neurofibromatosis type II

URI: https://gptkb.org/entity/neurofibromatosis_type_II
GPTKB entity
Statements (37)
Predicate Object
gptkbp:instanceOf genetic disorder
rare disease
gptkbp:alsoKnownAs gptkb:NF2
gptkbp:complication deafness
facial nerve palsy
spinal cord tumors
gptkbp:diagnosedBy MRI
genetic testing
gptkbp:distinctFrom gptkb:neurofibromatosis_type_I
gptkbp:firstDescribed gptkb:Wishart
gptkbp:hasPatientSupportGroup gptkb:Children's_Tumor_Foundation
gptkb:Neurofibromatosis_Network
gptkbp:hasResearchFoundation gptkb:Neurofibromatosis_Type_2_Research_and_Education_Foundation
https://www.w3.org/2000/01/rdf-schema#label neurofibromatosis type II
gptkbp:ICD-10_code Q85.0
gptkbp:inheritance autosomal dominant
gptkbp:locatedOnChromosome gptkb:chromosome_22q12.2
gptkbp:mutationAssociatedWith gptkb:NF2_gene
gptkbp:namedAfter neurofibromatosis
gptkbp:OMIM 101000
gptkbp:onset adolescence
early adulthood
gptkbp:prevalence 1 in 25,000 to 1 in 40,000
gptkbp:proteinAffected merlin
gptkbp:riskFactor family history of NF2
gptkbp:symptom gptkb:cataracts
balance problems
hearing loss
tinnitus
bilateral vestibular schwannomas
ependymomas
meningiomas
gptkbp:treatment gptkb:bevacizumab
surgery
radiation therapy
gptkbp:bfsParent gptkb:Tumors_of_the_Nervus_Acusticus
gptkbp:bfsLayer 6