|
gptkbp:instanceOf
|
gptkb:genetic_disorder
|
|
gptkbp:alsoKnownAs
|
gptkb:Happy_puppet_syndrome
|
|
gptkbp:category
|
gptkb:neurological_disorder
gptkb:rare_disease
|
|
gptkbp:chromosomeAffected
|
gptkb:chromosome_15
|
|
gptkbp:diagnosedBy
|
genetic testing
|
|
gptkbp:firstDescribed
|
gptkb:Harry_Angelman
1965
|
|
gptkbp:frequency
|
gptkb:rare_disease
|
|
gptkbp:ICD-10_code
|
Q93.5
|
|
gptkbp:inheritance
|
usually not inherited
de novo mutation
|
|
gptkbp:MeSH_ID
|
gptkb:D020769
|
|
gptkbp:mutationAssociatedWith
|
gptkb:UBE3A_gene
|
|
gptkbp:notableFeature
|
hyperactivity
frequent smiling
absence of functional maternal UBE3A allele
fascination with water
feeding difficulties in infancy
hand-flapping movements
jerky movements
light hair and skin pigmentation (in some cases)
mild facial dysmorphism
|
|
gptkbp:OMIM
|
105830
|
|
gptkbp:onset
|
infancy
|
|
gptkbp:organization
|
gptkb:Angelman_Syndrome_Foundation
gptkb:Foundation_for_Angelman_Syndrome_Therapeutics
|
|
gptkbp:parent
|
neurogenetic disorder
|
|
gptkbp:prevalence
|
1 in 12,000 to 20,000
|
|
gptkbp:prognosis
|
normal life expectancy
|
|
gptkbp:relatedTo
|
gptkb:Prader-Willi_syndrome
|
|
gptkbp:researchInterest
|
gptkb:gene_therapy
antisense oligonucleotides
epigenetic therapies
|
|
gptkbp:symptom
|
sleep disturbances
seizures
ataxia
microcephaly
frequent laughter
happy demeanor
severe intellectual disability
speech impairment
|
|
gptkbp:treatment
|
supportive care
physical therapy
speech therapy
anti-seizure medication
|
|
gptkbp:bfsParent
|
gptkb:chromosome_15
|
|
gptkbp:bfsLayer
|
6
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Angelman syndrome
|