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:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
<1/1000000
8
60
5

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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