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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
Miliaria
Alias:
Sweat Retention Syndrome
Eccrine Miliaria
Sweat Rash
Heat Rash
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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
汗疹,又称汗液潴留综合征,与红斑汗疹和假性醛固酮症1型有关,症状包括皮疹。与汗疹相关的重要基因是SCNN1G(钠通道上皮1亚单位伽马),其相关通路/超级通路包括无机离子/阴离子和氨基酸/寡肽的运输以及背角神经元的神经痛信号传导。附属组织包括皮肤和肺,相关表型包括肾/尿系统和稳态/代谢。
Related ID:
MALACARDS:MLR009
MESH:D008883
ICD11:204420062
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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12
82
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MLR009
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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