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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
Acanthosis Nigricans
Alias:
Keratosis Nigricans
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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
黑棘皮病,又称黑棘皮病,与松果体增生、胰岛素抵抗型糖尿病、躯体异常和部分脂肪营养不良有关,症状包括瘙痒。与黑棘皮病有关的重要基因是PRMT7(精氨酸甲基转移酶7),其相关通路/超级通路包括信号转导和TGF-β通路。在该疾病的背景下,已提到的药物包括二甲双胍和亮丙瑞林。附属组织包括皮肤和卵巢,相关表型为黑棘皮病和shRNA丰度增加(Z-score>2)。
Related ID:
MALACARDS:ACN002
OMIM:100600
MESH:D000052
ICD11:71488193
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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21
312
9
ACN002
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
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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