Prader-Willi Syndrome (PWS)

Prader-Willi Syndrome(来自ICD-11)
别称:
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
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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
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相关ID:
MESH:D011218
ICD11:393773440

基础信息

遗传方式
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参考文献
MALACARDS
AD
Unknown
1-9/100000
66
838
207

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