Angelman Syndrome (AS)
Alias:
As
Happy Puppet Syndrome
Happy Puppet Syndrome, Formerly
Puppetlike Syndrome
Basic Information
Medical Symptom
Gene & Mutation
Drugs
Disease Model
References
Angelman Syndrome, also known as as, is related to prader-willi syndrome and angelman syndrome due to imprinting defect in 15q11-q13, and has symptoms including constipation, seizures and tremor, limb. An important gene associated with Angelman Syndrome is UBE3A (Ubiquitin Protein Ligase E3A), and among its related pathways/superpathways are GABA B receptor activation and Prader-Willi and Angelman syndrome. The drugs Dopamine and Levodopa have been mentioned in the context of this disorder. Affiliated tissues include tongue and eye, and related phenotypes are seizure and eeg abnormality
Basic Information
Inheritance
Age Of Onset
Prevalence
Related Gene
Related Models
Reference
MALACARDS
AD
Infant
1-9/100000
6
116
241
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Count
No data available
Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References
Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Back to top