Peeling Skin Syndrome (PSS)

Alias:
Familial Continuous Skin Peeling Syndrome
Keratosis Exfoliativa Congenita
Idiopathic Deciduous Skin
Peeling Skin Disease
Deciduous Skin
Pss
Skin, Peeling, Syndrome
Keratolysis Exfoliativa
Skin Peeling Syndrome
Exfoliation Syndrome
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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
剥脱性皮肤综合征,又称家族性持续性皮肤剥脱综合征,与剥脱性皮肤综合征2和剥脱性皮肤综合征1有关。与剥脱性皮肤综合征有关的重要基因是FLG2(角蛋白2),其相关通路/超级通路包括神经系统发育和角质化。在该疾病的背景下提到了肝素、牛和拉坦前列素。附属组织包括皮肤和眼睛,相关表型是皮肤。
Related ID:
MESH:C564818
ICD11:707540125

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
--
18
91
--

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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