Statements (49)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
gptkb:Happy_puppet_syndrome
|
| gptkbp:category |
neurological disorder
rare disease |
| gptkbp:chromosomeAffected |
gptkb:chromosome_15
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
gptkb:Harry_Angelman
1965 |
| gptkbp:frequency |
rare disease
|
| https://www.w3.org/2000/01/rdf-schema#label |
Angelman syndrome
|
| 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 |
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
|