Emery-Dreifuss Muscular Dystrophy (EDMD)

Alias:
Edmd
Muscular Dystrophy, Emery-Dreifuss
Emery-Dreifuss Syndrome
Benign Scapuloperoneal Muscular Dystrophy with Early Contractures
Emd - [emery-Dreifuss Muscular Dystrophy]
Muscular Dystrophy, Emery-Dreifuss Type
Dystrophy, Muscular, Emery-Dreifuss
Muscular Dystrophy Emery-Dreifuss
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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
Emery-Dreifuss Muscular Dystrophy, 也被称为EDMD,与Emery-Dreifuss Muscular Dystrophy 3、常染色体隐性遗传和X连锁Emery-Dreifuss Muscular Dystrophy有关。Emery-Dreifuss Muscular Dystrophy相关的重要基因是EMD(Emerin),其相关通路/超通路包括细胞周期、有丝分裂和姐妹染色单体的分离。在该疾病的背景下,提到的药物有麻醉药和局部麻醉药。附属组织包括心脏和骨骼肌,相关表型为关节僵硬和肌病。
Related ID:
MESH:D020389
ICD11:749295636

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X显
常显
常隐
X染色体
孩童期
1-9/1000000
37
334
143

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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