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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
非罕见病
Pompholyx
Alias:
Vesicular Eczema of Hands and/or Feet
Dyshidrosis
Vesicular Hand Eczema
Eczema, Dyshidrotic
Dyshydrotic Eczema
Cheiropompholyx
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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
Pompholyx,又称手足多形性湿疹,与 pemphigoid 和 anhidrosis 有关,症状包括瘙痒和脓疱疹。与 Pompholyx 关联的重要基因是 AQP10(Aquaporin 10),其相关通路/超级通路包括毛囊发育:器官发生 - 第 2 部分和 EDA 信号在毛囊发育中的作用。在该疾病的背景下提到了药物 Alitretinoin 和 Isotretinoin。附属组织包括皮肤和下丘脑核,相关表型是色素沉着和颅面。
Related ID:
MALACARDS:PMP010
MESH:D011146
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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11
121
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PMP010
Medical Symptom
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Categorization
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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No data available
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Name
MGI
Related Gene
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Publications
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