Schaaf-Yang Syndrome (SHFYNG)

Alias:
Prader-Willi-Like Syndrome
Magel2-Related Prader-Willi-Like Syndrome
Chitayat-Hall Syndrome
Magel2-Related Pwls
Shfyng
Pwls
Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Schaaf-Yang Syndrome, also known as prader-willi-like syndrome, is related to hypotonia and autism spectrum disorder, and has symptoms including constipation An important gene associated with Schaaf-Yang Syndrome is MAGEL2 (MAGE Family Member L2), and among its related pathways/superpathways are Prader-Willi and Angelman syndrome and p75(NTR)-mediated signaling. Affiliated tissues include pituitary and eye, and related phenotypes are intellectual disability and abnormal facial shape
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
12
103
34

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

Name
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
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