
|
|
gptkbp:lifeExpectancy
|
reduced compared to general population
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_17
|
|
gptkbp:mutationAssociatedWith
|
gptkb:NF1_gene
loss-of-function
|
|
gptkbp:namedAfter
|
neurofibromas
|
|
gptkbp:neurofibrominFunction
|
tumor suppressor
|
|
gptkbp:OMIM
|
162200
|
|
gptkbp:onset
|
childhood
|
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gptkbp:prevalence
|
1 in 3,000 to 4,000 people
|
|
gptkbp:proteinAffected
|
gptkb:neurofibromin
|
|
gptkbp:riskOfInheritanceFromAffectedParent
|
50%
|
|
gptkbp:supportOrganizations
|
gptkb:Children's_Tumor_Foundation
gptkb:Neurofibromatosis_Network
|
|
gptkbp:symptom
|
gptkb:Lisch_nodules
learning disabilities
café-au-lait spots
bone deformities
neurofibromas
axillary freckling
optic gliomas
|
|
gptkbp:treatment
|
symptomatic management
surgical removal of tumors
monitoring for complications
|
|
gptkbp:bfsParent
|
gptkb:rhabdomyosarcoma
|
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gptkbp:bfsLayer
|
5
|