Moyamoya disease

GPTKB entity

Statements (50)
Predicate Object
gptkbp:instanceOf gptkb:disease
rare disease
gptkbp:affects adults
children
cerebral arteries
gptkbp:associatedWith RNF213
gptkbp:cause intracerebral hemorrhage
ischemic stroke
gptkbp:characterizedBy formation of abnormal vascular networks
progressive stenosis of intracranial arteries
gptkbp:complication epilepsy
cognitive impairment
learning disabilities
developmental delay
motor deficits
sensory deficits
gptkbp:diagnosedBy gptkb:MRA
MRI
cerebral angiography
gptkbp:eponymOf Takeuchi and Shimizu
gptkbp:firstDescribed gptkb:Japan
1969
gptkbp:hasOrphanetID ORPHA:448
https://www.w3.org/2000/01/rdf-schema#label Moyamoya disease
gptkbp:ICD-10_code I67.5
gptkbp:inheritance sporadic
autosomal dominant (rare familial cases)
gptkbp:MeSH_ID D020754
gptkbp:nameOrigin Japanese word for 'puff of smoke'
gptkbp:OMIM 607151
gptkbp:prevalence higher in East Asia
gptkbp:riskFactor gptkb:Down_syndrome
gptkb:neurofibromatosis_type_1
gptkb:Asian_ancestry
genetic predisposition
gptkbp:symptom gptkb:seizure
cognitive decline
stroke
headache
visual disturbance
weakness
involuntary movements
transient ischemic attack
speech disturbance
gptkbp:treatment medical management
antiplatelet therapy
revascularization surgery
gptkbp:bfsParent gptkb:TOKiMONSTA
gptkb:Tokimonsta
gptkbp:bfsLayer 7