Prader-Willi Syndrome (PWS)

Alias:
Prader-Labhart-Willi Syndrome
Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15
Prader-Willi Syndrome Due to Imprinting Mutation
Prader-Willi Syndrome Due to Translocation
Willi-Prader Syndrome
Pws
Prader Willi Syndrome
Upd(15)mat
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Prader-Willi Syndrome, also known as prader-labhart-willi syndrome, is related to schaaf-yang syndrome and angelman syndrome. An important gene associated with Prader-Willi Syndrome is MAGEL2 (MAGE Family Member L2), and among its related pathways/superpathways is Prader-Willi and Angelman syndrome. The drugs Liraglutide and Insulin have been mentioned in the context of this disorder. Affiliated tissues include pituitary and skin, and related phenotypes are hypotonia and global developmental delay
Related ID:
MESH:D011218
ICD11:393773440

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
1-9/100000
66
840
207

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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