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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
Pityriasis Rubra Pilaris (PRP)
Alias:
Devergie's Disease
Prp
Prp - [pityriasis Rubra Pilaris]
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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
毛发红糠疹,又名德维格病,与家族性毛发红糠疹和银屑病有关 13。与毛发红糠疹相关的基因是CARD14(半胱氨酸蛋白酶招募域家族成员14),其相关通路/超级通路包括先天性免疫系统和免疫系统中的细胞因子信号转导。在该疾病的背景下提到了Alefacept和皮肤科药物。附属组织包括皮肤和甲状腺,相关表型为掌跖角化病和丘疹
Related ID:
MALACARDS:PTY003
OMIM:173200
MESH:D010916
ICD11:2048594962
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
全年龄段
1-9/1000000
17
144
25
PTY003
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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