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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
Ritter's Disease (SSSS)
Alias:
Staphylococcal Scalded Skin Syndrome
Pemphigus Neonatorum
Ritter Disease
Ssss - [staphylococcal Scalded Skin Syndrome]
Toxic Epidermal Necrolysis, Subcorneal Type
Dermatitis Exfoliativa Neonatorum
Generalized Exfoliative Disease
Scalded Skin Syndrome
Ssss
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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
里特氏病,又称葡萄球菌烫伤样皮肤综合征,与水疱性脓疱病和猩红热有关,症状包括皮肤发红、形成充满液体的水疱和发热。与里特氏病有关的重要基因是DSG1(Desmoglein 1),其相关通路/超级通路包括角化和细胞蛋白质的凋亡切割。相关组织包括皮肤和颞叶,相关表型为稳态/代谢和免疫系统。
Related ID:
MALACARDS:RTT001
MESH:D013206
ICD11:1554593739
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
全年龄段
--
16
177
--
RTT001
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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