Angelman syndrome

E1030536

chromosomal disorder genetic disorder neurodevelopmental disorder rare disease

Angelman syndrome is a rare genetic neurodevelopmental disorder characterized by severe intellectual disability, speech impairment, movement and balance problems, and a typically happy, excitable demeanor.

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Statements (71)

Predicate	Object
instanceOf	chromosomal disorder ⓘ genetic disorder ⓘ neurodevelopmental disorder ⓘ rare disease ⓘ
associatedChromosomeRegion	15q11-q13 GENERATED ⓘ
associatedGene	UBE3A NERFINISHED ⓘ
behavioralFeature	fascination with water ⓘ frequent mouthing of objects ⓘ hypermotoric behavior ⓘ short attention span ⓘ
diagnosedBy	DNA methylation analysis of 15q11-q13 ⓘ UBE3A sequencing ⓘ clinical evaluation ⓘ molecular genetic testing ⓘ
facialFeature	deep-set eyes ⓘ prominent chin ⓘ wide mouth ⓘ widely spaced teeth ⓘ
firstDescribedInYear	1965 ⓘ
hasCause	abnormalities of chromosome 15q11-q13 ⓘ imprinting defects at 15q11-q13 ⓘ loss of function of the maternal UBE3A gene ⓘ maternal deletion of 15q11-q13 ⓘ paternal uniparental disomy of chromosome 15 ⓘ pathogenic variants in the UBE3A gene ⓘ
hasComplication	feeding difficulties ⓘ recurrent seizures ⓘ severe developmental disability ⓘ sleep problems ⓘ
hasPrognosis	normal life expectancy in many cases ⓘ
hasSynonym	AS ⓘ Happy puppet syndrome NERFINISHED ⓘ
hasTreatment	antiepileptic drugs for seizures ⓘ behavioral therapy ⓘ occupational therapy ⓘ physical therapy ⓘ speech and language therapy ⓘ symptomatic management ⓘ
inheritancePattern	autosomal dominant at the molecular level ⓘ imprinting-related ⓘ typically sporadic ⓘ
isListedIn	Genetics Home Reference NERFINISHED ⓘ NIH Genetic and Rare Diseases Information Center NERFINISHED ⓘ Orphanet NERFINISHED ⓘ
namedAfter	Harry Angelman NERFINISHED ⓘ
neurologicalFeature	abnormal EEG patterns ⓘ jerky movements ⓘ tremor ⓘ
OMIMID	105830 ⓘ
prevalence	approximately 1 in 10,000 to 1 in 20,000 people ⓘ
primaryFeature	absent or minimal speech ⓘ ataxia ⓘ developmental delay ⓘ epilepsy ⓘ feeding difficulties in infancy ⓘ frequent smiling and laughter ⓘ hand-flapping movements ⓘ happy excitable demeanor ⓘ hyperactivity ⓘ microcephaly ⓘ movement and balance problems ⓘ scoliosis ⓘ seizures ⓘ severe intellectual disability ⓘ severe speech impairment ⓘ sleep disturbances ⓘ strabismus ⓘ
researchFocus	antisense oligonucleotides to unsilence paternal UBE3A ⓘ gene therapy targeting UBE3A ⓘ
typicalOnset	early childhood ⓘ infancy ⓘ

Referenced by (1)

Full triples — surface form annotated when it differs from this entity's canonical label.

James Padraig Farrell → hasMedicalCondition → Angelman syndrome ⓘ