Dystonia 2, Torsion, Autosomal Recessive (DYT2)

Alias:
Dyt2
Dystonia Musculorum Deformans 2
Primary Dystonia, Dyt2 Type
Torsion Dystonia 2
Dystonia, Type 2, Torsion, Autosomal Recessive
Dystonia Musculorum Deformans Type 2
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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
肌张力障碍2型,扭转,常染色体隐性,也称为dyt2,与扭转肌张力障碍2型和肌张力障碍有关,症状包括斜颈和震颤。与肌张力障碍2型,扭转,常染色体隐性相关的基因是HPCA(海马钙蛋白)。相关组织包括乳腺,相关表型为扭转肌张力障碍和言语障碍。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
--
1
5
16

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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