Lhermitte-Duclos disease

GPTKB entity

Statements (29)
Predicate Object
gptkbp:instanceOf neurological disorder
rare disease
hamartomatous lesion
gptkbp:affects gptkb:cerebellum
gptkbp:alsoKnownAs gptkb:dysplastic_gangliocytoma_of_the_cerebellum
gptkbp:associatedWith gptkb:Cowden_syndrome
PTEN gene mutation
gptkbp:characterizedBy enlarged cerebellar folia
slowly growing mass in cerebellum
gptkbp:diagnosedBy MRI
histopathology
gptkbp:eponymOf gptkb:Duclos
gptkb:Lhermitte
gptkbp:firstDescribed gptkb:Jacques_Jean_Lhermitte
gptkb:P._Duclos
1920
gptkbp:hasOrphanetID ORPHA:310
https://www.w3.org/2000/01/rdf-schema#label Lhermitte-Duclos disease
gptkbp:ICD-10_code D33.4
gptkbp:OMIM 158350
gptkbp:symptom nausea
vomiting
hydrocephalus
headache
ataxia
gptkbp:treatment surgical resection
symptomatic management
gptkbp:bfsParent gptkb:HGNC:9873
gptkbp:bfsLayer 5