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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Overgrowth Syndrome
Alias:
Overgrowth
Congenital Malformation Syndromes Involving Early Overgrowth
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
过度生长综合症,也称为过度生长,与塔顿-布朗-拉曼综合症和贝克维斯-威登曼综合症有关。与过度生长综合症有关的重要基因是LOC100507346(未鉴定的LOC100507346),其相关通路/超级通路包括经验证的C-MYC转录抑制靶标。在该疾病的背景下提到了环丙沙星和甲硝唑。附属组织包括肝脏和小肠,相关表型是胚胎。
Related ID:
MALACARDS:OVR082
ICD11:2113355045
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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9
131
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OVR082
Medical Symptom
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Description
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Orphanet Frequency
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No data available
Gene & Mutation
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No data available
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Name
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Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
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No Data Found!
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