neurofibromatosis, type I

URI: https://gptkb.org/entity/neurofibromatosis,_type_I
GPTKB entity
Statements (32)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:alsoKnownAs gptkb:NF1
von Recklinghausen disease
gptkbp:complication gptkb:pheochromocytoma
hypertension
scoliosis
optic glioma
gptkbp:diagnosedBy genetic testing
clinical criteria
gptkbp:firstDescribed gptkb:Friedrich_Daniel_von_Recklinghausen
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:chromosome_17
gptkbp:mutationAssociatedWith gptkb:NF1_gene
gptkbp:OMIM 162200
gptkbp:onset childhood
gptkbp:organization gptkb:Children's_Tumor_Foundation
gptkb:Neurofibromatosis_Network
gptkbp:prevalence 1 in 3,000
gptkbp:riskFactor malignant peripheral nerve sheath tumors
gptkbp:symptom gptkb:Lisch_nodules
learning disabilities
café-au-lait spots
bone deformities
neurofibromas
axillary freckling
gptkbp:treatment symptomatic management
surgical removal of tumors
gptkbp:bfsParent gptkb:NF1
gptkbp:bfsLayer 7