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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
Arthrogryposis, Distal, Type 4 (DA4)
Alias:
Distal Arthrogryposis Type 4
Arthrogryposis-Severe Scoliosis Syndrome
Distal Arthrogryposis Type Iid
Daiid
Da4
Arthrogryposis with Severe Scoliosis
Arthrogryposis, Distal, Type Iid
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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
Arthrogryposis, Distal, Type 4,也被称为远端关节挛缩症4型,与阿尔茨海默病、家族性1型光过敏性皮炎有关,症状包括斜颈。与Arthrogryposis, Distal, Type 4相关的基因是SNORA4(小核糖核蛋白H/ACA盒4),其相关通路/超级通路包括热能生成和G蛋白信号传导_Rap2B调节通路。相关表型包括脊柱侧弯和眼球震颤。
Related ID:
MALACARDS:ART131
OMIM:609128
MESH:C563791
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
<1/1000000
8
60
5
ART131
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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