Digeorge Syndrome (DGS)

Digeorge Syndrome(来自ICD-11)
别称:
Chromosome 22q11.2 Deletion Syndrome
Third and Fourth Pharyngeal Pouch Syndrome
Hypoplasia of Thymus and Parathyroids
Dgs
22q11.2 Deletion Syndrome
Pharyngeal Pouch Syndrome
Digeorge's Syndrome
Shprintzen Syndrome
Di-George Syndrome
Digeorge Sequence
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Digeorge Syndrome, also known as chromosome 22q11.2 deletion syndrome, is related to chromosome 22q11.2 deletion syndrome, distal and opitz gbbb syndrome. An important gene associated with Digeorge Syndrome is TBX1 (T-Box Transcription Factor 1), and among its related pathways/superpathways is 22q11.2 copy number variation syndrome. The drugs Dopamine and Risperidone have been mentioned in the context of this disorder. Affiliated tissues include thymus and heart, and related phenotypes are intellectual disability and scoliosis
查看原文 参与反馈
相关ID:

基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
AD
Unknown
--
39
302
117

疾病表征

#
分类
表征
HPO概率
Orphanet概率
HPO来源
暂无相关数据

基因 & 突变

#
基因
作用分类
分值
突变数量
暂无相关数据

靶点药物

药物名称
CAS号
研发状态
临床阶段
暂无相关数据

疾病模型

类型
名称
MGI
相关基因
品系来源
文献数量
暂无相关数据

文献报道

标题
PMID
期刊
年代
IF
暂无数据
Wechat
Comparison
Al agent
Tutorials
Back to top