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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
Cutis Laxa, Autosomal Dominant 2 (ADCL2)
Alias:
Adcl2
Autosomal Dominant Cutis Laxa 2
Cutis Laxa, Autosomal Dominant, Type 2
Cutis Laxa, Autosomal Dominant, 2
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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
松弛性皮肤,常染色体显性2型,也称为adcl2,与松弛性皮肤和常染色体隐性松弛性皮肤III型有关。与松弛性皮肤,常染色体显性2型有关的重要基因是FBLN5(纤维蛋白5),其相关通路/超级通路包括代谢和水溶性维生素和辅因子的代谢。附属组织包括皮肤,相关表型包括脊柱侧凸和二尖瓣反流。
Related ID:
MALACARDS:CTS031
OMIM:614434
MESH:D003483
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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8
44
1
CTS031
Medical Symptom
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Orphanet Frequency
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Gene & Mutation
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MGI
Related Gene
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