Sotos Syndrome (SOTOS)

Sotos Syndrome(来自ICD-11)
别称:
Cerebral Gigantism
Chromosome 5q35 Deletion Syndrome
Sotos
Sotos Syndrome 1, Formerly
Sotos Syndrome, Type 1
Sotos1, Formerly
Sotos Syndrome 1
Sotos' Syndrome
Sotos Sequence
Sotos1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Sotos Syndrome, also known as cerebral gigantism, is related to sotos syndrome 2 and sotos syndrome 3, and has symptoms including seizures An important gene associated with Sotos Syndrome is NSD1 (Nuclear Receptor Binding SET Domain Protein 1), and among its related pathways/superpathways are Pleural mesothelioma and Myometrial relaxation and contraction pathways. Affiliated tissues include bone and eye, and related phenotypes are coarse facial features and tall stature
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基础信息

遗传方式
发病时间
患病率/发病率
相关基因
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参考文献
MALACARDS
AR
AD
Antenatal
1-9/1000000
64
577
107

疾病表征

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基因 & 突变

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靶点药物

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疾病模型

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MGI
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