Angelman Syndrome (AS)
Alias:
As
Happy Puppet Syndrome
Happy Puppet Syndrome, Formerly
Puppetlike Syndrome
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
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
相关ID:
MESH:D017204
ICD11:1106558408
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Infant
1-9/100000
98
1244
241
Medical Symptom
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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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No data available
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No data available
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MGI
Related Gene
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References Literature
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No Data Found!
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Comparison
Al agent
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