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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
Peeling Skin Syndrome 4 (PSS4)
Alias:
Exfoliative Ichthyosis, Autosomal Recessive
Pss4
Arei
Ichthyosis, Exfoliative, Autosomal Recessive, Ichthyosis Bullosa of Siemens-Like
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-Like
Exfoliative Ichthyosis Autosomal Recessive Ibs-Like
Ichthyosis, Exfoliative, Autosomal Recessive
Ichthyosis Bullosa of Siemens-Like
Skin, Peeling, Syndrome, Type 4
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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
剥脱性皮炎4,又称剥脱性鱼鳞病,常染色体隐性遗传,与常染色体隐性角化过度鱼鳞病和前列腺癌有关。与剥脱性皮炎4有关的重要基因是CSTA(Cystatin A)。相关组织包括皮肤和前列腺,相关表型为指甲发育不良和表皮角化过度。
Related ID:
MALACARDS:PLN024
OMIM:607936
MESH:D007057
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
12
5
PLN024
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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