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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
Hidradenitis Suppurativa
Alias:
Acne Inversa
Suppurative Hidradenitis
Hidradenitides, Suppurative
Suppurative Hidradenitides
Hidradenitis, Suppurative
Acne Inversa, Familial
Inverse Acne
Apocrinitis
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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
毛囊炎,也被称为逆向痤疮,与炎症性肠病1和道林-德戈斯病有关,其症状包括疼痛的结节、皮疹和瘙痒。与毛囊炎相关的基因是NCSTN(Nicastrin),其相关通路/超通路包括传染性疾病和ERK信号通路。在该疾病的背景下,已经提到了三氯醋酸和麻醉剂。附属组织包括皮肤和心脏,相关表型是与MLN4924(一种NAE抑制剂)的合成致死和稳态/新陈代谢。
Related ID:
MALACARDS:HDR002
MESH:D017497
ICD11:1621794154
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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26
310
3
HDR002
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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